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Aplasia of the 5th metacarpal

MedGen UID:
356875
Concept ID:
C1867929
Finding
Synonym: Absent 5th metacarpal
 
HPO: HP:0010046

Definition

Absence of the fifth long bone of the hand. [from HPO]

Conditions with this feature

Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Postaxial tetramelic oligodactyly
MedGen UID:
357380
Concept ID:
C1867924
Congenital Abnormality
A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.

Recent clinical studies

Etiology

Wierer G, Plachel F, Winkler PW, Grossauer T, Quirchmayr M, Hoffelner T, Moroder P
Orthop Traumatol Surg Res 2020 Dec;106(8):1653-1658. Epub 2020 Oct 22 doi: 10.1016/j.otsr.2020.06.018. PMID: 33268301
Claassen H, Schmitt O, Schulze M, Wree A
Surg Radiol Anat 2013 Dec;35(10):893-9. Epub 2013 Apr 5 doi: 10.1007/s00276-013-1113-5. PMID: 23558800
Sükür M, Darendeliler F, Bundak R, Baş F, Saka N, Günöz H
Ann Hum Biol 1997 Jul-Aug;24(4):371-5. doi: 10.1080/03014469700005122. PMID: 9239443

Diagnosis

Wierer G, Plachel F, Winkler PW, Grossauer T, Quirchmayr M, Hoffelner T, Moroder P
Orthop Traumatol Surg Res 2020 Dec;106(8):1653-1658. Epub 2020 Oct 22 doi: 10.1016/j.otsr.2020.06.018. PMID: 33268301
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
Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2019 Jul;62(7):103664. Epub 2019 May 5 doi: 10.1016/j.ejmg.2019.05.003. PMID: 31067494
Zelinska N, Shevchenko I, Globa E
J Clin Res Pediatr Endocrinol 2018 Jul 31;10(3):256-263. Epub 2018 Feb 28 doi: 10.4274/jcrpe.5119. PMID: 29537378Free PMC Article
Claassen H, Schmitt O, Schulze M, Wree A
Surg Radiol Anat 2013 Dec;35(10):893-9. Epub 2013 Apr 5 doi: 10.1007/s00276-013-1113-5. PMID: 23558800

Therapy

Sobreira N, Cernach M, Batista D, Brunoni D, Perez A
Am J Med Genet A 2009 Dec;149A(12):2843-8. doi: 10.1002/ajmg.a.33125. PMID: 19938091
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Clinical prediction guides

Wierer G, Plachel F, Winkler PW, Grossauer T, Quirchmayr M, Hoffelner T, Moroder P
Orthop Traumatol Surg Res 2020 Dec;106(8):1653-1658. Epub 2020 Oct 22 doi: 10.1016/j.otsr.2020.06.018. PMID: 33268301
Guevara-Aguirre J, Guevara-Aguirre M, Hwa V, Prócel P, Saavedra J, Ostrer H, Fang P, Rosenfeld RG, Kerns S, Rosenbloom AL
Eur J Endocrinol 2012 Mar;166(3):521-9. Epub 2011 Dec 14 doi: 10.1530/EJE-11-0769. PMID: 22170795
Mendioroz J, Fernández-Toral J, Suárez E, López-Grondona F, Kjaer KW, Bermejo E, Martínez-Frías ML
Am J Med Genet A 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728. PMID: 15887301
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP
Am J Med Genet 1999 Nov 19;87(2):175-9. doi: 10.1002/(sici)1096-8628(19991119)87:2<175::aid-ajmg9>3.0.co;2-#. PMID: 10533032
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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