Conditions / Syndrome
Stromme syndrome
info · Syndrome · ICD-10: Q87.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene o
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
Signs and symptoms
- Jejunal atresia
- Myopathy
- Short columella
- Agenesis of corpus callosum
- Microcornea
- Retinal vascular tortuosity
- Cataract
- Hypertelorism
- Iris coloboma
- Hydrocephalus
Also known as: CILD31; apple peel syndrome with microcephaly and ocular anomalies; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31