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.


Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
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
Van Maldergem syndrome 2



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


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.


OMIM.ORG article

Omim 614485 [^]
Update: April 29, 2019