Opóźnienie rozwoju ruchowego z powodu ekspresji ojcowskiego wadliwego genu 14q32.2

Kod Orpha: 254516Kod OMIM: 616222

Definition

Temple syndrome is 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).

Dane
Classification

Zespół wad wrodzonych

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

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