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GTR Home > Conditions/Phenotypes > Camptomelic dysplasia

Camptomelic dysplasia

Synonyms
CMPD1/SRA1; Campomelic Dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Campomelic Dysplasia
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sheila Unger
Gerd Scherer
Andrea Superti-Furga
view full author information

Available tests

89 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (89 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1, CMPD1, SRA1, SRXX2, SRXY10, SOX9
    Summary: SRY-box transcription factor 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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