Microcephalic primordial dwarfism-insulin resistance syndrome

Orpha code: 436182OMIM code: 616541

Definicja

A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
436182
Kod OMIM
616541
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl