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Chondrodysplasia Punctata 1, X-Linked.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Apr 22 [updated 2011 Nov 03].



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 abnormal cognitive development.


In approximately 25% of individuals with features of CDPX1, routine karyotype analysis reveals deletions or rearrangements of the short arm of the X chromosome (Xp) that include ARSE. Chromosomal microarray (CMA) can be used to evaluate for smaller interstitial deletion syndromes. Sequence analysis of ARSE identifies mutations in up to 60% to 75% of males who meet clinical diagnostic criteria.


Treatment of manifestations: Respiratory difficulty can require frequent monitoring, nasal stents, and oxygen. Severe maxillary hypoplasia or maxillary retrognathia may require reconstructive surgery in older individuals. Instability of the cervical spine may require a cervical collar or spinal fusion. Surveillance: Routine monitoring of hearing, growth, development, and cervical spine instability.


CDPX1 is inherited in an X-linked manner. If the mother of a proband has a disease-causing mutation, the chance of transmitting it in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and thus far have not been affected. Males with CDPX1 pass the disease-causing mutation to all of their daughters and none of their sons. Carrier testing for at-risk relatives and prenatal testing for at-risk pregnancies are possible if the disease-causing mutation has been identified in the family.

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