Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tarsal-carpal coalition syndrome

Tarsal-carpal coalition syndrome is an autosomal dominant disorder caused by mutations of the NOG gene. It is characterized by fusion of the carpals, tarsals, and phalanges.

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
NOG
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Drawbert JP et al. (1985) Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

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2.

Dixon ME et al. () Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

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3.

Gregersen HN et al. (1977) Congenital malformation of the feet with low body height. A new syndrome, caused by an autosomal dominant gene.

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4.

OMIM.ORG article

Omim 186570 [^]
5.

Orphanet article

Orphanet ID 1412 [^]
Update: April 29, 2019