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.

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.

5.	OMIM.ORG article Omim 600625

Update: June 23, 2025

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