Temple syndrome

Orpha code: 254516OMIM code: 616222

Definicja

A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
254516
Kod OMIM
616222
Kod ICD10
Q87.8,
Kod ICD11
-

No additional description.

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