Conditions / Syndrome
macrocephaly-autism syndrome
info · Syndrome
A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTE
A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
Signs and symptoms
- Postnatal macrocephaly
- Autism
- Penile freckling
- Prominent forehead
- Delayed speech and language development
- Global developmental delay
- Biparietal narrowing
- Long philtrum
- Short nose
- Broad forehead
Also known as: macrocephaly-intellectual disability-autism syndrome