Conditions / Syndrome
Adams-Oliver syndrome 3
info ยท Syndrome
An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15.
Signs and symptoms
- Microcephaly
- Mild intellectual disability
- Aplasia cutis congenita
- Short distal phalanx of finger
- Short 5th toe
- Short palm
- Short palpebral fissure
- 2-3 toe syndactyly
- Delayed gross motor development
- Short metatarsal