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