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Peripheral dysostosis

MedGen UID:
1648357
Concept ID:
C4721502
Disease or Syndrome
Synonym: Peripheral Dysostosis
SNOMED CT: Peripheral dysostosis (773985008)
 
Monarch Initiative: MONDO:0008227
OMIM®: 170700
Orphanet: ORPHA1795

Definition

A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980. [from SNOMEDCT_US]

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Osteoarthritis, hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeripheral dysostosis

Professional guidelines

PubMed

Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B
Am J Med Genet A 2021 Jul;185(7):2108-2118. Epub 2021 Apr 28 doi: 10.1002/ajmg.a.62236. PMID: 33908178
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Horm Res Paediatr 2020;93(3):182-196. Epub 2020 Aug 5 doi: 10.1159/000508985. PMID: 32756064Free PMC Article
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Recent clinical studies

Etiology

Hernández RM, Miranda A, Kofman-Alfaro S
Clin Genet 1991 May;39(5):376-82. doi: 10.1111/j.1399-0004.1991.tb03045.x. PMID: 1860254
Giedion A
Clin Orthop Relat Res 1976 Jan-Feb;(114):107-15. PMID: 1261107

Diagnosis

Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F
Hormones (Athens) 2013 Apr-Jun;12(2):309-11. doi: 10.14310/horm.2002.1416. PMID: 23933701
Sezer N, Sutbeyaz ST, Koseoglu F, Aras M, Akin C
J Back Musculoskelet Rehabil 2009;22(2):125-9. doi: 10.3233/BMR-2009-0223. PMID: 20023341
Sheela SR, Perti A, Thomas G
Indian Pediatr 2005 Aug;42(8):822-6. PMID: 16141486
Ablow RC, Hsia YE, Brandt IK
AJR Am J Roentgenol 1977 Jan;128(1):95-9. doi: 10.2214/ajr.128.1.95. PMID: 188348
Singleton EB, Siggers DC
Birth Defects Orig Artic Ser 1974;10(12):510-12. PMID: 4461086

Therapy

Sezer N, Sutbeyaz ST, Koseoglu F, Aras M, Akin C
J Back Musculoskelet Rehabil 2009;22(2):125-9. doi: 10.3233/BMR-2009-0223. PMID: 20023341

Prognosis

Hernández RM, Miranda A, Kofman-Alfaro S
Clin Genet 1991 May;39(5):376-82. doi: 10.1111/j.1399-0004.1991.tb03045.x. PMID: 1860254

Clinical prediction guides

Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A
Am J Med Genet 1993 Oct 1;47(5):765-71. doi: 10.1002/ajmg.1320470534. PMID: 8267010
Hernández RM, Miranda A, Kofman-Alfaro S
Clin Genet 1991 May;39(5):376-82. doi: 10.1111/j.1399-0004.1991.tb03045.x. PMID: 1860254
Giedion A
Pediatr Radiol 1979 Feb 26;8(1):32-8. doi: 10.1007/BF00973675. PMID: 431989
Giedion A
Clin Orthop Relat Res 1976 Jan-Feb;(114):107-15. PMID: 1261107

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