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Metaphyseal striations

MedGen UID:
376512
Concept ID:
C1849081
Finding
Synonym: Metaphyseal striation
 
HPO: HP:0031367

Definition

Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). [from HPO]

Conditions with this feature

Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Metaphyseal dysplasia without hypotrichosis
MedGen UID:
320444
Concept ID:
C1834821
Disease or Syndrome
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Lipodystrophy-intellectual disability-deafness syndrome
MedGen UID:
334166
Concept ID:
C1842465
Disease or Syndrome
Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Diaphyseal medullary stenosis-bone malignancy syndrome
MedGen UID:
350613
Concept ID:
C1862177
Disease or Syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).
Spondyloepimetaphyseal dysplasia, Genevieve type
MedGen UID:
355314
Concept ID:
C1864872
Disease or Syndrome
Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
MedGen UID:
767490
Concept ID:
C3554576
Disease or Syndrome
FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012).
Liberfarb syndrome
MedGen UID:
1709796
Concept ID:
C5394404
Disease or Syndrome
Liberfarb syndrome is a progressive disorder involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. Eye findings are consistent with early-onset retinal degeneration, and there is moderate to severe early-onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficits (Peter et al., 2019). Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome (Girisha et al., 2019; Zhao et al., 2019).

Professional guidelines

PubMed

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS
Am J Med Genet A 2011 Nov;155A(11):2669-80. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34246. PMID: 21965141

Recent clinical studies

Etiology

Scrimshaw L, Gorman K, Mansour S, Ganesan V, Sabir A
Clin Dysmorphol 2024 Jan 1;33(1):31-37. Epub 2023 Nov 29 doi: 10.1097/MCD.0000000000000479. PMID: 38037992
Miyazaki O, Nishimura G, Okamoto R, Masaki H, Kumagai M, Shioda Y, Nozawa K, Kitoh H
Pediatr Radiol 2009 Jan;39(1):23-9. Epub 2008 Oct 25 doi: 10.1007/s00247-008-1033-4. PMID: 18953533

Diagnosis

Serra G, Antona V, Di Pace MR, Giuffrè M, Morgante G, Piro E, Pirrello R, Salerno S, Schierz IAM, Verde V, Corsello G
Ital J Pediatr 2022 Dec 29;48(1):206. doi: 10.1186/s13052-022-01403-6. PMID: 36581928Free PMC Article
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B
Am J Hum Genet 2019 Mar 7;104(3):422-438. Epub 2019 Feb 14 doi: 10.1016/j.ajhg.2019.01.007. PMID: 30773277Free PMC Article
Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP
Am J Med Genet A 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. PMID: 22043478
Miyazaki O, Nishimura G, Okamoto R, Masaki H, Kumagai M, Shioda Y, Nozawa K, Kitoh H
Pediatr Radiol 2009 Jan;39(1):23-9. Epub 2008 Oct 25 doi: 10.1007/s00247-008-1033-4. PMID: 18953533

Therapy

Miyazaki O, Nishimura G, Okamoto R, Masaki H, Kumagai M, Shioda Y, Nozawa K, Kitoh H
Pediatr Radiol 2009 Jan;39(1):23-9. Epub 2008 Oct 25 doi: 10.1007/s00247-008-1033-4. PMID: 18953533

Clinical prediction guides

Abu-El-Haija A, Dillahunt K, Safina N, Aldeeri A, Glavan T, Mihalek I, Shinawi M
Am J Med Genet A 2024 Oct;194(10):e63709. Epub 2024 May 27 doi: 10.1002/ajmg.a.63709. PMID: 38801192
Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949
Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R
Am J Med Genet A 2012 Nov;158A(11):2946-52. Epub 2012 Sep 17 doi: 10.1002/ajmg.a.35619. PMID: 22987541
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP
Am J Med Genet A 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. PMID: 22043478

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