Conditions / Syndrome
temtamy preaxial brachydactyly syndrome
info · Syndrome
A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CH
A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
Signs and symptoms
- Hitchhiker thumb
- Microdontia
- Clinodactyly
- Syndactyly
- Talon cusp
- Global developmental delay
- Highly arched eyebrow
- Bilateral sensorineural hearing impairment
- Deep philtrum
- Brachydactyly
Also known as: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE