Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Proximal symphalangism

Symphalangism of the Cushing type is genetically heterogeneous disease. It is characterized by fusion of proximal interphalangeal joints, carpals, tarsals, and sometimes conductive hearing loss.

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
Proximal symphalangism 1A
NOG
Proximal symphalangism 1B
GDF5
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

References:

1.

Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

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2.

Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

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3.

None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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4.

Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

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5.

Smith RJ et al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts).

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6.

Kassner EG et al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

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7.

Cremers C et al. (1985) Proximal symphalangia and stapes ankylosis.

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8.

Gorlin RJ et al. (1970) Stapes fixation a proximal symphalangism.

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9.

Wildervanck LS et al. (1967) Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an EuropeanIndonesianChinese family.

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10.

Elkington SG et al. (1967) The Talbot fingers: a study in symphalangism.

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11.

None (1960) Symphalangism, strabismus and hearing loss in mother and daughter.

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12.

None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.

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13.

None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations.

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14.

OMIM.ORG article

Omim 185800 [^]
15.

Orphanet article

Orphanet ID 3250 [^]
Update: April 29, 2019