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.

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

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

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

5.	Gellis S et al. (1979) Cranioectodermal dysplasia.

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

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

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

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

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

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

12.	OMIM.ORG article Omim 218330

Update: June 23, 2025

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