Conditions / Syndrome
Sandestig-Stefanova syndrome
info · Syndrome
A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis
A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.
Signs and symptoms
- Epicanthus
- Narrow forehead
- Trigonocephaly
- Angulated antihelix
- Developmental cataract
- Ventriculomegaly
- Clinodactyly
- Wide intermamillary distance
- Retrognathia
- Highly arched eyebrow