Temtamy preaxial brachydactyly syndrome

Orpha code: 363417OMIM code: 605282

Definition

Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

Disease data
Classification

Malformation syndrome

ORPHA code
363417
OMIM code
605282
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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