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Symphalangism of the 2nd finger

MedGen UID:
867088
•Concept ID:
C4021446
•
Anatomical Abnormality
Synonyms: Fused index finger bones; Symphalangism of index finger phalanges
 
HPO: HP:0009545

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymphalangism of the 2nd finger

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
Interconnection between Mixed-Handedness, Digit Ratios and Hand and Foot Minor Anomalies in Predicting Schizophrenia.
Babovic SS, Srdic Galic BD, Krstonosic BS, Petricevic SD, Siladji DS, Ralevic S, Babic SM, Novakovic AD, Stilinovic NP
Psychiatr Danub 2022 Fall;34(3):431-438. doi: 10.24869/psyd.2022.431. PMID: 36256980
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Garavelli L, Gargano G, Simonte G, Rosato S, Wischmeijer A, Melli N, Braibanti S, Gelmini C, Forzano F, Pietrobono R, Pomponi MG, Andreucci E, Toutain A, Superti-Furga A, Neri G
Am J Med Genet A 2012 Sep;158A(9):2245-9. Epub 2012 Jul 17 doi: 10.1002/ajmg.a.35474. PMID: 22807161

Diagnosis

Interconnection between Mixed-Handedness, Digit Ratios and Hand and Foot Minor Anomalies in Predicting Schizophrenia.
Babovic SS, Srdic Galic BD, Krstonosic BS, Petricevic SD, Siladji DS, Ralevic S, Babic SM, Novakovic AD, Stilinovic NP
Psychiatr Danub 2022 Fall;34(3):431-438. doi: 10.24869/psyd.2022.431. PMID: 36256980
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
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Taşdelen E, Durmaz CD, Karabulut HG
Cytogenet Genome Res 2018;154(4):181-186. Epub 2018 Jun 15 doi: 10.1159/000489000. PMID: 29902798
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V
Am J Med Genet 2001 Jan 1;98(1):92-100. PMID: 11426460

Therapy

ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
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

Interconnection between Mixed-Handedness, Digit Ratios and Hand and Foot Minor Anomalies in Predicting Schizophrenia.
Babovic SS, Srdic Galic BD, Krstonosic BS, Petricevic SD, Siladji DS, Ralevic S, Babic SM, Novakovic AD, Stilinovic NP
Psychiatr Danub 2022 Fall;34(3):431-438. doi: 10.24869/psyd.2022.431. PMID: 36256980

Clinical prediction guides

Interconnection between Mixed-Handedness, Digit Ratios and Hand and Foot Minor Anomalies in Predicting Schizophrenia.
Babovic SS, Srdic Galic BD, Krstonosic BS, Petricevic SD, Siladji DS, Ralevic S, Babic SM, Novakovic AD, Stilinovic NP
Psychiatr Danub 2022 Fall;34(3):431-438. doi: 10.24869/psyd.2022.431. PMID: 36256980
A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance.
Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P
Clin Genet 1987 Jan;31(1):13-8. doi: 10.1111/j.1399-0004.1987.tb02761.x. PMID: 3568429
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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