Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2p24.1
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613610.1.1 | Saudi Arabia | Female | Yes | Yes | Strabismus; Renal insufficiency; Hepatic... Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay; Depressed nasal bridge; Cerebellar atrophy  | NM_020779.4:c.206G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Maddirevula et al. 2020 | |
| 613610.1.2 | Saudi Arabia | Female | Yes | Yes | Strabismus; Renal insufficiency; Hepatic... Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay | NM_020779.4:c.206G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018; Maddirevula et al. 2020 | Sister of 613610.1.1 |