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Small epiphyses of the phalanges of the hand

MedGen UID:
866949
Concept ID:
C4021305
Anatomical Abnormality
Synonyms: Small end part of finger bones; Small epiphyses of the fingers
 
HPO: HP:0010236

Definition

Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [from HPO]

Conditions with this feature

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

Professional guidelines

PubMed

Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

Recent clinical studies

Etiology

Armour CM, Bulman DE, Hunter AG
J Med Genet 2000 Apr;37(4):292-6. doi: 10.1136/jmg.37.4.292. PMID: 10745048Free PMC Article
Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

Diagnosis

Torre BA
Hand Clin 1988 Feb;4(1):113-21. PMID: 3277975
Poznanski AK, Iannaccone G, Pasquino AM, Boscherini B
Pediatr Radiol 1983;13(1):19-24. doi: 10.1007/BF00975661. PMID: 6682547

Prognosis

Sanders JO, Khoury JG, Kishan S, Browne RH, Mooney JF 3rd, Arnold KD, McConnell SJ, Bauman JA, Finegold DN
J Bone Joint Surg Am 2008 Mar;90(3):540-53. doi: 10.2106/JBJS.G.00004. PMID: 18310704

Clinical prediction guides

Sanders JO, Khoury JG, Kishan S, Browne RH, Mooney JF 3rd, Arnold KD, McConnell SJ, Bauman JA, Finegold DN
J Bone Joint Surg Am 2008 Mar;90(3):540-53. doi: 10.2106/JBJS.G.00004. PMID: 18310704
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

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