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Thin metacarpal cortices

MedGen UID:
376718
Concept ID:
C1850160
Finding
Synonym: Thin cortex of metacarpals
 
HPO: HP:0006086

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThin metacarpal cortices

Conditions with this feature

Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Osteogenesis imperfecta type 17
MedGen UID:
903845
Concept ID:
C4225301
Disease or Syndrome
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

Recent clinical studies

Etiology

Yalcinkaya M, Akman YE, Bagatur AE
Orthopedics 2015 Jul 1;38(7):e647-50. doi: 10.3928/01477447-20150701-92. PMID: 26186330
Svedström E, Parto K, Marttinen M, Virtama P, Simell O
Skeletal Radiol 1993;22(1):11-6. doi: 10.1007/BF00191519. PMID: 8430340

Diagnosis

Horan MA, Puxty JA, Fox RA
J Am Geriatr Soc 1982 Dec;30(12):734-7. doi: 10.1111/j.1532-5415.1982.tb03362.x. PMID: 7142618

Therapy

Kim E, Miyake J, Kataoka T, Oka K, Moritomo H, Murase T
J Hand Surg Am 2012 Nov;37(11):2294-9. Epub 2012 Oct 4 doi: 10.1016/j.jhsa.2012.08.006. PMID: 23040642
Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D
J Bone Miner Res 2008 Oct;23(10):1698-707. doi: 10.1359/jbmr.080511. PMID: 18505375

Prognosis

Yalcinkaya M, Akman YE, Bagatur AE
Orthopedics 2015 Jul 1;38(7):e647-50. doi: 10.3928/01477447-20150701-92. PMID: 26186330
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI
Am J Med Genet A 2008 Oct 1;146A(19):2557-65. doi: 10.1002/ajmg.a.32393. PMID: 18792985
Brodie SG, Lachman RS, Jewell AF, Winkler CL, Nolasco L, Wilcox WR
Am J Med Genet 1998 Dec 4;80(4):423-8. doi: 10.1002/(sici)1096-8628(19981204)80:4<423::aid-ajmg23>3.0.co;2-n. PMID: 9856576
Svedström E, Parto K, Marttinen M, Virtama P, Simell O
Skeletal Radiol 1993;22(1):11-6. doi: 10.1007/BF00191519. PMID: 8430340

Clinical prediction guides

Kim E, Miyake J, Kataoka T, Oka K, Moritomo H, Murase T
J Hand Surg Am 2012 Nov;37(11):2294-9. Epub 2012 Oct 4 doi: 10.1016/j.jhsa.2012.08.006. PMID: 23040642
Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D
J Bone Miner Res 2008 Oct;23(10):1698-707. doi: 10.1359/jbmr.080511. PMID: 18505375

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