Microcephalic primordial dwarfism-insulin resistance syndrome

Orpha code: 436182OMIM code: 616541

Definition

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
Classification

Malformation syndrome

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

No additional description.

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