Conditions / Syndrome
rhizomelic chondrodysplasia punctata type 2
info · Syndrome · ICD-10: Q77.3
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
Signs and symptoms
- Rhizomelia
- Disproportionate short stature
- Inguinal hernia
- Short stature
- Hip contracture
- Hypotonia
- Zonular cataract
- Severe intellectual disability
- Cataract
- Decreased circulating plasmalogen concentration
Also known as: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; DHAPAT deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; GNPAT deficiency; Glyceronephosphate O-Acyltransferase Deficiency