Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Loeys-Dietz 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.

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2.

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

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3.

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

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4.

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

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5.

OMIM.ORG article

Omim 600625 external link
Update: Aug. 14, 2020
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