GTR Home > Conditions/Phenotypes > Chondrodysplasia punctata 1, X-linked recessive

Summary

X-linked chondrodysplasia punctata 1 (CDPX1), a congenital disorder of bone and cartilage development, is caused by a deficiency of the Golgi enzyme arylsulfatase E (ARSE). It is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory compromise, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability. [from GeneReviews]

Associated genes

Clinical features

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  • Short stature
  • Short nasal septum
  • Microcephaly
  • Cataract
  • Hypogonadism
  • Hearing impairment
  • Anosmia
  • Abnormality of the vertebral column
  • Global developmental delay
  • Short nose
  • Depressed nasal bridge
  • Ichthyosis
  • Short distal phalanx of finger
  • Epiphyseal stippling
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