Conditions / Syndrome
lateral meningocele syndrome
info · Syndrome
A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
Signs and symptoms
- Hypotonia
- Joint hypermobility
- Global developmental delay
- Low-set ears
- Hypernasal speech
- Malar flattening
- Ptosis
- Coarse hair
- Micrognathia
- Downslanted palpebral fissures
Also known as: Lehman syndrome