Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cranioectodermal dysplasia 1

Cranioectodermal dysplasia 1 is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. The disease is caused by mutations of the IFT122 gene.

Systematic

Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
IFT122
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4

References:

1.

Zaffanello M et al. (2006) Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.

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2.

Fry AE et al. (2009) Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

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3.

Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

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4.

Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

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5.

Gellis S et al. (1979) Cranioectodermal dysplasia.

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6.

Levin LS et al. (1977) A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.

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7.

Lang GD et al. (1991) Cranioectodermal dysplasia in sibs.

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8.

None (1989) Cranioectodermal dysplasia (Sensenbrenner's syndrome).

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9.

Eke T et al. (1996) A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.

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10.

Amar MJ et al. (1997) Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

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11.

Tamai S et al. (2002) Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.

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12.

OMIM.ORG article

Omim 218330 [^]
Update: April 29, 2019