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GTR Home > Conditions/Phenotypes > X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1

Synonyms
Arylsulfatase E deficiency; Chondrodysplasia punctata 1, X-linked recessive; Chondrodysplasia punctata, X-linked recessive; Chondrodysplasia punctata, brachytelephalangic
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Chondrodysplasia Punctata 1, X-Linked
X-linked chondrodysplasia punctata 1 (CDPX1) 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 involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nancy E Braverman
Michael B Bober
Nicola Brunetti-Pierri
view full author information

Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARSE, ASE, CDPX, CDPX1, CDPXR, ARSL
    Summary: arylsulfatase L

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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