Jawad syndrome
Findings
No curated finding names Jawad syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with 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.
Definition from the Mondo Disease Ontology (MONDO:0009622), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnonychiaHPOHP:0001798
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Primary microcephalyHPOHP:0011451
- 7 of 7 reported patients · Congenital onset
- Sloping foreheadHPOHP:0000340
- 7 of 7 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- Postaxial polydactylyHPOHP:0100259
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RBBP8HGNC:9891
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021