Intrauterine growth retardation-mivrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

Definisjon

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth restriction, microcephaly, short stature, rhizomelic shortening and facial dysmorphism (including prominent forehead, downslanted palpebral fissures, bulbous nasal tip, large or prominent ears and notably severe micrognathia). Developmental delay is commonly reported, intellectual disability may also be present. Additional clinical features may include genitourinary malformations in males, transient liver dysfunction, glycosylation abnormalities, giant cell hepatitis, hepatoblastoma, and cataracts. Severity of the disease varies from mild to very severe which may lead to intrauterine death or stillbirth in some cases.