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Cranioectodermal dysplasia

Cranioectodermal dysplasia is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. Different subforms are caused by different genes.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
IFT122
Cranioectodermal dysplasia 2
WDR35
Cranioectodermal dysplasia 3
IFT43
Cranioectodermal dysplasia 4
WDR19
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

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.

Lin AE et al. (2013) Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

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13.

Orphanet article

Orphanet ID 1515 external link
14.

Wikipedia article

Wikipedia EN (Sensenbrenner_syndrome) external link
Update: Aug. 14, 2020
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