Conditions / Syndrome
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
info · Syndrome
A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.
Signs and symptoms
- Long philtrum
- Brachydactyly
- Short stature
- Broad columella
- Prominent forehead
- Thin upper lip vermilion
- Broad nasal tip
- Deeply set eye
- Broad thumb
- Wide nasal base