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220 Cards in this Set
- Front
- Back
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der(13;14) chance of trisomy?
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1% mat, 1% pat
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inheritance of der(13;14)?
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55%
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most common human reciprocal translocation
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46,XX t(11;22)(q23;q11.2)
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risk of having abnormal liveborn fetus with 46,XX t(11;22)(q23;q11.2)?
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6%
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risk to fetus if 46,XY,inv(2)(p11.2q13)?
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common and innuocuous
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GAG deletion causes what condition?
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Dystonia (DYT1 gene)
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What 2 situations can cause SMA?
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SMN1 deletions (x2), SMN1 converted to SMN2 (x2)
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Neurological development occurs during what type of gestation
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the whole time
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internal organ development generally occur during what time period in gestation?
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4-6
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digits and facial features generally develop during what time period in gestation?
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first 8 weeks
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feeling that can cause withdrawal and denial
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shame
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unwanted and unconsented touching
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battery
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issues of contract obligations, negligence and battery, considered a tort action
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malpractice
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discontinuing service when it is still needed is considered ___ legally speaking
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abandonment or negligence
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claims of injury to patient because provider didn't use or misused certain info or technique
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negligence
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requirement for what legal concept requires provider-patient relationship and duty owed by defendent to plaintiff, defendent breached duty by not doing something they should have or doing something they shouldn't have, breach of duty caused direct harm, actual injury resulted which can be compensated for by ruling of court
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tort
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pattern of unfounded statements of reassurance or making of false promises
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fraudalence
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if you see a patient in a social setting, what should you do?
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don't acknowledge them unless they acknowledge you
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What is the key for being an effective supervisor?
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guiding students to answer instead of giving them answer
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supervision skills: learning process, professional, personalization and conceptualization
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discimination model
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describe Bloom's revised taxonomy for how to supervise a student in beginning, intermediate and advanced stages
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beginning: know, comprehend
intermediate: apply, analyze advanced: synthesize, evaluate |
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supervisor acts as a facilitator to determine effective plan of action
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consultant role
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supervisor acts as instructor
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teacher role
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supervisor acts to promote self-awareness and growth in patient
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counselor role
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supervisor critiques, gives feedback, main focus is accountability, goal setting, feedback to student
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evaluator role
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what type of tissue is not used to examine chromosomes?
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RBC's
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A sequence is an event leading to ___ and ___
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deformations and disruptions
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calculation for heritability with DZ and MZ concordance?
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(MZ-DZ)x2
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What is elevated in pregnancies with Noonan, congenital diaphragmatic hernia, and skeletal dysplasias?
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NT
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Which type of screening detects TS 13 more: FT or ST? Why?
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first b/c elevated NT usually
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Sequential screen has (high/low) FPR and DR
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high for both
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What kind of gene is ATM?
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caretaker
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which BRCA gene has higher risk for ovarian cancer?
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BRCA1
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which BRCA gene has higher risk for male breast cancer?
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BRCA2
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cancers seen in ATM?
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ALL, melanoma, sarcoma, breast, gastric, ovarian, medulloblastoma
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risk of cancer in Bloom Syndrome?
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50%
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risk of cancer in Bloom Syndrome?
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10%
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types of cancers seen in Bloom Syndrome
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sarcomas, melanoma, thyroid, stomach, breast
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condition of fructose metabolism where removal of dietary fructose is not helpful but they should avoid fasting and eat uncooked cornstarch and galactose to avoid hypoglycemia and ketosis?
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fructose-1,6-BP
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condition with galactosemia and cataracts but otherwise healthy?
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galactokinse deficiency
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condition causing liver disease, deafness, FTT, increased Gal-1-P but normal GALT levels, detected by newborn screen
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UDP-galactose 4-epimerase deficiency
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3 conditions with highly elevated CK?
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DMD, GSD V, GSD IX
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3 conditions with mildly elevated CK's?
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CPT II, LCHAD, VLCAD
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general category of conditions causing heart, muscle, liver, and brain issues causing Reye Syndrome-like episodes and "near-miss" SIDS, abnormal newborn screen, elevated CK, abnormal plasma acylcarnitines, require supplemental carnitine and MCT oil in some cases
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FAO conditions
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cancer seen more in tyrosinemia?
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hepatocellular carcinoma
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chance of recurrence in McCune-Albright?
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<1%, sporadic
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What is seen in TS18, VATER, and Fanconia Anemia, but NOT in TAR?
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absent thumb
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which gene can lead to X-linked MR and agenesis of CC?
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ARX gene
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Lod scores can be the same for 2 markers if ____
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homozygous at 2 markers
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>50% of cyclic vomiting conditions have ___ inheritance
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maternal
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when a cell has >95% T8993G or C mtDNA mutations, then have ___ condition or __ condition if 75-90%
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Leigh, NARP
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___ and ___ are the 2 most common symptoms in MELAS
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diabetes, deafness
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Alagille is the result of a ____ in the JAGGED1 gene?
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translocation
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name for karyotype XYY
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Jacobs syndrome
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bifid uvula seen in what 2 conditions?
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pallister-hall and loeys-dietz
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horseshoe kidney is seen in what 2 conditions?
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Turner Syndrome (80%) and TS 18 (20%)
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most common type of mutation in CF
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deletion
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infants with mucopolysaccharidoses symptoms at birth most likely to have what condition?
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I-cell disease
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A condition most frequent in the AJ population which has been known to have imprinting
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Niemann-Pick
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X-linked condition mostly seen in females
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Conradi-Hunerman
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first FAO disorder described
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CPTII
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what is HELLP syndrome and what category of condition is it?
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Hemolysis Elevated Liver enzyme levels and Low Platelet count, LCHAD
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which progressive neurologic condition (AJ) occurs 3-6 months and consists of strong startle response?
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Tay-Sachs
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what age of onset does Krabbe begin?
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1yo
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what age of onset does metachromatic leukodystrophy begin?
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2 years old
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if trisomy is found in a spontaneous abortion and a karyotype is performed in a subsequent spontaneous abortion, probability of again finding a trisomy result is about___%?
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40%
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A child is born with a partial del and partial dup for the same chromosome. A likely parental chromosome abnormality predisposing to this occurrence would be ___?
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pericentric inversions
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two-hit hypothesis of nondisjunction
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first hit is failed or misplaced
meiotic exchanges (occurring in utero) and the second hit reflects the misbehavior of such bivalents on the compromised spindles of older oocytes |
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which cardiac condition is associated with risk of SCD due to thromboembolism?
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Dilated CM
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Torsades des Pointes is associated with what condition?
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Romano-Ward syndrome
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ARVD affect what type of proteins?
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desmosome
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LT risk of a male with a BRCA2 mutation getting breast cancer
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5-10%
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hair loss, ECG changes, DM, and cataracts are all seen in what condition?
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myotonic dystrophy
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oculocutaneous albinism, bleeding diathesis, hypopigmentation of skin and hair, nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia, increased crossing of optic nerves and can develop skin cancer/pulmonary fibrosis and colitis
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Hermasnky pudlak
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gene for Hermansky Pudlak
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HPS1
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episodic abdominal pain, cramping and diarrhea, occasional hematochezia, may involve any part of intestinal tract, transmural ulceration and granulomas of GI tract, fistulas, patchy involvement of terminal ileum and ascending colon, extraintestinal manifestations include inflammation of joints/eyes/skin
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Crohn disease
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gene associated with crohn disease
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NOD2/CARD15
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gene increasing risk of AML (familial)
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RUNX1/CBFA2
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cutaneous fibrofolliculomas, trichodiscomas/angiofibromas, perifolliculr fibromas, achrochordons, pulmonary cysts and Hx of pneumothorax, renal tumors, lung and renal cysts mostly bilateral and multifocal and slow-growing, oncocytoma renal tumors most common, chromophobe histologic cell tumors
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Birt-Hogg-Dube
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gene for BHD?
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FLCN
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myxomas of heart and skin, hyperpigmentation of skin (lentiginosis), endocrine overactivity, embolic strokes, heart failure, fever, joint pain, SOB, diastolic rumble and tumor polyp, endocrine tumors and cushing syndrome
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carney complex/NAME/LAMB syndrome
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rare bone tumor at base of skull, in vertebrae or tailbone, symptomatic in second decade of life or later, grow slowly with ambiguous symptoms
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chordoma
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gene associated with Carney Complex/LAMB/NAME?
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PRKAR1A
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nail dystrophy, lacey reticular skin hyperpigmentation or generalized hyperpigmentation mucosal leukoplakia, BM failure frequent, short stature, premature loss of hair and teeth, hyperhidrosis of palms and soles, telangiectasia, hair tufts with hyperkeratotic plugs, keratinized basal cell papillomas, pulmonary fibrosis, esophageal and urinary stricture, liver dz, GI abnormalities, increased predisposition to SCC of head and neck and AML
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dyskeratosis congenita
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inheritance of dyskeratosis congenita
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>50% XLR, 5% AD, 10% AR
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multifocal hyperparathyroidism, parathyroid hyperplasioa, parathyroid adenomas, cystic parathyroid adenomas, elevated parathyroid hormone levels with renal stones/hypercalcemia/osteoporsosis/pancreatitis, 15% malignancy of parathyroid, males>females at about 32yo, maxillary tumors, hamartomas, multiple cysts or polycystic renal disease, renal cortical adenomas, renal failure, benign uterine disease
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familial hyperparathyroidism w/ or w/out multiple ossifying jaw fibromas and familial cystic parathyroid adenomatosis
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gene associated with familial hyperparathyroidism w/ or w/out multiple ossifying jaw fibromas and familial cystic parathyroid adenomatosis
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HRPT2
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increased risk of subclinical immune dysfunction, B-cell tumors (CLL and NHL), and waldenstrom macroglobulinemia
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Familial Waldenstrom macroglobulinemia
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risk of thyroid cancer (papillary, multifocal, bilateral, aggressive), adenoma, multinodular goiter, 40's onset
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familail non-medullary thyroid cancer
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multiple GISTs (10-30% malignant in stomach, small intestine, and esophagus/colon/rectum), cutaneous hyperpigmentation with multiple nevi and/or urticaria pigmentosum, upper GI pain and bleeding, hyperpigmentation of digits/elbows/knees/perineum/face that fade with age (especially carriers), GI autonomic nerve tumors with hyperplasia and severe diverticulosis
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GIST and multiple gastrointestinal autonomic nerve tumors
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gene for GIST and multiple gastrointestinal autonomic nerve tumors
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C-KIT and PDFRA
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gastric cancer (poorly diff adeno), signet ring carcinoma, 67% chance for men by 80yo, 83% for women and women have 39% risk of lobular breast cancer, average age of onset 38yo
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hereditary diffuse gastric cancer
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gene for hereditary diffuse gastric cancer
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CDH1
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cutaneous leiomyomata on trunk/extremities/face increasing in size and number with age, uterine leiomyomata (fibroids), single renal tumor causing back pain, hematuria
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hereditary leiomyomatosis and FCC
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gene causing hereditary leiomyomatosis?
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FH
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increased risk of congenital central hypoventilation syndrome, neuroblastoma, ganglioneuroblastoma, ganglioneuroma, increased urinary catecholamines, bilateral adrenal or multifocal primary tumor
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hereditary neuroblastoma
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gene for hereditary neuroblastoma
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PHOX2B
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3.5-10% pancreatic cancer risk, DM and exocrine insufficiency before pancreatic cancer, BRCA2 mutations more common in pancreatic cancer patients
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hereditary pancreatic cancer
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gene for hereditary pancreatic cancer
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PALLD
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bilateral and multifocal papillary RCC (multiple, bilat), 100% penetrance by 80yo
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hereditary papillary RCC
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gene for hereditary papillary RCC
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MET
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increased risk of Hodgkin lymphoma, HL and increased risk of CLL, NHL, cancers of breast, ovary, kidney, cervix, brain
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Hodgkin Lymphoma (Familial)
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inheritance of familial hodgkin lymphoma?
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AR, anticipation seen
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hamartomatous polyps in GI tract (stomach, small intestine, colon, recctum, may cause bleeding and anemia if untreated, most of these type of polyps are benign but malignant in 9-50%
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Juvenile Polyposis
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genes associated with JPS?
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BMPR1A and SMAD4
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JPS seen with what other condition sometimes in SMAD4 mutations?
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HHT
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embryonal rhabdomyosarcoma, Wilms tumor, leukemias, severe IUGR, microcephaly, anomalies of eyes, dysmorphism, DD, seizures, congenital heart anomaly, GU anomaly, Dandy-Walker complex, quadriplegia, sarcomas and hematological abnormalities
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mosaic variegated aneuploidy
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inheritance of mosaic variegated aneuploidy
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AR
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gene associated with mosaic variegated aneuploidy
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BUB1B
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growth deficiency, microcephaly, sloping forehead, prominent midface, retrognathia, recurrent sinopulmonary infections,d ecline in cognition after 1yr with mild ID, POF frequent, hyper and hypopigmented irregular spots, immunodeficiency, chromosomal inversions and translocations, increased risk of chromosome breaks in nonhomologous chroms and exposure to radiation, 35% develop malignancy (B-cell lymphomas, hematopoetic malignancy, glioma, rhabdomyosarcoma, medulloblastoma, prostate, breast cancer, Gi lymphoma, gastric and colorectal cancer, onset <25yo
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Nijmegen breakage syndrome/ataxia telangiectasia variant/Berlin Breakage syndrome
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gene associated with Nijmegen breakage syndrome/ataxia telangiectasia variant/Berlin Breakage syndrome
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NBS1
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inheritance of Nijmegen breakage syndrome/ataxia telangiectasia variant/Berlin Breakage syndrome
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AR
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rhabdoid tumors of brain, kidney at young age, renal and extrarenal malignant tumors, choroid plexus carcinoma, medulloblastoma, meningioma, myoepithelioma, familial schwannomatosis, onset prenatally or <2yo
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rhabdoid predisposition syndrome
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gene of rhabdoid predisposition syndrome?
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SNF5
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sun-sensitive rash (100%), 3-6mo erythema, swelling, blistering on cheeks/face then to buttocks/extremities (sparing chest/back/abdomen) leading to poikiloderma (telangiectasis, reticulated pigmentation, punctate dermal atrophy), short stature, skeletal dysplasia, radial ray defects, sparse scalp hair, sparse brows or lashes, cataracts, osteosarcoma, skin cancer
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Rothmund-Thomson syndrome
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inheritance of Rothmund-Thomson syndrome
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AR
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gene involved in Rothmund-Thomson syndrome
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RECQL4
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undescended testes, inguinal hernias, hypospadias, reduced fertility, semen abnormalities bilateral testicular germ cell tumors, highest risk in scandinavian countries
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familial testicular germ cell tumors
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gene for familial testicular germ cell tumors
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TGCT1
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inheritance of familial testicular germ cell tumors
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XLR?, AD, AR
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torsade de pointes, syncope during exercise and high emotions, sometimes ventricullar fibrillation, aborted cardiac arrest, sudden death, 1-2 syncopal episodes in pre-teens to 20's
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Romano-Ward Syndrome
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inheritance of Romano-Ward
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AD
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lentigines, EKG conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, SNHL, HCM
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LEOPARD
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gene associated with LEOPARD
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PTPN11
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inheritance of LEOPARD?
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AD
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low birth weight, craniofacial malformations, eye abnormalities, hand/foor defects like aplastic thumb, genital malformations in males, DD, some cases Rb
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13q- syndrome
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leukodystrophy with hypotonia, poor reflexes, tremor, CNS changes on MRI, short stature, craniofacial dysmorphism(carp-shaped mouth, deep-set eyes, microcephaly, prominent ears, midface hypoplasia), limb anomalies (clubfoot, short thumbs), CL/P, GI anomalies, heart anomalies, immune deficiencies, eye movement disorders, HL, genital hypoplasia, IQ<70, autism, behavioral problems, seizures
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18q- syndrome/deGrouchy Syndrome
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congenital adhesions of eyelids, ectodermal dysplasia, orofacial clefting, hair is coarse, sparse or absent nails, teeth small and malformed, hypohidrosis, chronic inflammatory dermatitis of scalp
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ankyloblepharon-ectodermal defects- CL/P syndrome (AEC), Hay-Wells syndrome
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gene for ankyloblepharon-ectodermal defects- CL/P syndrome (AEC), Hay-Wells syndrome
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p63
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Marfanoid appearance, long slender fingers and toes, crumpled ears, major joint contracture, muscle hypoplasia, kyphosis/scoliosis, severe/lethal, aortic dilation (ASD, VSD, IAA), duodenal atresia or esophageal, malrotation
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Beals syndrome/Congenital contractural arachnodactyly
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gene for Beals syndrome/Congenital contractural arachnodactyly
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FBN2
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progressive mineralization of skin, eyes, blood vessels, GI tract, papules on neck/underarms/joints, changes in retina, anioid streaks called Bruch's membrane, bleeding, scarring of retina, arteriosclerosis, claudication (cramping/pain during exercise
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pseudoxanthoma elasticum
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inheritance of pseudoxanthoma elasticum
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AR or pseudodominance
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gene for pseudoxanthoma elasticum
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ABCC6
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nystagmus, decreased iris pigment, foveal hypoplasia, decreased visual acuity, strabismus, white hair and skin, translucnet iris
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oculocutaneous albinism
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genes for oculocutaneous albinism
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TYR and OCA1 and 2
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inheritance of oculocutaneous albinism
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AR
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congenital nephropathy, kidney failure by 3yo, Wilms tumor (2yo), gonadal dysgenesis, ambiguous genitalia, high risk for malignancy in gonadal tissues, death d/t renal failure
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Denys Drash
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undermasculinized external genitalia, streak gonads, small uterus and fallopian tubes, focal segmental glomerulosclerosis (kidney dz), gonadoblastoma (almost all, usually bilateral)
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Frasier
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cause of transient neonatal DM
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UPD6
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acute onset adrenal insufficiency, cryptorchidism, delayed puberty, carrier females may have adrenal insufficiency or hypogonadism
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X-linked adrenal hypoplasia congenita
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gene involved in X-linked adrenal hypoplasia congenita
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NROB1 on X
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what % of carrier females of hemophilia A have symptoms?
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10%
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most common hereditary bleeding disorder (1% of pop)
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von Willebrand disease
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MR (mild), immune deficiency leading to recurrent infections, hypertelorism, low-set eats, epicanthal folds, macroglossia, flat nasal bridge, chromosome instability (esp 1,9,16, and 2)
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ICF syndrome
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recurrent pneumonia, sinusitis <5yrs, sepsis, meningitis, cellulitis, paucity of lymphoid tissue, XLR
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X-linked aggamaglobulinnemia
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gene associated with X-linked aggamaglobulinnemia
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BTK
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inheritance of ICF syndrome
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AR
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appear healthy until 2-3 months when loss of milestones, hypotonia, seizures, FTT occur, short/sparse/coarse/twisted/lightly pigmented hair, temp instability, hypoglycemia, jowley face, death by 3yo, lax skin/joints, bladder diverticular, inguinal herniaas, vascular tortuosity, normal intellect
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Menkes
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distinctive wedge-shaped calcs at sites of attachment of trapezius muscle and sternocleidomastoid muscle to occipital bone, lax skin/joints, bladder diverticular, inguinal herniaas, vascular tortuosity, normal intellect
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occipital horn syndrome
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gene issue in Menkes and occipital horn syndrome
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ATP7A
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benign fructose issue, fructose excreted in urine instead of being metabolized
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essential fructosuria
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most common disorder of metabolism affecting muscles
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CPTII deficiency
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affects visceral P/A/C nervous system, more common in women, abdominal pain sign of acute attack, peirpheral neuropathy and may have permanent quadriplegia, psychiatric issues, death may occur from respiratory paralysis
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HMBS (hydroxmethylbilane synthase deficiency)
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most severe skeletal MPS
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Morquio (MPS IV)
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MPS with corneal clouding and hydrops fetalis
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Sly (VII)
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MPS with normal intellect and physical symptoms similar to MPS I
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Maroteaux-Lamy (MPS VI)
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MPS with soft tissue masses
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Natowicz (MPS IX)
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slowly progressive, fatal in early childhood, postnatal growth limited and ceases at 2yo, contractures, thickened skin, coarse facial features, hypertrophic gingival, orthopedic abnormalities, thickening and insufficiency of mitral valve , mucosal thickening, stiffening of thoracic cage leading to death
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mucolipidosis type II
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carrier rate of mucolipidosis type II in French-canadian population
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1/39
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gene in mucolipidosis type II
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GNPTAB
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odor in tyrosinemia
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cabbage
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scaling of skin, esp. on neck/trunk/lower extremities, 4mm scales and can be dark brown or gray, cryptorchidism sometimes, female carriers may have difficulty during childbirth
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X-linked icthyosis/STS deficiency
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What conditions can be seen at the same time as STS deficiency?
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KAL1 and SHOX gene deletions
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syndromes seen with spina bifida
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Meckel-Gruber, Roberts, Jarcho-Levin, triploidy, Trisomy 13/18
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lack of fetal movement in utero, lack of muscular development and growth in newborn with contracture and deformity at most joints, dating from intrauterine life, 2/3 able to walk without braces and attend school, normal IQ
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amyoplasia congenita/arthrogyposis multiplex congenita
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buildup of lipofuscins, vision problems, seizures, personality and behavior changes, slow learning, clumsiness, stumbling, mental impairment, microcephaly,
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Batten syndrome
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inheritance of Batten Syndrome
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AR
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stroke-like episodes before age 60, cognitive disturbances, behavioral abnormalities, migraine with aura
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CADASIL (cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy
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gene in CADASIL
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NOTCH3
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abnormal development of optic disk, pituitary deficiency, agenesis of septum pallucidum (separates ventricles of brain), blindness, hypotonia, hormonal problems, jaundice at birth, ID or normal IQ, short
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septo-optic dysplasia
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proximal limb weakness, difficulty running and walking, calf hypertrophy, onset 3-15yo or as old as 17-23yo depending on type, most types AR
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limb-girdle dystrophy
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distinctive craniofacies (macroglossia, palatal abnormalities, etc), supernumerary nipples, diastasis recti, CHD, kidney defects (nephromegaly, etc), pyloric ring, Meckel's diverticulum, intestinal malrotation, hepatosplenomegaly, winged scapula, large broad thumbs, hip dislocation, brachdactyly and syndactyly, postaxial polydactyly, 10% tumors (Wilms tumor, hepatoblastoma, adrenal neuroblastoma, neuroblastoma)
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simpson-golabi behmel
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inheritance of simpson-golabi behmel
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XLR
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gene for simpson-golabi behmel
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GCP3
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macrocephaly, dysmorphic facial features, accelerated skeletal maturation, limb anomalies, skeletal anomalies, DD, predisposition for tumors, cardiovascular anomalies, hypotonia, hypertonia, DD, tumors, large hands with broad thumbs and prominent finger pads, captodactyly, clinodactyly, nails thin, 2:1 males to females
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Weaver Syndrome
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slowly progressive cerebellar ataxia, f/b oculomotor apraxia, severe primary motor peripheral axonal motor neuropathy, progresses to external opthalmoplegia, more in Portugal and Japan
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ataxia with oculomotor apraxia
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type of condition ataxia with oculomotor apraxia is?
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premature aging
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genes involved in ataxia with oculomotor apraxia, wener syndrome, and cockayne syndrome
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APTX, SETX
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inheritance of ataxia with oculomotor apraxia, werner syndrome, and cockayne syndrome
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AR
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severe FTT in first 2 yrs, progressive deterioration of vision/hearing/CNS/PNS, kyphosis, scoliosis, joint contracture, spasticity, death in 1st to second decade
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Cockayne syndrome
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gene with cockayne syndrome?
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ERCC6 and 8
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grow normally until puberty then stop growing and have short stature, graying and loss of hair, hoarse voice, thin/hardened skin, bird-like facial features, thin ams and legs, thick trunk d/t abnormal fat disposition, get cataracts, skin ulcers, old-age issues and die in 40's to 50's
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Werner syndrome
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population where Werner seen more
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Japan
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age effect of what parent causes Hutchinson-Gilford progeria?
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paternal
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multiple joint contractures in whole body, lack of fetal movement causes tissue to develop around joints, more severe when early in pregnancy, die in first year of life
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arthrogyposis multiplex congenita
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inheritance of arthrogyposis multiplex congenita
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AR, AD, XLR, multifactorial or mitochondrial
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delayed closure of cranial sutures, hypoplastic or aplastic clavicles, multiple dental abnormalities, large open anterior fontanel, midface hypoplasia, brachydactyly, HL, normal intellect
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cleidocranial dysplasia
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gene associated with cleidocranial dysplasia
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RUNX2
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what condition might you have with Cockayne syndrome?
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XP
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abnormal joining (fusion) of 2+ cervical vertebrae leading to short neck, limited ROM in neck, low hairline at back of head, Sprengel deformity, hearing issues, NTD, cleft palate, heart abnoramlity, arthritis/scoliosis
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Klippel-Fiel
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genes causing Klippel-Fiel
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GFD6 and 3
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ambiguous genitalia, enlarged cystic ovaries, poor masculinization in males, maternal virilization during pregnancy with affected fetus, craniosynostoss, choanal stenosis, stenotic external auditory canals, hydrocephalus, neonatal fractures, bowing of long bones, joint contracture, renal malformations
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Antley-Bixler
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gene with Antley Bixler
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POR
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issue of what causes Antley Bixler?
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cholesterol/steroid
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inheritance of Antley-Bixler
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AR
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severe to profound MR in males, short, soft fleshy hands with tapering fingers with small terminal phalanges, males <3% of height, microcephaly, stimulus induced drop episodes, kyphoscoliosis, prominent forehead, widely spaced and downward-slanting eyes, short nose with wide tip, wide mouth and full lips, normal to profound MR in females
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Coffin-Lowry
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inheritance of Coffin-Lowry
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XLD
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gene for Coffin Lowry
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RPS6KA3
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coarse face, CL/CP, diaphragmatic defect, agenesis of CC, optic and olfactory tract hypoplasia, GU malformation, majority stillborn or die in noenatal period
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Fryns syndrome
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underdevelopment or absence of pectoralis muscles on one side of the body and webbing of fingers (cutaneous syndactyly) of hand on same side (usually on R side of body and more in male than females); can have abnorml GI tract, brachydactyly, dextrocardia, diaphragmatic hernia, absent humerus, biliary tract anomalies, maternal DM, oligodactyly, radius absent, ulna absent, upper limb asymmetry, rhizomelic micromelia, abnormal rib, simian crrase on affected side, hypoplastic absent nipples, scapula anomaly, kidney anomaly, enecephalocele, microcephaly, ureter anomalies, vertebral anomaly, rarely NHL and leukemia
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Poland Syndrome/sequence
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cause of Poland sequence?
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interruption of embryonic blood supply to arteries under collarbone at 46th day of development
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congenital bilateral facial paralysis with inability to abduct eyes
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Mobius syndrome
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IUGR, MR, heart/kidney/genital defects, limb malformations (more in upp than lower) CL/P, premaxillary portrusion, micrognathia, microbrachycephaly, malar hypoplasia, exopthalmos, cornearl clouding, beaked nose, ear malformations, sparse silvery hair, mildly affected can live into adulthood
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Roberts Syndrome
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inheritance of Roberts
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AR
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gene in Roberts
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ESCO2
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cause of roberts syndrome
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abnormalities with premature centromere separation and separation of heterochromatic regions in metaphase
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short stature, mesomelic or acromesomelic limb shortening, hemivertabrae with fusion of thoracic vertebrae, bachydactyly, micropenis, reduced clitoral size, hypoplasia of labia majora, renal issues, nail hypoplasia, dystrophy, fasial issues (macrocephaly, broad prominent forehead, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gum hypertrophy, ankyloglossia, micrognathia, seen more in OMani and Turk consanguinous couples
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Robinow syndrome/sequence
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inheritance of Robinow?
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AR and AD (AD more mild and more rare)
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VACTERL stands for?
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vertebral anomalies, anal atresia, cardiac, TE fistula, renal anomalies, limb anomalies
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port-wine stain and varicosities of extremity associated with hypertrophy of affected limb's bony and soft tissue
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Klippel-Trenaunay-Weber syndrome
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inheritance of Klippel-Trenaunay-Weber syndrome?
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most sporadic, but some AD pattern and lethal in homozygotes (hets unaffected)
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gene associated with BPES
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FOXL2
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BPES stands for?
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blepharophimosis, ptosis, epicanthus inversus
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dense congenital cataracts in all, infantile glaucoma in 50%, impaired vision, hypotonia, absent DTR's, motor delay, MR, proximal renal tubular dysfunction, slowly progressive renal disease until ESRD after 10-20 yrs
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Lowe Syndrome
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gene for Lowe Syndrome
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OCRL
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inheritance of Lowe Syndrome
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XL, 33% de novo
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inheritance of chondrodyplasia punctata
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XL, AR
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gene for chondrodysplasia punctata
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ARSE
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conditions seen with chondrodysplasia punctata sometimes?
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KAL and STS
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