Congenital malformations - Edocr

311
Achondrogenesis Autosomal Severe Macrocephaly Lethal Usually low Most infants
recessive or micromelia Hydrops/cystic Could be as stillborn or
sporadic Respiratory hygroma high as 25% die shortly
mutation failure Generalized after birth
Mutation in
hypomineralization
COL2A1 Fractures +/–
gene
Decreased
type II
collagen
Camptomelic Autosomal Short limbs, Club feet, short Usually Very low for Survivors have
dysplasia dominant tibial bowing square hands lethal normal profound
Mutation in Respiratory Hypoplastic scapulae parents, growth and
SOX9 insufficiency Cleft palate 50% if one developmental
gene on Heart defect parent is rare delay including
chromosome Hydronephrosis survivor with mild apneic spells
17q24 Sex reversal (46XY manifestation
males present as
of the disease
phenotypic female)
Asphyxiating Autosomal Narrow bell Postaxial polydactyly Usually 25% Progressive renal
thoracic recessive shaped thorax of hand and feet+ lethal and hepatic
dystrophy Respiratory (30%) dysfunction in
(Jeune’s failure Chronic nephritis survivors who
syndrome) Short limbs Occasional situs may also
(rhizomelic inversus have retinal
micromelia)
degeneration
Short rib- Autosomal Short limb Polydactyly of Invariably 25% Very rare
polydactyly recessive Respiratory hand and feet lethal Most infants
syndrome failure Cardiac defects, die shortly
e.g., TGV, DORV
after birth
Polycystic kidneys
Ambiguous genitalia
Cleft palate and CNS
anomalies +
(Continued)