Trigonocephaly 2

Trigonocephaly 2 is an autosomal dominant disorder caused by mutations of the FREM1 gene. Melformations also include metopic craniosynostosis and in some patients microcephaly and hypertelorism.

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
	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
		FREM1
	Van Maldergem syndrome 2

References:

1.	Vissers LE et al. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

2.	Swinkels ME et al. (2008) Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

3.	OMIM.ORG article Omim 614485

Update: Aug. 14, 2020

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