Cranioectodermal Dysplasia 4

Alternative Names

  • CED4
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

614378

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4p14

Description

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614378.1Saudi ArabiaFemaleYes Rod-cone dystrophyNM_025132.4:c.2777G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
614378.2Saudi ArabiaFemaleYesYes Renal insufficiency; Oral cleft; Abnorma...NM_025132.4:c.2585T>CHomozygousAutosomal, RecessiveMaddirevula et al. 2018
614379.3Saudi ArabiaMaleYes Abnormal facial shape; Narrow palpebral ...NM_025132.4:c.1434C>GHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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