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Small epiphyses of the toes

MedGen UID:
869561
•Concept ID:
C4023989
•
Anatomical Abnormality
Synonym: Small end part of the toe bones
 
HPO: HP:0010170

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmall epiphyses of the toes

Professional guidelines

PubMed

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
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

Recent clinical studies

Diagnosis

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962
Fibrosarcoma of the toe: a destructive lesion of the distal phalanx.
Inoue A, Hasegawa T, Ikata T, Hizawa K
Clin Orthop Relat Res 1996 Dec;(333):239-44. PMID: 8981902

Therapy

Atypical malformations in an infant exposed to warfarin during the first trimester of pregnancy.
Ruthnum P, Tolmie JL
Teratology 1987 Dec;36(3):299-301. doi: 10.1002/tera.1420360305. PMID: 3424218

Prognosis

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962

Clinical prediction guides

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE
Nat Genet 1999 Jul;22(3):286-90. doi: 10.1038/10350. PMID: 10391218
Macrodystrophia lipomatosa: radiographic observations.
Gupta SK, Sharma OP, Sharma SV, Sood B, Gupta S
Br J Radiol 1992 Sep;65(777):769-73. doi: 10.1259/0007-1285-65-777-769. PMID: 1393412

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