Cranioectodermal dysplasia 3 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 IFT43 gene.
Cranioectodermal dysplasia | ||||
Cranioectodermal dysplasia 1 | ||||
Cranioectodermal dysplasia 2 | ||||
Cranioectodermal dysplasia 3 | ||||
IFT43 | ||||
Cranioectodermal dysplasia 4 | ||||
1. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. |
2. |
Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. |
3. |
Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. |
4. |
OMIM.ORG article Omim 614099 |
5. |
Orphanet article Orphanet ID 79373 |