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Abnormal epiphysis morphology of the phalanges of the hand

MedGen UID:
867253
•Concept ID:
C4021613
•
Anatomical Abnormality
Synonym: Abnormality of the epiphyses of the phalanges of the hand
 
HPO: HP:0005920

Definition

Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [from HPO]

Conditions with this feature

Vitreoretinopathy with phalangeal epiphyseal dysplasia
MedGen UID:
343940
•Concept ID:
C1852989
•
Disease or Syndrome
Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED) is an autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly. Stature is normal, and high myopia, cleft palate, and midfacial hypoplasia are absent (Richards et al., 2002).
See: Condition Record
Vitreoretinopathy with phalangeal epiphyseal dysplasia

Recent clinical studies

Etiology

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Dias C, Cairns R, Patel MS
Clin Dysmorphol 2009 Jan;18(1):25-29. doi: 10.1097/MCD.0b013e3283186907. PMID: 19050401
Long term follow-up of composite non-vascularized toe phalanx transfers for aphalangia.
Tonkin MA, Deva AK, Filan SL
J Hand Surg Br 2005 Oct;30(5):452-8. doi: 10.1016/j.jhsb.2005.06.001. PMID: 16029918
Duplicated longitudinal bracketed epiphysis 'kissing delta phalanx' in the hand.
Wood VE, Shuren N
J Hand Surg Br 2002 Jun;27(3):249-52. doi: 10.1054/jhsb.2001.0713. PMID: 12074612
Preossified longitudinal epiphyseal bracket of the foot: treatment by partial bracket excision before ossification.
Shea KG, Mubarak SJ, Alamin T
J Pediatr Orthop 2001 May-Jun;21(3):360-5. PMID: 11371821
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.
Giedion A
Pediatr Radiol 1998 Oct;28(10):751-8. doi: 10.1007/s002470050460. PMID: 9799296

Diagnosis

Appearance of the delta phalanx (longitudinally bracketed epiphysis) with MR imaging.
Johnson JM, Higgins TJ, Lemos D
Pediatr Radiol 2011 Mar;41(3):394-6. Epub 2010 Oct 23 doi: 10.1007/s00247-010-1863-8. PMID: 20972673
Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Dias C, Cairns R, Patel MS
Clin Dysmorphol 2009 Jan;18(1):25-29. doi: 10.1097/MCD.0b013e3283186907. PMID: 19050401
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.
Giedion A
Pediatr Radiol 1998 Oct;28(10):751-8. doi: 10.1007/s002470050460. PMID: 9799296
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism).
Poznanski AK, Iannaccone G, Pasquino AM, Boscherini B
Pediatr Radiol 1983;13(1):19-24. doi: 10.1007/BF00975661. PMID: 6682547

Prognosis

Long term follow-up of composite non-vascularized toe phalanx transfers for aphalangia.
Tonkin MA, Deva AK, Filan SL
J Hand Surg Br 2005 Oct;30(5):452-8. doi: 10.1016/j.jhsb.2005.06.001. PMID: 16029918
Preossified longitudinal epiphyseal bracket of the foot: treatment by partial bracket excision before ossification.
Shea KG, Mubarak SJ, Alamin T
J Pediatr Orthop 2001 May-Jun;21(3):360-5. PMID: 11371821

Clinical prediction guides

Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T
Cleft Palate Craniofac J 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2. PMID: 11681999
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.
Giedion A
Pediatr Radiol 1998 Oct;28(10):751-8. doi: 10.1007/s002470050460. PMID: 9799296

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