Conditions / Eye
syndromic microphthalmia 9
info · Eye
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromoso
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
Signs and symptoms
- Profound intellectual disability
- Anophthalmia
- Blepharophimosis
- Wide nasal bridge
- Low-set ears
- Micrognathia
- Pulmonary hypoplasia
- Inguinal hernia
- Renal hypoplasia
- Short stature
Also known as: Matthew-Wood syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; pulmonary agenesis microphthalmi and diaphragmatic defect