Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.


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



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


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


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


OMIM.ORG article

Omim 615546 [^]

Orphanet article

Orphanet ID 314679 [^]
Update: April 29, 2019