Developmental Genetics Diseases

Front 1

Diastrophic Dysplasia

Back 1

Defective Transporter: skeletal dysplasia caused by mutations in the gene for a sulfate transporter

Front 2

Noonan Syndrom

Back 2

Mutation in PTPN11, encoding for protein phosphatase SHP-2 leads to pulmonic stenosis, developmental delay

Front 3

Congenital Deafness

Back 3

GJB2, gap junction protein connexin 26

Front 4

X-linked hydrocephalus

Back 4

Mutation in the gene LICAM, cell surface receptor

Front 5

Kal1 Syndrome

Back 5

protein involved in migration of neurons and olfactory nerves to hypothalamus, obesity, hypogonadism, anosmia

Front 6

Smith-Lemli-Opitz

Back 6

7-dehydrocholesterol reductase, last step in cholesterol syn, multiple congenital anomalies, including craniofacial anomalies, syndactyly, genital hypoplasia CNS malform

Front 7

Waardenburg syndrome

Back 7

genetic heterogeneity, auto dominant inheritance, deafness, pigmentary disorders, craniofacial anomalies

Front 8

Waardenburg syndrome Type 1 & 3

Back 8

Mutation in Pax3

Front 9

Waardenburg syndrome Type 2

Back 9

Mutation in MTIF

Front 10

Waardenburg syndrome Type 4

Back 10

Mutation in END3 coding for endotheiln-3 or ENDRB coding for its receptor

Front 11

Cruzon syndrome

Back 11

Mutation in FGFR2, craniosyntosis

Front 12

Apert syndrome

Back 12

Mutation in FGFR2, craniosyntosis, syndactyly of fingers and toes, congenital heart disease

Front 13

Pfeiffer syndrome

Back 13

Mutation in FGFR1, craniosyntosis, prominent thumbs and big toes

Front 14

Muenke syndrome

Back 14

Mutation in FGFR3, unilateral coronal syntosis

Front 15

Kartagener's Syndrome (Immotile cilia syndrome)

Back 15

creates asymetry of left right axis, associated with sinus inversus in 50% of patients

Front 16

Klippel-Feil

Back 16

fusion of cervical vertebrae, example of human segmentation disorder

Front 17

Neurofibromatosis I

Back 17

Defective NF1 gene coding for neurofibromin, a GTPase-activating protein. GTPase inactivates ras inhibiting the cell cycle. Café-au-lait spots, auxillary & inguenial freckling, neurofibromas

Front 18

Marfan Syndrome

Back 18

Disorder of TGF-beta causing a defect in fibrillin-1

Front 19

Thanatophoric dysplasia

Back 19

Severe mutation in FGFR3, causes stillbirths or early death due to lung hypoplasia

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Hypochondroplasia

Back 20

Mild mutations of FGFR3, usually taller

Front 21

Achondroplasia

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Mutation of FGFR3, usually 1138G>A in transmembrane domain, 80% new paternal mutation

Front 22

Aplasia cutis

Back 22

Absence of skin due to oligohydraminos

Front 23

Treacher-Collins syndrome

Back 23

Mutation in TCOF1 coding for Treacle. Autosomal dominant. Craniofacial anomalies, dysplastic ears, and deafness

Front 24

Oligohydramnios (Potter Sequence)

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Renal anomaly -> oligohydramnios -> restriction of movement and limb contracture -> facial deformation -> extreme leads to compression and underdevelopment of lungs

Front 25

22q11 deletion syndrome

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Can cause DiGeorge or velocardiofacial syndromes

Front 26

Alagille syndrome

Back 26

Disorder of Notch signaling pathway. Jagged1 mutation. Butterfly vertebrae, peripheral pulmonic stenosis, hepatobiliary hypoplasia

Front 27

CADASIL

Back 27

Disorder of notch signaling pathway. Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopoathy

Front 28

Osler-Rendu-Weber syndrome

Back 28

Disorder of TGF-beta pathway. Hereditary hemorrhagic telangiectasia.