CPE-related Prader-Willi-like syndrome
ORPHA:633028· ICD-10 Q87.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy