U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Multiple epiphyseal dysplasia

MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
Synonym: Multiple epiphyseal dysplasia (disease)
SNOMED CT: Fairbanks-Ribbing type epiphyseal dysplasia (59708000); MED - Multiple epiphyseal dysplasia (59708000); Multiple epiphyseal dysplasia (59708000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0002654
Monarch Initiative: MONDO:0016648
OMIM® Phenotypic series: PS132400
Orphanet: ORPHA251

Definition

A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features. [from ORDO]

Conditions with this feature

Phytanic acid storage disease
MedGen UID:
11161
Concept ID:
C0034960
Disease or Syndrome
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
Wolcott-Rallison dysplasia
MedGen UID:
140926
Concept ID:
C0432217
Disease or Syndrome
Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).
Lowry-Wood syndrome
MedGen UID:
162899
Concept ID:
C0796021
Disease or Syndrome
Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients (Farach et al., 2018; Shelihan et al., 2018). Microcephalic osteodysplastic primordial dwarfism type I (MOPD1; 210710) and Roifman syndrome (RFMN; 616651), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene.
Multiple epiphyseal dysplasia, Al-Gazali type
MedGen UID:
335505
Concept ID:
C1846722
Disease or Syndrome
Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by Ali et al., 2012).
Multiple epiphyseal dysplasia type 5
MedGen UID:
335542
Concept ID:
C1846843
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Multiple epiphyseal dysplasia type 4
MedGen UID:
376164
Concept ID:
C1847593
Disease or Syndrome
Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild.
Epiphyseal dysplasia, multiple, 6
MedGen UID:
436517
Concept ID:
C2675767
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.

Professional guidelines

PubMed

Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O
Eur J Med Genet 2019 Nov;62(11):103573. Epub 2018 Nov 10 doi: 10.1016/j.ejmg.2018.11.007. PMID: 30423444
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978
Briggs MD, Chapman KL
Hum Mutat 2002 May;19(5):465-78. doi: 10.1002/humu.10066. PMID: 11968079

Recent clinical studies

Etiology

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
Vanlommel J, Vanlommel L, Molenaers B, Simon JP
Orthop Traumatol Surg Res 2018 May;104(3):301-305. Epub 2017 Dec 21 doi: 10.1016/j.otsr.2017.11.014. PMID: 29274861
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH
Acta Orthop 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. PMID: 19995321Free PMC Article
Lachman RS, Krakow D, Cohn DH, Rimoin DL
Pediatr Radiol 2005 Feb;35(2):116-23. Epub 2004 Oct 21 doi: 10.1007/s00247-004-1323-4. PMID: 15503005
Olsen BR
Int J Biochem Cell Biol 1997 Apr;29(4):555-8. doi: 10.1016/s1357-2725(96)00100-8. PMID: 9363632

Diagnosis

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
Anthony S, Munk R, Skakun W, Masini M
J Am Acad Orthop Surg 2015 Mar;23(3):164-72. Epub 2015 Feb 9 doi: 10.5435/JAAOS-D-13-00173. PMID: 25667404
Juneja A, Sultan A, Bhatnagar S
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. PMID: 23263430
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH
Acta Orthop 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. PMID: 19995321Free PMC Article
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978

Therapy

Chang YY, Lee CC, Lin SC, Kuo KN, Chang JF, Wu KW, Wang TM
Orphanet J Rare Dis 2023 Oct 30;18(1):340. doi: 10.1186/s13023-023-02920-1. PMID: 37904148Free PMC Article
Nakamura T, Wada A, Yamaguchi R, Iwamoto M, Takamura K, Yanagida H, Yamaguchi T, Ishikawa C
Clin Orthop Relat Res 2023 Apr 1;481(4):808-819. Epub 2022 Nov 6 doi: 10.1097/CORR.0000000000002450. PMID: 36374570Free PMC Article
Yang J, Serino J, Olsen AS, Berger RA, Della Valle CJ
Knee 2021 Jun;30:106-112. Epub 2021 Apr 20 doi: 10.1016/j.knee.2021.03.019. PMID: 33887621
Raggio CL, Yonko EA, Khan SI, Carter EM, Citron KP, Bostrom MPG, Figgie MP
J Arthroplasty 2020 Aug;35(8):1993-2001. Epub 2020 Apr 9 doi: 10.1016/j.arth.2020.04.007. PMID: 32386881
Patel H, Cichos KH, Moon AS, McGwin G Jr, Ponce BA, Ghanem ES
Orthop Traumatol Surg Res 2019 Nov;105(7):1297-1301. Epub 2019 Sep 18 doi: 10.1016/j.otsr.2019.06.013. PMID: 31542311

Prognosis

Posey KL, Coustry F, Hecht JT
Matrix Biol 2018 Oct;71-72:161-173. Epub 2018 Mar 9 doi: 10.1016/j.matbio.2018.02.023. PMID: 29530484Free PMC Article
Vanlommel J, Vanlommel L, Molenaers B, Simon JP
Orthop Traumatol Surg Res 2018 May;104(3):301-305. Epub 2017 Dec 21 doi: 10.1016/j.otsr.2017.11.014. PMID: 29274861
Park KW, Kim JH, Sung S, Lee MY, Song HR
J Pediatr Orthop 2014 Oct-Nov;34(7):738-42. doi: 10.1097/BPO.0000000000000172. PMID: 25210941
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978
Lachman RS, Krakow D, Cohn DH, Rimoin DL
Pediatr Radiol 2005 Feb;35(2):116-23. Epub 2004 Oct 21 doi: 10.1007/s00247-004-1323-4. PMID: 15503005

Clinical prediction guides

Li S, Sheng Y, Wang X, Wang Q, Wang Y, Zhang Y, Wu C, Jiang X
Orphanet J Rare Dis 2024 Jul 2;19(1):245. doi: 10.1186/s13023-024-03228-4. PMID: 38956600Free PMC Article
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
Liang H, Hou Y, Pang Q, Jiang Y, Wang O, Li M, Xing X, Zhu H, Xia W
Calcif Tissue Int 2022 Mar;110(3):313-323. Epub 2021 Oct 28 doi: 10.1007/s00223-021-00920-6. PMID: 34709441
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Vanlommel J, Vanlommel L, Molenaers B, Simon JP
Orthop Traumatol Surg Res 2018 May;104(3):301-305. Epub 2017 Dec 21 doi: 10.1016/j.otsr.2017.11.014. PMID: 29274861

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...