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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.
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
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Term Hierarchy

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

Professional guidelines

PubMed

Evaluation of polysomnography findings in children with genetic skeletal disorders.
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177
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
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D
Clin Genet 2013 Dec;84(6):531-8. Epub 2013 Feb 21 doi: 10.1111/cge.12106. PMID: 23425300
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 coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.
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
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

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