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Aplasia of the 4th finger

MedGen UID:
870041
Concept ID:
C4024472
Finding
Synonym: Absent ring finger
 
HPO: HP:0009281

Definition

Absent 4th finger. [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).

Professional guidelines

PubMed

Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free PMC Article

Recent clinical studies

Etiology

Korucu IH, Duman N
J Coll Physicians Surg Pak 2024 May;34(5):600-603. doi: 10.29271/jcpsp.2024.05.600. PMID: 38720223
Elsaftawy A, Gworys B, Jabłecki J, Szajerka T
Pol Przegl Chir 2013 Aug;85(8):419-23. doi: 10.2478/pjs-2013-0064. PMID: 24009051
Williams KD, Nahhas RW, Cottom CR, Lawrence S, Subedi J, Jha B, Czerwinski SA, Blangero J, Williams-Blangero S, Towne B
Am J Hum Biol 2012 Jan-Feb;24(1):68-73. Epub 2011 Dec 1 doi: 10.1002/ajhb.22205. PMID: 22131202Free PMC Article
Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F
Clin Dysmorphol 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. PMID: 21346561
Postert T, Eyding J, Berg D, Przuntek H, Becker G, Finger M, Schöls L
J Neural Transm Suppl 2004;(68):123-33. doi: 10.1007/978-3-7091-0579-5_15. PMID: 15354398

Diagnosis

Korucu IH, Duman N
J Coll Physicians Surg Pak 2024 May;34(5):600-603. doi: 10.29271/jcpsp.2024.05.600. PMID: 38720223
Houb-Dine A, Jalila H, Zaoui F, Benkaddour A
Tunis Med 2023 Apr 5;101(4):456-459. PMID: 38372531Free PMC Article
Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free 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
Zlatkin MB, Rosner J
Magn Reson Imaging Clin N Am 2004 May;12(2):301-31, vi-vii. doi: 10.1016/j.mric.2004.02.012. PMID: 15172388

Therapy

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
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
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
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C
Am J Med Genet A 2016 Mar;170(3):717-24. Epub 2015 Nov 21 doi: 10.1002/ajmg.a.37478. PMID: 26590955
Yammine K
Clin Anat 2014 Nov;27(8):1284-90. Epub 2014 Jun 23 doi: 10.1002/ca.22429. PMID: 24953717
Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137
Karaoguz MY, Biri A, Pala E, Kan D, Poyraz A, Kurdoglu M, Percin EF
Genet Couns 2006;17(2):197-204. PMID: 16970038

Clinical prediction guides

Korucu IH, Duman N
J Coll Physicians Surg Pak 2024 May;34(5):600-603. doi: 10.29271/jcpsp.2024.05.600. PMID: 38720223
Prepeluh N, Korpar B, Zagorac A, Zagradišnik B, Golub A, Kokalj Vokač N
BMC Pediatr 2018 Aug 1;18(1):254. doi: 10.1186/s12887-018-1234-4. PMID: 30068298Free PMC Article
Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H
Clin Genet 2014 May;85(5):476-81. Epub 2013 Jun 12 doi: 10.1111/cge.12198. PMID: 23692385
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
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Recent systematic reviews

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