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Hypoplasia of the phalanges of the toes

MedGen UID:
869289
Concept ID:
C4023715
Anatomical Abnormality
Synonym: Small toe bones
 
HPO: HP:0010746

Conditions with this feature

Zaki syndrome
MedGen UID:
1794247
Concept ID:
C5562037
Disease or Syndrome
Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies (Chai et al., 2021).

Professional guidelines

PubMed

Kawabata H, Tamura D, Goldfarb CA
J Hand Surg Am 2021 Jan;46(1):68.e1-68.e7. Epub 2020 Aug 27 doi: 10.1016/j.jhsa.2020.07.007. PMID: 32863108
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Kawabata H, Okuno K, Tamura D, Higuchi C, Goldfarb CA
J Pediatr Orthop 2023 Sep 1;43(8):522-528. Epub 2023 Jul 3 doi: 10.1097/BPO.0000000000002465. PMID: 37400088
Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639
Gallart J, González D, Valero J, Deus J, Serrano P, Lahoz M
BMC Musculoskelet Disord 2014 Sep 5;15:295. doi: 10.1186/1471-2474-15-295. PMID: 25192734Free PMC Article
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Kim HT, Lee SH, Yoo CI, Kang JH, Suh JT
J Bone Joint Surg Br 2003 Jul;85(5):683-90. PMID: 12892191

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Pan Z, Lu W, Li X, Huang S, Dai P, Yuan Y
Am J Med Genet A 2020 Jun;182(6):1438-1448. Epub 2020 Apr 7 doi: 10.1002/ajmg.a.61583. PMID: 32259393
Sinha S, Chaudhary SN
J Indian Med Assoc 2006 Aug;104(8):474-5. PMID: 17240806
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L
J Med Genet 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. PMID: 8445623Free PMC Article

Therapy

Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Ulusoy H
Rheumatol Int 2012 May;32(5):1379-82. Epub 2010 Mar 27 doi: 10.1007/s00296-010-1426-1. PMID: 20349070
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
Cohen PD, Lester RS
J Cutan Med Surg 1999 Oct;3(6):302-5. doi: 10.1177/120347549900300605. PMID: 10575159
Turan I
J Foot Surg 1990 Mar-Apr;29(2):176-8. PMID: 2338477

Prognosis

Taniwaki H, Shintani K, Aono M
J Pediatr Orthop B 2024 Jan 1;33(1):53-57. Epub 2023 Feb 8 doi: 10.1097/BPB.0000000000001064. PMID: 36756944
Ozols D, Butnere MM, Petersons A
Medicina (Kaunas) 2019 Sep 20;55(10) doi: 10.3390/medicina55100610. PMID: 31547029Free PMC Article
Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
Eur J Hum Genet 2015 Dec;23(12):1640-5. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.38. PMID: 25758993Free PMC Article
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Galois L, Mainard D, Delagoutte JP
Acta Orthop Belg 2002 Oct;68(4):376-80. PMID: 12415940

Clinical prediction guides

Mohammad W, Malhotra SK, Garg PK
Indian J Lepr 2016 Apr;88(2):83-95. PMID: 29757540
Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
Eur J Hum Genet 2015 Dec;23(12):1640-5. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.38. PMID: 25758993Free PMC Article
Gallart J, González D, Valero J, Deus J, Serrano P, Lahoz M
BMC Musculoskelet Disord 2014 Sep 5;15:295. doi: 10.1186/1471-2474-15-295. PMID: 25192734Free PMC Article
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091

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