Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Orofacial cleft 11

Orofacial cleft 11 is caused by mutations of the BMP4 gene.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
BMP4
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Liu W et. al. (2005) Distinct functions for Bmp signaling in lip and palate fusion in mice.

[^]
2.

Suzuki S et. al. (2009) Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

[^]
3.

Castilla EE et. al. (1995) Congenital healed cleft lip.

[^]
4.

Neiswanger K et. al. (2007) Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.

[^]
Update: Sept. 26, 2018