X-linked dominant chondrodysplasia punctata

X-linked dominant chondrodysplasia punctata is characterized by a rare skeletal dysplasia with short stature, scoliosis and asymmetric shortening of the limbs.

Associated symptoms include dull and rough hair, alopecia, cataracts, calcifications of epiphyses, skeletal abnormalities, severe kyphoscoliosis, stunted growth and facial dysmorphism. Characteristic features such as a saddle nose, hypoplastic nasal septum and midface hypoplasia aslo occur.

The cause of the syndrome is mutations in the Xp11.23-p11.22 region of the EBP gene encoding the emopamil-binding protein.

The expression of the disease varies greatly between families as well as within families, suggesting that the type and location of the mutation has no impact on the clinical phenotype.

Due to heredity, predominantly female patients are affected, whilst the chromosome mutation is fatal to male embryos. The prognosis of women affected varies from neonatal death to mild symptoms occurring in adulthood.