Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Stapes ankylosis with broad thumbs and toes

Teunissen-Cremers syndrome is an autosomal dominant disorder caused by mutations of the NOG gene. Its features include broad thumbs, broad first toes, syndactyly, hyperopia, and congenital conductive hearing loss because of stapes ankylosis.

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
NOG
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Furuta Y et. al. (1998) BMP4 is essential for lens induction in the mouse embryo.

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2.

Milunsky J et. al. (1999) Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.

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3.

Trousse F et. al. (2001) Bmp4 mediates apoptotic cell death in the developing chick eye.

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4.

Brown DJ et. al. (2002) Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

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5.

Hirshoren N et. al. () P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.

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6.

Teunissen B et. al. (1990) An autosomal dominant inherited syndrome with congenital stapes ankylosis.

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7.

Hilhorst-Hofstee Y et. al. (1997) The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

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Update: Sept. 26, 2018