Conditions / Syndrome
SADDAN
info · Syndrome
A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
Signs and symptoms
- Severe short stature
- Intellectual disability
- Hypoplasia of the corpus callosum
- Global developmental delay
- Breech presentation
- Hydrocephalus
- Acanthosis nigricans
- Tibial bowing
- Femoral bowing
- Lumbar hyperlordosis
Medications that may treat it
Also known as: SADDAN dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans