Conditions / Syndrome
Sweeney-Cox syndrome
info · Syndrome
A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWI
A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
Signs and symptoms
- Hypertelorism
- Upper eyelid coloboma
- Global developmental delay
- Bilateral cryptorchidism
- Broad nasal tip
- Prominent metopic ridge
- Hearing impairment
- Anal atresia
- Narrow mouth
- 2-5 finger cutaneous syndactyly