Conditions / Syndrome
Cornelia de Lange syndrome 3
info · Syndrome
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
Signs and symptoms
- Short stature
- Proximal placement of thumb
- Intellectual disability
- Feeding difficulties
- Global developmental delay
- 2-3 toe syndactyly
- Short 4th metacarpal
- Patent foramen ovale
- Widely spaced teeth
- Curly eyelashes
Also known as: CDLS3; Cornelia De Lange syndrome 3 with or without midline brain defects