Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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 [^]
14.

Wikipedia article

Wikipedia EN (Sensenbrenner_syndrome) [^]
Update: April 29, 2019