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
	Loeys-Dietz 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.

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

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

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

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

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

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

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

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.

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

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

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

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

14.	OMIM.ORG article Omim 185800

15.	Orphanet article Orphanet ID 3250

Update: June 23, 2025

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