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Symphalangism of the 4th finger

MedGen UID:
867316
•Concept ID:
C4021679
•
Congenital Abnormality
Synonyms: Fused ring finger bones; Symphalangism of the ring finger
 
HPO: HP:0004197

Definition

Fusion of two or more bones of the 4th finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymphalangism of the 4th 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

On-top plasty using a free metacarpal head graft for lengthening of proximal phalanx in symbrachydactyly--a case report.
Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137

Diagnosis

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
Poland's syndrome with unusual hand and chest anomalies: a rare case report.
Yadav GK, Lal S, Dange N, Marwah KG, Singh JP
Indian J Chest Dis Allied Sci 2014 Jul-Sep;56(3):191-4. PMID: 25823118
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592
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

Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).
Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672
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
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
On-top plasty using a free metacarpal head graft for lengthening of proximal phalanx in symbrachydactyly--a case report.
Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137

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
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
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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