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GTR Home > Conditions/Phenotypes > Chondrodysplasia punctata 2 X-linked dominant

Chondrodysplasia punctata 2 X-linked dominant

Synonyms
CONRADI-HUNERMANN-HAPPLE SYNDROME; Chondrodysplasia punctata, X-linked dominant; Conrad Hunermann Happle syndrome; Happle syndrome; Hunermann-Conradi Syndrome
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Chondrodysplasia Punctata 2, X-Linked
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.
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:
Smitha Kumble
Ravi Savarirayan
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Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDPX2, CHO2, CPX, CPXD, MEND, EBP
    Summary: EBP cholestenol delta-isomerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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