<unk>  is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. This condition is also known as arylsulfatase E deficiency, CDPX1, and<unk>  1. The syndrome rarely affects females, but they can be carriers of the<unk>  allele. Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. This condition is not<unk>  to a specific ethnicity. The mutation that leads to a deficiency in arylsulfatase E. (ARSE) occurs in the coding region of the gene. Absence of stippling, deposits of calcium, of bones and cartilage, shown on<unk> -ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 (CDPX1) gene without mutation. Stippling of the bones and cartilage is rarely seen after childhood. Phalangeal abnormalities are important clinical features to look for once the stippling is no longer visible. Other, more severe, clinical features include respiratory abnormalities, hearing loss, cervical spine abnormalities, delayed cognitive development, ophthalmologic abnormalities, cardiac abnormalities, gastroesophageal reflux, and feeding difficulties. CDPX1 actually has a spectrum of severity; different mutations within the CDPX1 gene have different effects on the catalytic activity of the ARSE protein. The mutations vary between missense, nonsense, insertions, and deletions.
X-linked recessive chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
Congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Platyspondylic lethal skeletal dysplasia, Torrance type
Fukuyama congenital muscular dystrophy
LMNA-related congenital muscular dystrophy
Congenital distal spinal muscular atrophy