Autosomal recessive malformative disease.
In 1992, van den Ende et al. first reported an autosomal recessive multiple congenital anomaly syndrome characterized by blepharophimosis, arachnodactyly, and congenital contractures in a Brazilian girl born to consanguineous parents.
Synopsis
malar hypoplasia
prominent ears
blepharophimosis
downslanting eyebrows
narrow nose
hypoplastic alae nasi
flat nasal bridge
everted lower lip
high arched palate
cleft palate
dental crowding
laryngeal anomalies (17937442)
- large, globular cuneiform cartilages
- shortened aryepiglottic folds
- tightly coiled epiglottis
- laryngomalacia
slender ribs
hooked clavicles
hypoplastic glenoid fossa
pectus excavatum
joint contractures (improves with time)
small anterior cranial fossa
maxillary hypoplasia
elbow contractures
knee contractures
dislocated radial head
ulnar bowing
slender long bones
femoral bowing
distal shortening of ulna
slender hands
arachnodactyly
camptodactyly
hypoplastic distal digital creases
long thumbs
long, slender metacarpals
long, slender phalanges
slender feet
long halluces
clubfeet
hallux valgus
camptodactyly
downslanting eyebrows
See also
References
Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA. van den Ende-Gupta syndrome: Laryngeal abnormalities in two siblings. Am J Med Genet A. 2007 Oct 15; PMID: 17937442