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Abnormal 2nd finger morphology

MedGen UID:
867320
•Concept ID:
C4021683
•
Anatomical Abnormality
Synonyms: Abnormality of index finger; Abnormality of the 2nd finger
 
HPO: HP:0004100

Definition

An anomaly of the second finger, also known as the index finger. [from HPO]

Recent clinical studies

Etiology

Classification for Thumb Opposition in Children with Thumb Hypoplasia.
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A
Mol Genet Genomic Med 2021 Mar;9(3):e1594. Epub 2021 Jan 24 doi: 10.1002/mgg3.1594. PMID: 33486847Free PMC Article
Investigation of FANCA mutations in Greek patients.
Selenti N, Sofocleous C, Kattamis A, Kolialexi A, Kitsiou S, Fryssira E, Polychronopoulou S, Kanavakis E, Mavrou A
Anticancer Res 2013 Aug;33(8):3369-74. PMID: 23898106
A dermatoglyphic study of a group of Sicilian children with fragile-X syndrome.
Milone G, Conti L, Rizzo R, Sanfilippo S, Sammito V, Romano C
Am J Med Genet 1988 May-Jun;30(1-2):177-83. doi: 10.1002/ajmg.1320300116. PMID: 3177443
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
Meinecke P, Fryns JP
Clin Genet 1985 Dec;28(6):516-20. doi: 10.1111/j.1399-0004.1985.tb00419.x. PMID: 4075561

Diagnosis

A short ring finger points to a diagnosis of Turner syndrome again.
Major J, Pusztai P, Igaz P
Lancet 2020 Mar 14;395(10227):e51. doi: 10.1016/S0140-6736(20)30235-X. PMID: 32171415
Progressive fingertip necrosis after nail avulsion injury in a patient with ulnar artery hypoplasia: A case report.
Jeong YJ, Park SH, Lee JY
Medicine (Baltimore) 2017 Apr;96(14):e6324. doi: 10.1097/MD.0000000000006324. PMID: 28383404Free PMC Article
Hypertrophic Osteoarthropathy: Clinical and Imaging Features.
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Investigation of FANCA mutations in Greek patients.
Selenti N, Sofocleous C, Kattamis A, Kolialexi A, Kitsiou S, Fryssira E, Polychronopoulou S, Kanavakis E, Mavrou A
Anticancer Res 2013 Aug;33(8):3369-74. PMID: 23898106
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
Meinecke P, Fryns JP
Clin Genet 1985 Dec;28(6):516-20. doi: 10.1111/j.1399-0004.1985.tb00419.x. PMID: 4075561

Therapy

Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction: A case report and literature review.
Angkathunyakul N, Treepongkaruna S, Molagool S, Ruangwattanapaisarn N
World J Gastroenterol 2015 Jun 14;21(22):7059-64. doi: 10.3748/wjg.v21.i22.7059. PMID: 26078585Free PMC Article
Metal ring on 4th or 5th finger markedly increases both cardiac troponin I at left ventricle and cancer-related parameters such as oncogen C-fosAb2 & integrin α₅β₁[corrected] by 4-12 times. Thus these metal rings appear to promote both heart problems & cancer.
Omura Y, Hines H, Jones M, O'Young B, Duvvi H, Lu DP, Pallos A, Shimotsuura Y, Ohki M
Acupunct Electrother Res 2010;35(1-2):45-69. doi: 10.3727/036012910803860977. PMID: 20578646
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

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.
Kesdiren E, Martens H, Brand F, Werfel L, Wedekind L, Trowe MO, Schmitz J, Hennies I, Geffers R, Gucev Z, Seeman T, Schmidt S, Tasic V, Fasano L, Bräsen JH, Kispert A, Christians A, Haffner D, Weber RG
Eur J Hum Genet 2025 Jan;33(1):44-55. Epub 2024 Oct 17 doi: 10.1038/s41431-024-01710-y. PMID: 39420202Free PMC Article
Hypertrophic Osteoarthropathy: Clinical and Imaging Features.
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Different effect of IgA nephropathy and polycystic kidney disease on arterial stiffness.
Késoi I, Sági B, Tóth OI, Vas T, Fazekas A, Kovács T, Pintér T, Wittmann I, Nagy J
Kidney Blood Press Res 2011;34(3):158-66. Epub 2011 Apr 7 doi: 10.1159/000326802. PMID: 21474963
A dermatoglyphic study of a group of Sicilian children with fragile-X syndrome.
Milone G, Conti L, Rizzo R, Sanfilippo S, Sammito V, Romano C
Am J Med Genet 1988 May-Jun;30(1-2):177-83. doi: 10.1002/ajmg.1320300116. PMID: 3177443
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
Meinecke P, Fryns JP
Clin Genet 1985 Dec;28(6):516-20. doi: 10.1111/j.1399-0004.1985.tb00419.x. PMID: 4075561

Clinical prediction guides

2D/4D Finger Length Ratio in the Screening of Developmental Dysplasia of the Hip.
Korucu IH, Duman N
J Coll Physicians Surg Pak 2024 May;34(5):600-603. doi: 10.29271/jcpsp.2024.05.600. PMID: 38720223
Validation and incorporation of digital entheses into a preliminary GLobal OMERACT Ultrasound DActylitis Score (GLOUDAS) in psoriatic arthritis.
Naredo E, D'Agostino MA, Terslev L, Pineda C, Miguel MI, Blasi J, Bruyn GA, Kortekaas MC, Mandl P, Nestorova R, Szkudlarek M, Todorov P, Vlad V, Wong P, Bakewell C, Filippucci E, Zabotti A, Micu M, Vreju F, Mortada M, Mendonça JA, Guillen-Astete CA, Olivas-Vergara O, Iagnocco A, Hanova P, Tinazzi I, Balint PV, Aydin SZ, Kane D, Keen H, Kaeley GS, Möller I
Ann Rheum Dis 2024 Jul 15;83(8):1060-1071. doi: 10.1136/ard-2023-225278. PMID: 38531611
Classification for Thumb Opposition in Children with Thumb Hypoplasia.
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
Epidemiological analysis of rare polydactylies.
Castilla EE, Lugarinho da Fonseca R, da Graca Dutra M, Bermejo E, Cuevas L, Martínez-Frías ML
Am J Med Genet 1996 Nov 11;65(4):295-303. doi: 10.1002/(SICI)1096-8628(19961111)65:4<295::AID-AJMG10>3.0.CO;2-P. PMID: 8923939
A dermatoglyphic study of a group of Sicilian children with fragile-X syndrome.
Milone G, Conti L, Rizzo R, Sanfilippo S, Sammito V, Romano C
Am J Med Genet 1988 May-Jun;30(1-2):177-83. doi: 10.1002/ajmg.1320300116. PMID: 3177443

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