U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: Feature record | Search on this feature
Osteoarthritis, hip
MedGen UID:
14530
•Concept ID:
C0029410
•
Disease or Syndrome
Osteoarthritis of the hip joint.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

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

Professional guidelines

PubMed

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
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
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
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
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
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

Acrodysostosis in two generations: an autosomal dominant syndrome.
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
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease.
Giedion A
Clin Orthop Relat Res 1976 Jan-Feb;(114):107-15. PMID: 1261107

Diagnosis

Acrodysostosis associated with hypercalcemia.
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
Adult case of acrodysostosis with severe neurologic involvement.
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
Acrodysostosis: autosomal dominant transmission.
Sheela SR, Perti A, Thomas G
Indian Pediatr 2005 Aug;42(8):822-6. PMID: 16141486
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.
Butler MG, Rames LJ, Wadlington WB
Am J Med Genet 1988 Aug;30(4):971-80. doi: 10.1002/ajmg.1320300416. PMID: 3055990Free PMC Article
Peripheral dysostosis.
Singleton EB, Siggers DC
Birth Defects Orig Artic Ser 1974;10(12):510-12. PMID: 4461086

Therapy

Adult case of acrodysostosis with severe neurologic involvement.
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

Acrodysostosis in two generations: an autosomal dominant syndrome.
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

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
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
Acrodysostosis in two generations: an autosomal dominant syndrome.
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
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.
Giedion A
Pediatr Radiol 1979 Feb 26;8(1):32-8. doi: 10.1007/BF00973675. PMID: 431989
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease.
Giedion A
Clin Orthop Relat Res 1976 Jan-Feb;(114):107-15. PMID: 1261107

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...