Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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.

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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.

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3.

OMIM.ORG article

Omim 614485 [^]
Update: April 29, 2019