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

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
  • https://omim.org/entry/251255
  • http://linkedlifedata.com/resource/umls/id/C0796063
  • http://www.orpha.net/ORDO/Orphanet_313795
has exact synonym
  • Jawad syndrome
has related synonym
  • microcephaly with mental retardation and digital anomalies
  • microcephaly with intellectual disability and digital anomalies
  • Kelly syndrome
  • JWDS
  • JAWAD syndrome
id
  • MONDO:0009622