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Hand oligodactyly

MedGen UID:
152602
•Concept ID:
C0728895
•
Congenital Abnormality; Finding
Synonyms: Absent finger; Finger missing
SNOMED CT: Finger missing (71358006); Absent finger (71358006)

Professional guidelines

PubMed

Unilateral hand oligodactyly: prenatal diagnosis with 3-dimensional sonography.
Morales Roselló J, García Almela A, Pérez Corella DA, Montesinos Sepúlveda L
J Ultrasound Med 2012 Nov;31(11):1856-7. doi: 10.7863/jum.2012.31.11.1856. PMID: 23091259

Recent clinical studies

Etiology

Extremity Findings of Methotrexate Embryopathy.
Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Congenital anomalies of digits - a clinical-epidemiological study of 301 patients.
Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings.
Aslan H, Karaman B, Yildirim G, Ceylan Y
Prenat Diagn 2005 Nov;25(11):1024-7. doi: 10.1002/pd.1241. PMID: 16231308

Diagnosis

Pallister-Hall syndrome in a 2-years-old girl.
Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Drivas TG, Taylor JA, Zackai EH
Am J Med Genet A 2019 Jun;179(6):1063-1068. Epub 2019 Mar 28 doi: 10.1002/ajmg.a.61121. PMID: 30924273
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW
BMC Med Genet 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1. PMID: 30041615Free PMC Article
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H
Eur J Med Genet 2017 Nov;60(11):578-582. Epub 2017 Aug 12 doi: 10.1016/j.ejmg.2017.08.006. PMID: 28807869
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J
Eur J Med Genet 2014 Sep;57(9):503-9. Epub 2014 May 27 doi: 10.1016/j.ejmg.2014.05.006. PMID: 24874887

Therapy

Extremity Findings of Methotrexate Embryopathy.
Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J
Eur J Med Genet 2014 Sep;57(9):503-9. Epub 2014 May 27 doi: 10.1016/j.ejmg.2014.05.006. PMID: 24874887
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
Marles SL, Reed M, Evans JA
Am J Med Genet A 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731. PMID: 12476458
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L
Am J Med Genet 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. PMID: 7726229

Prognosis

Pallister-Hall syndrome in a 2-years-old girl.
Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
Correlation between 3D ultrasound appearance and postnatal findings in bilateral malformations of the fetal hands.
Muscatello A, Mastrocola N, Di Nicola M, Patacchiola F, Carta G
Fetal Diagn Ther 2012;31(2):138-40. Epub 2012 Jan 11 doi: 10.1159/000335405. PMID: 22236723
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH
Dermatology 2005;211(2):155-8. doi: 10.1159/000086448. PMID: 16088165

Clinical prediction guides

Congenital anomalies of digits - a clinical-epidemiological study of 301 patients.
Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981
Robin sequence and oligodactyly in mother and son.
Robinow M, Johnson GF, Apesos J
Am J Med Genet 1986 Oct;25(2):293-7. doi: 10.1002/ajmg.1320250214. PMID: 3777025

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