Details of Disease

General Information of Disease (ID: DIS6USMG)

• Disease Name: Jawad syndrome
• Synonyms: JAWAD syndrome; microcephaly with mental retardation and digital anomalies; microcephaly with intellectual disability and digital anomalies; JWDS; Kelly syndrome; Jawad 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 caf au lait-like spots on the skin of hands and feet are also associated.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS6USMG: Jawad syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009622
  MESH ID: C567101
  UMLS CUI: C0796063
  OMIM ID: 251255
  MedGen ID: 810673
  Orphanet ID: 313795
  SNOMED CT ID: 771470001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBBP8	OTRHJ3GI	Definitive	Autosomal recessive	[1]

References

• [1] RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3.