Conditions / Syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
info · Syndrome
A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
Signs and symptoms
- Atrichia
- Ichthyosis follicularis
- Photophobia
- Absent eyelashes
- Olivopontocerebellar atrophy
- Opacification of the corneal stroma
- Short stature
- Seizure
- Unilateral chest hypoplasia
- Intellectual disability
Also known as: IFAP syndrome 1; IFAP syndrome 1 with or without BRESHECK syndrome; ichthyosis follicularis-atrichia-photophobia syndrome 1