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Cranioectodermal dysplasia 4

Summary

Excerpted from the GeneReview: Cranioectodermal Dysplasia
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
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:
Weizhen Tan
Angela Lin
Kim Keppler-Noreuil
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Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATD5, CED4, CFAP66, DYF-2, FAP66, IFT144, NPHP13, ORF26, Oseg6, PWDMP, SPGF72, SRTD5, WDR19
    Summary: WD repeat domain 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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