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Shortening of all distal phalanges of the toes

MedGen UID:
870678
Concept ID:
C4025132
Anatomical Abnormality
Synonym: Shortening of all outermost bone of the toes
 
HPO: HP:0005793

Definition

Abnormally short distal phalanx of toe of all toes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShortening of all distal phalanges of the toes

Conditions with this feature

Cooks syndrome
MedGen UID:
354848
Concept ID:
C1862841
Disease or Syndrome
Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).

Recent clinical studies

Etiology

Malagelada F, Welck MJ, Clark C
Foot Ankle Surg 2018 Jun;24(3):224-228. Epub 2017 Feb 27 doi: 10.1016/j.fas.2017.02.009. PMID: 29409211
Tóth K, Kellermann P, Wellinger K
Arch Orthop Trauma Surg 2010 Oct;130(10):1257-61. Epub 2010 Jan 5 doi: 10.1007/s00402-009-1024-4. PMID: 20049609
Cohen MM
J Foot Ankle Surg 2003 Sep-Oct;42(5):282-9. doi: 10.1016/s1067-2516(03)00309-0. PMID: 14566720
Bokhari A, Connolly S, Coull BA, Harvey EA, Holmes LB
Teratology 2002 Sep;66(3):122-6. doi: 10.1002/tera.10085. PMID: 12210473
Hootnick DR, Packard DS Jr, Levinsohn EM, Factor DA
J Anat 1991 Feb;174:1-17. PMID: 2032928Free PMC Article

Diagnosis

Hirata Y, Shiiya C, Miyamoto J, Saito M
J Dermatol 2022 Sep;49(9):925-927. Epub 2022 Jun 6 doi: 10.1111/1346-8138.16486. PMID: 35670035
Danarti R, Rahmayani S, Wirohadidjojo YW, Chen W
Eur J Dermatol 2020 Aug 1;30(4):404-407. doi: 10.1684/ejd.2020.3850. PMID: 32969800
Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M
Am J Med Genet A 2020 Oct;182(10):2432-2436. Epub 2020 Aug 13 doi: 10.1002/ajmg.a.61788. PMID: 32789964
Malagelada F, Welck MJ, Clark C
Foot Ankle Surg 2018 Jun;24(3):224-228. Epub 2017 Feb 27 doi: 10.1016/j.fas.2017.02.009. PMID: 29409211
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

Therapy

Cohen MM
J Foot Ankle Surg 2003 Sep-Oct;42(5):282-9. doi: 10.1016/s1067-2516(03)00309-0. PMID: 14566720
Bokhari A, Connolly S, Coull BA, Harvey EA, Holmes LB
Teratology 2002 Sep;66(3):122-6. doi: 10.1002/tera.10085. PMID: 12210473

Prognosis

Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free 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
Bárdos T, Zhang J, Mikecz K, David CS, Glant TT
Arthritis Rheum 2002 Sep;46(9):2465-75. doi: 10.1002/art.10637. PMID: 12355495
Ikegawa S, Hoshikawa Y, Doi M
Arch Orthop Trauma Surg 1992;111(3):181-2. doi: 10.1007/BF00388096. PMID: 1586583
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513

Clinical prediction guides

Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A
Arthritis Rheumatol 2016 Sep;68(9):2323-7. Epub 2016 Jul 29 doi: 10.1002/art.39659. PMID: 26945816
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
Hootnick DR, Packard DS Jr, Levinsohn EM, Factor DA
J Anat 1991 Feb;174:1-17. PMID: 2032928Free PMC Article
Singer M, Weckesser EC, Géraudie J, Maier CE, Singer J
Anat Embryol (Berl) 1987;177(1):29-36. doi: 10.1007/BF00325287. PMID: 3439635

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