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Proximal symphalangism

MedGen UID:
348856
•Concept ID:
C1861385
•
Disease or Syndrome
Synonyms: CUSHING SYMPHALANGISM; Cushing's symphalangism; Hereditary absence of proximal interphalangeal joints; HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS; Proximal symphalangism (disease); Strasburger-Hawkins-Eldridge syndrome; Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome; Vessel's syndrome
SNOMED CT: Symphalangism Cushing type (1162837001); Proximal interphalangeal joint symphalangism Cushing type (1162837001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
HPO: HP:0100264
Monarch Initiative: MONDO:0008511
OMIM® Phenotypic series: PS185800
Orphanet: ORPHA3250

Definition

A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProximal symphalangism
Follow this link to review classifications for Proximal symphalangism in Orphanet.

Conditions with this feature

Multiple synostoses syndrome 2
MedGen UID:
331348
•Concept ID:
C1832708
•
Disease or Syndrome
Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).
See: Condition Record
Multiple synostoses syndrome 2

Professional guidelines

PubMed

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free PMC Article
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686

Recent clinical studies

Etiology

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.
Declau F, Van den Ende J, Baten E, Mattelaer P
Otol Neurotol 2005 Sep;26(5):934-40. doi: 10.1097/01.mao.0000185074.58199.6b. PMID: 16151340
Humeroradial synostosis and the multiple synostosis syndrome: case report.
McIntyre JD, Brooks A, Benson MK
J Pediatr Orthop B 2003 May;12(3):192-6. doi: 10.1097/01.bpb.0000060287.16932.ec. PMID: 12703033
Proximal symphalangism associated with conductive hearing loss.
Akama H, Kiyotaki M, Motojima S
Arthritis Care Res 2000 Oct;13(5):333-4. doi: 10.1002/1529-0131(200010)13:5<333::aid-anr14>3.0.co;2-5. PMID: 14635304
Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.
Edwards MJ, Rowe L, Petroff V
Am J Med Genet 2000 Nov 13;95(2):118-22. PMID: 11078560
Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.
Majewski F
Am J Med Genet 2000 Aug 14;93(4):335-8. doi: 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5. PMID: 10946362

Diagnosis

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Chooey J, Trexler C, Becker AM, Hogue JS
Am J Med Genet A 2022 Jan;188(1):269-271. Epub 2021 Sep 2 doi: 10.1002/ajmg.a.62486. PMID: 34472207
Proximal symphalangism and premature ovarian failure.
Kadi N, Tahiri L, Maziane M, Mernissi FZ, Harzy T
Joint Bone Spine 2012 Jan;79(1):83-4. Epub 2011 Nov 15 doi: 10.1016/j.jbspin.2011.05.029. PMID: 22088931
Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.
Majewski F
Am J Med Genet 2000 Aug 14;93(4):335-8. doi: 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5. PMID: 10946362
Proximal symphalangism and congenital conductive hearing loss: otologic aspects.
Ensink RJ, Sleeckx JP, Cremers CW
Am J Otol 1999 May;20(3):344-9. PMID: 10337976
Stapes fixation a proximal symphalangism.
Gorlin RJ, Kietzer G, Wolfson J
Z Kinderheilkd 1970;108(1):12-6. doi: 10.1007/BF00440561. PMID: 5440467

Therapy

Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism.
Tanikawa T, Okada Y, Azuma T, Fukushima A, Kawahara C, Tanaka Y
J Bone Miner Res 2004 Jan;19(1):165-7. doi: 10.1359/JBMR.0301210. PMID: 14753748

Prognosis

Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z
Clin Chim Acta 2014 Feb 15;429:129-33. Epub 2013 Dec 8 doi: 10.1016/j.cca.2013.12.004. PMID: 24326127
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WHY, Luo Y, Zhang X
J Hum Genet 2008;53(4):368-374. Epub 2008 Feb 19 doi: 10.1007/s10038-008-0253-7. PMID: 18283415
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T
Fertil Steril 2004 Apr;81(4):1137-9. doi: 10.1016/j.fertnstert.2003.08.054. PMID: 15066478
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.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article
Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.
Majewski F
Am J Med Genet 2000 Aug 14;93(4):335-8. doi: 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5. PMID: 10946362

Clinical prediction guides

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WHY, Luo Y, Zhang X
J Hum Genet 2008;53(4):368-374. Epub 2008 Feb 19 doi: 10.1007/s10038-008-0253-7. PMID: 18283415
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T
Fertil Steril 2004 Apr;81(4):1137-9. doi: 10.1016/j.fertnstert.2003.08.054. PMID: 15066478
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.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654Free PMC Article
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
Polymeropoulos MH, Poush J, Rubenstein JR, Francomano CA
Genomics 1995 May 20;27(2):225-9. doi: 10.1006/geno.1995.1035. PMID: 7557985

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