Rhizomelic chondrodysplasia punctata- type 3
Overview
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
Symptoms
Slow growth Mental retardation Spasticity Small head Low nasal bridge
Causes
Incorrect formula preparation Abnormal feeding habits Behavioural problems affecting feeding Neglect Child abuse Feeding difficulty (see Poor feeding) Celiac disease Cystic fibrosis