Temtamy preaxial brachydactyly syndrome

Genetics

• associated with defects in CHSY1

Clinical manifestations

• multiple congenital anomalies
• mental retardation
• sensorineural deafness
• talon cusps of upper central incisors
• growth retardation
• bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly & hyperphalangism

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/605282