Temtamy preaxial brachydactyly syndrome

Orpha code: 363417OMIM code: 605282

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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