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Multiple epiphyseal dysplasia type 5(EDM5)

MedGen UID:
335542
Concept ID:
C1846843
Disease or Syndrome
Synonyms: EDM5; Microepiphyseal dysplasia, bilateral hereditary; Multiple epiphyseal dysplasia, MATN3-related
SNOMED CT: Multiple epiphyseal dysplasia type 5 (715674008); Polyepiphyseal dysplasia type 5 (715674008)
Modes of inheritance:
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.
 
Gene (location): MATN3 (2p24.1)
 
Monarch Initiative: MONDO:0011765
OMIM®: 607078
Orphanet: ORPHA93311

Disease characteristics

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. [from GeneReviews]
Authors:
Michael D Briggs  |  Michael J Wright  |  Geert R Mortier   view full author information

Additional description

From MedlinePlus Genetics
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.

Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.  https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Hip pain
MedGen UID:
1643075
Concept ID:
C4551516
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Delayed ossification of carpal bones
MedGen UID:
374771
Concept ID:
C1841684
Finding
Ossification of carpal bones occurs later than age-adjusted norms.
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Arthralgia of the hip
MedGen UID:
5556
Concept ID:
C0019559
Sign or Symptom
Joint pain affecting the hip.
Multiple epiphyseal dysplasia
MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
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.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Premature osteoarthritis
MedGen UID:
371977
Concept ID:
C1835121
Disease or Syndrome
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Hypoplasia of the capital femoral epiphysis
MedGen UID:
374176
Concept ID:
C1839254
Finding
Underdevelopment of the proximal epiphysis of the femur.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Reduction in the size or volume of epiphyses.
Delayed tarsal ossification
MedGen UID:
339625
Concept ID:
C1846853
Finding
Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.

Professional guidelines

PubMed

Paton DM
Drugs Today (Barc) 2022 Sep;58(9):451-456. doi: 10.1358/dot.2022.58.9.3422313. PMID: 36102905
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P
Clin Genet 2016 Nov;90(5):393-402. Epub 2016 Jun 30 doi: 10.1111/cge.12812. PMID: 27272193

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