Conditions / Genetic
split hand-foot malformation 1 with sensorineural hearing loss
info · Genetic · ICD-10: Q87.2
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
Signs and symptoms
- Sensorineural hearing impairment
- Split foot
- Split hand
- Severe short stature
- Scoliosis
- Tapered finger
- Frontal bossing
Also known as: SHFM1D; congenital deafness with split hands and feet