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43 Cards in this Set

  • Front
  • Back

albinism, white forelock of hair, ocular albinisim, different colored eyes (heterochromia), and/or deafness




autosomal dominant

Waardenburg Syndrome
early cranial suture closure + bilateral syndactyly (fused digits)



autosomal dominant

Apert Syndrome





webbed neck, low-set ears, short stature, hypertelorism, pulmonic stenosis, HOCM, pectus excavatum




autosomal dominant



Noonan Syndrome
short, macrocephaly, mild hypotonia, short arms/legs, relatively normal torso, genu varum deformity (bow-legged), normal IQ



*risk of death from compression of the


cervicomedullary junction




autosomal dominant in 15-20% (rest are new mutations)

Achondroplasia
hamartoma GI polyps (can lead to obstruction or intussusception so should be removed), increased lifetime risk of cancer, hyperpigmented macules on the lips or oral mucosa,

positive family history




autosomal dominant

Peutz-Jeghers Syndrome (aka hereditary intestinal polyposis)

premalignant polyps throughout the intestines, also may have supernumerary teeth and tumors in other parts of the body (especially benign bone tumors = osteomas)



autosomal dominant

Gardner Syndrome

infantile spasms or epilepsy with missing corpus callosum, mental retardation



x-linked dominant

Aicardi Syndrome

males have renal disease (starts as hematuria an progresses to ESRD, bilateral sensorineural hearing loss, eye/vision problems




x-linked dominant





Alport Syndrome

rounded face, almond-shaped eyes with up slanting palpebral fissures, flat nasal bridge, macroglossia, single transverse palmar crease ("Simian crease"), hypotonia, wide space b/w 1st and 2nd toes


Brushfield spots (speckled whitish rings located in the iris)

Trisomy 21, Downs Syndrome

What problems are children with trisomy 21 at risk for?
AV canal defects,obstructive sleep apnea w/ R heart failure, atlantoaxial instabilityduodenal atresia, leukemia,Hirschprung's disease,mental retardation
most common form of Trisomy 21?

other possibilities?




*risk of future pregnancies for each

non-disjunction of chromosome 21

(mother's age-related risk + 1%) - most common




translocation in which the parent is carrying a 21 attached to 21 (100% risk)




any other translocations (<15% risk)

Rocker bottom feet, clenched fists,

hypoplastic nails,horseshoe kidneys,


micrognathia, prominent occiput,


pectus excavatum

Edward's syndrome (trisomy 18), most die in utero or by 1 year
Cleft lip/palate,

holoprosencephaly/midline defects,


punched out scalp lesions (aplasia cutis),


cystic kidneys, omphalocele




*can also have rocker bottom feet

Patau syndrome (trisomy 13), clinically severe, most die by 6 months
Webbed neck/cystichygroma,puffy hands/feet (pedal edema),coarctation,short stature,horseshoe kidney, no periods/infertile

(hypergonadotropic-hypogonadism)





*cubitus valgus deformity of the elbow and hyperconvex fingernails

Turner syndrome (45, X). This is the one of the only chromosomal abnormalities not related to maternal age.
Tall stature, small testes, gynecomastia, learning/behavioral problems/socially awkward
Klinefelter (47, XXY)
-tall/thin, scoliosis, pectus deformities, long fingers

-superior subluxation of the lens


-mitral valve prolapse, aortic dissection


-high arched palate/speech disorder


(no cognitive defects)

Marfan's Syndrome
joint hypermobility, loose skin, easy bruising, poor wound healing, "cigarette paper" scars, possible MVP and aortic dissection
Ehlers Danlos Syndrome
dwarfism, clinodactlyly, small chin and triangular face, hypospadias , hemihypertrophy

Russell-Silver Syndrome

poor urine production in utero (oligohydramnios), pulmonary hypoplasia, club feet, flattened blade-like hands, glove-like loose-fitting skin, yellow nodules

Potters Syndrome

VATER/VACTERL
Vertebral abnormality
Anal atresia/imperforate anus
Cardiac (VSD)
TE fisulta
Esophageal atresia
Renal anomalies/Radial hypoplasia
Limb anomalies

weak abdominal muscles, cryptoorchidism, urinary tract anomalies (vesicoureteral reflux, posterior urethral valves, renal dysplasia), often results in hydronephrosis, oligohydramnios, and pulmonary hypoplasia, poor prognosis

Prune Belly Syndrome

microdeletion of chromosome 22

cardiac defects/conotruncal (truncus arteriosus, interrupted aortic arch, tetralogy of fallot),

absent of hypoplastic thymus (T cell deficit), hypocalcemia




some with veloardiofacial syndrome (cleft uvula or palate + cardiac anomalies + craniofacial features)

DiGeorge
What study looks for microdeletion syndromes?
FISH
"cocktail party" personality, love music!,

elfin face, low and flat nasal bridge, upturned nose, smooth philtrum, wide-spaced teeth, cardiac problems (SUPRAvalvular aortic stenosis, peripheral pulmonic stenosis, hypercalcemia)

Williams Syndrome
absent or hypoplastic radius and thumb, triple-jointed thumb, ASD or VSD
Holt Oram Syndrome
high-pitched shrill cry, hypertelorism, microcephaly, developmental delay, high palate and possibly a VSD
Cri-du-chat Syndrome (deletion of short arm of chromosome 5, aka 5p- or 5p deletion)

early suture closure (craniosynostosis) with prominent forehead, proptosis, cleft lip/palate




*NO syndactyly!

Crouzon Syndrome (aka Craniofacial dysostosis)

Trinucleotide repeat expansion (size of repeat correlates with severity and age of onset)



mental retardation, social awkwardness, long face with prominent jaw, large ears, large testicles


*most common inherited form of MR (most common cause is Downs)

Fragile X Syndrome
What diseases can result from 15q11-13 chromosome deletion?
Prader Willi syndrome-from the dad's side
Angelman syndrome-from the mom's side
happy, "angelic", laugh frequently, severe MR, "puppet gait" - ataxic, unstable, jerky



absence or dysfunction of 15q11-13 from MATERNAL copy (diagnosed with FISH)

Angelman Syndrome
hypotonia (floppy baby with poor feeding/suck), mild MR, almond-shaped eyes, small hands, big appetite, obesity, small testicles/penis in boys



absence or dysfunction of 15q11-13 from PATERNAL copy (diagnosed with FISH)

Prader-Willi Syndrome

retinitis pigmentosa, obesity, polydactyly, hypogonadism, endocrine problems (nephrogenic DI, DM)

Laurence Moon Biedl Syndrome

Macroglossia, macrosomia (large body), midline abd wall defects (omphalocele, umbilical hernia), hemihypertrophy, increased risk for malignancies such as Wilms Tumor, nephromegaly (large palpable kidneys)
Beckwith-Wiedemann Syndrome

AV fistulae causing overgrowth and hemihypertophy, port wine stains, congestive heart failure

Klippel-Trenaunay Syndrome

glossoptosis (tongue stick out due to small chin), micrognathia, cleft palate, upper airway obstruction




*many conditions are associated with this disorder, most notably Stickler syndrome and chromosome 22q11 deletion syndrome.

Pierre-Robin sequence

CHARGE syndrome
C-coloboma
H-heart defects
A-choanal Atresia
R-retardation of growth
G-GU anomalies (hypospadias, undescended testes)
E-ear anomalies or deafness

regression of developmental milestones and deceleration of growth, microcephaly after about 1 year, breath-holding spells, seizures




X-linked but affects girls more

Rett Syndrome

craniofacial deformities, such as absent cheekbones, downward-slanting eyes, micrognathia, cleft palate, conductive hearing loss, and malformed or absent ears

Treacher Collins Syndrome

Which are each of these associated with?


1. clinodactyly


2. 2-3 syndactyly


3. small 5th fingernail


4. short 4th and 5th fingers


5. triphalangeal thumbs


6. hypoplastic distal phalanges

1. Downs, Fetal alcohol syndrome, Russel Silver Syndrome, Pierre-Robin Syndrome

2. Smith-Lemli-Opitz


3. Fetal Alcohol Syndrome


4. Turners


5. Holt Oram Syndrome and Diamond Blackfan Anemia


6. Warfarin exposure in utero

unilateral absence or hypoplasia of the medial (sternal) portion of the pectoralis major muscle




Associated ipsilateral anomalies include hypoplasia or absence of the breast/nipple and shortened upper extremity associated with syndactyly

Poland sequence

large for gestational age and continue to grow rapidly during the first 4–5 years of life then growth rate returns to normal


large feet/hands, generalized hypotonia, moderate-to-severe delays in acquisition of motor skills, mild MR, hemihypertrophy may be present and cause increased risk of Wilm's, neuroblastoma

Sotos syndrome


(cerebral gigantism)

At least two of the following:




6 or more café-au-lait macules (>5mm prepuberty, >15mm postpuberty)


2 or more neurofibromas of any type or 1 plexiform neurofibroma


Auxillary frecklingIris hamartomas (Lisch nodules)


A distinctive osseous lesion, such as sphenoid dysplasia or thinning (bowing) of the long bone cortex


A 1st degree relative with NF1

Neurofibromatosis type 1

bilateral acoustic neuromas, meningioma, glioma, schwannoma, and/or juvenile posterior subcapsular lens opacity (juvenile cataract).

Neurofibromatosis type 2