U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aplasia/Hypoplasia of fingers

MedGen UID:
870620
Concept ID:
C4025071
Anatomical Abnormality
Synonyms: Absent/small fingers; Absent/underdeveloped fingers
 
HPO: HP:0006265

Definition

Small/hypoplastic or absent/aplastic fingers. [from HPO]

Conditions with this feature

Fuhrmann syndrome
MedGen UID:
346429
Concept ID:
C1856728
Disease or Syndrome
This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).

Recent clinical studies

Etiology

Al-Qattan MM
J Hand Surg Eur Vol 2012 Mar;37(3):258-62. Epub 2011 Nov 7 doi: 10.1177/1753193411426808. PMID: 22064729
Al-Qattan MM
J Hand Surg Eur Vol 2010 Mar;35(3):182-7. Epub 2009 Dec 9 doi: 10.1177/1753193409352417. PMID: 20007421

Diagnosis

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
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588
Lee SY, Li CK, Ling SC, Shiu YK
J Matern Fetal Neonatal Med 2009 Aug;22(8):711-3. doi: 10.1080/14767050902994556. PMID: 19521930
Kääriäinen H, Ryöppy S, Norio R
Am J Med Genet 1989 Jul;33(3):346-51. doi: 10.1002/ajmg.1320330312. PMID: 2801769

Therapy

Lee SY, Li CK, Ling SC, Shiu YK
J Matern Fetal Neonatal Med 2009 Aug;22(8):711-3. doi: 10.1080/14767050902994556. PMID: 19521930

Clinical prediction guides

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588
Majewski E, Goecke T, Meinecke P
Am J Med Genet 1996 May 3;63(1):185-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<185::AID-AJMG32>3.0.CO;2-I. PMID: 8723107

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...