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Premature fusion of phalangeal epiphyses

MedGen UID:
344537
•Concept ID:
C1855620
•
Finding
Synonym: Premature fusion of end part of digital bone
 
HPO: HP:0006140

Definition

Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPremature fusion of phalangeal epiphyses

Conditions with this feature

Keutel syndrome
MedGen UID:
383722
•Concept ID:
C1855607
•
Disease or Syndrome
Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
See: Condition Record
Keutel syndrome

Recent clinical studies

Etiology

Physiolysis for correction of clinodactyly with delta phalanx: Early improvement.
El Sayed L, Salon A, Glorion C, Guero S
Hand Surg Rehabil 2019 Apr;38(2):125-128. Epub 2019 Feb 16 doi: 10.1016/j.hansur.2018.12.002. PMID: 30782503
Pediatric Frostbite Treated by Negative Pressure Wound Therapy.
Poulakidas SJ, Kowal-Vern A, Atty C
J Burn Care Res 2016 Sep-Oct;37(5):e489-92. doi: 10.1097/BCR.0000000000000284. PMID: 26284629
Radiological anthropometry of the hand in Turner's syndrome.
Park E
Am J Phys Anthropol 1977 May;46(3):463-70. doi: 10.1002/ajpa.1330460312. PMID: 193404
Hypophosphatasia. Review of 24 cases.
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecka W
Pediatr Radiol 1976 Dec 15;5(2):103-17. doi: 10.1007/BF00975316. PMID: 1012798

Diagnosis

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
Thiemann's disease.
Gewanter H, Baum J
J Rheumatol 1985 Feb;12(1):150-3. PMID: 3981502
Hypophosphatasia. Review of 24 cases.
Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, Rheinwein H, Thomas PS, Uniecka W
Pediatr Radiol 1976 Dec 15;5(2):103-17. doi: 10.1007/BF00975316. PMID: 1012798

Prognosis

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

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
Radiological anthropometry of the hand in Turner's syndrome.
Park E
Am J Phys Anthropol 1977 May;46(3):463-70. doi: 10.1002/ajpa.1330460312. PMID: 193404

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