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Symphalangism of the 5th finger

MedGen UID:
867313
•Concept ID:
C4021676
•
Anatomical Abnormality
Synonym: Fifth finger symphalangism
 
HPO: HP:0004218

Definition

Fusion of two or more bones of the 5th finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymphalangism of the 5th finger

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

Recent clinical studies

Etiology

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.
Bourousis E, Xatzipsalti M, Polychroni I, Kanavakis E, Stamoyannou L
Hormones (Athens) 2024 Sep;23(3):591-593. Epub 2024 May 24 doi: 10.1007/s42000-024-00562-x. PMID: 38789914
Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.
Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984
Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.
Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA
Am J Med Genet A 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227. PMID: 20101693

Diagnosis

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.
Bourousis E, Xatzipsalti M, Polychroni I, Kanavakis E, Stamoyannou L
Hormones (Athens) 2024 Sep;23(3):591-593. Epub 2024 May 24 doi: 10.1007/s42000-024-00562-x. PMID: 38789914
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature.
Lai S, Zhang X, Feng L, He M, Wang S
Medicine (Baltimore) 2020 Oct 16;99(42):e22533. doi: 10.1097/MD.0000000000022533. PMID: 33080687Free PMC Article
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 fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D
Eur J Med Genet 2010 Jan-Feb;53(1):19-22. Epub 2009 Oct 4 doi: 10.1016/j.ejmg.2009.08.007. PMID: 19808103

Therapy

Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
Zaib T, Ji W, Saleem K, Nie G, Li C, Cao L, Xu B, Dong K, Yu H, Hao X, Xue Y, Si S, Jia X, Wu J, Zhang X, Guan R, Ji G, Bai J, Chen F, Liu Y, Sun W, Fu S
BMC Med Genet 2019 Dec 23;20(1):203. doi: 10.1186/s12881-019-0908-6. PMID: 31870337Free PMC Article
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.
Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984
Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error.
Zeng S, Patil SR, Yankowitz J
Am J Med Genet A 2003 Aug 1;120A(4):464-9. doi: 10.1002/ajmg.a.20189. PMID: 12884423

Clinical prediction guides

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
Zaib T, Ji W, Saleem K, Nie G, Li C, Cao L, Xu B, Dong K, Yu H, Hao X, Xue Y, Si S, Jia X, Wu J, Zhang X, Guan R, Ji G, Bai J, Chen F, Liu Y, Sun W, Fu S
BMC Med Genet 2019 Dec 23;20(1):203. doi: 10.1186/s12881-019-0908-6. PMID: 31870337Free PMC Article
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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