Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. [ Orphanet:313795 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
microcephaly with mental retardation and digital anomalies [ https://omim.org/entry/251255 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C2673414

definition

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

exactMatch

http://identifiers.org/omim/251255

http://linkedlifedata.com/resource/umls/id/C0796063

http://www.orpha.net/ORDO/Orphanet_313795

has exact synonym

Jawad syndrome

has related synonym

Kelly syndrome

microcephaly with mental retardation and digital anomalies

microcephaly with intellectual disability and digital anomalies

JAWAD syndrome

JWDS

id

MONDO:0009622