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Синдром Прадера-Віллі, повязаний з CPE

ORPHA:633028· ICD-10 Q87.8· CPE-related Prader-Willi-like syndrome

Визначення(English summary)

A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.

Поширеність
<1 / 1 000 000
Вік початку
Childhood, Infancy