Van Maldergem syndrome 2

Van Maldergem syndrome 2 is an autosomal recessive disorder of malformations caused by mutations of the FAT4 gene. It is typically characterized by facial and skeletal malformations and a mental retardation.

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
	Van Maldergem syndrome 2
		FAT4

References:

1.	Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.

2.	Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

3.	Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

4.	OMIM.ORG article Omim 615546

5.	Orphanet article Orphanet ID 314679

Update: June 23, 2025

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