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Multiple epiphyseal dysplasia type 1(EDM1)

MedGen UID:
325376
•Concept ID:
C1838280
•
Disease or Syndrome
Synonym: COMP-Related Multiple Epiphyseal Dysplasia
SNOMED CT: Multiple epiphyseal dysplasia type 1 (715673002); Polyepiphyseal dysplasia type 1 (715673002)
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): COMP (19p13.11)
 
Monarch Initiative: MONDO:0007561
OMIM®: 132400
Orphanet: ORPHA93308

Disease characteristics

Excerpted from the GeneReview: Multiple Epiphyseal Dysplasia, Autosomal Dominant
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Michael D Briggs  |  Michael J Wright  |  Geert R Mortier   view full author information

Additional descriptions

From OMIM
Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). Genetic Heterogeneity of Multiple Epiphyseal Dysplasia Multiple epiphyseal dysplasia is a genetically heterogeneous disorder. See also EDM2 (600204), caused by mutation in the COL9A2 gene (120260); EDM3 (600969), caused by mutation in the COL9A3 gene (120270); EDM4 (226900), caused by mutation in the DTDST gene (606718); EDM5 (607078), caused by mutation in the MATN3 gene (602109); EDM6 (614135), caused by mutation in the COL9A1 gene (120210); and EDM7 (617719), caused by mutation in the CANT1 gene (613165).  http://www.omim.org/entry/132400
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia

Clinical features

From HPO
Ankle pain
MedGen UID:
116068
•Concept ID:
C0238656
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
See: Feature record | Search on this feature
Pes planus
MedGen UID:
42034
•Concept ID:
C0016202
•
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
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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.
See: Feature record | Search on this feature
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
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Disproportionate short-limb short stature
MedGen UID:
342370
•Concept ID:
C1849937
•
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
See: Feature record | Search on this feature
Mild short stature
MedGen UID:
461427
•Concept ID:
C3150077
•
Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
See: Feature record | Search on this feature
Waddling gait
MedGen UID:
66667
•Concept ID:
C0231712
•
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
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Legg-Calve-Perthes disease
MedGen UID:
6035
•Concept ID:
C0023234
•
Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
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Osteoarthritis, hip
MedGen UID:
14530
•Concept ID:
C0029410
•
Disease or Syndrome
Osteoarthritis of the hip joint.
See: Feature record | Search on this feature
Joint stiffness
MedGen UID:
56403
•Concept ID:
C0162298
•
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
See: Feature record | Search on this feature
Epiphyseal dysplasia
MedGen UID:
95932
•Concept ID:
C0392476
•
Congenital Abnormality
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Generalized joint hypermobility
MedGen UID:
322888
•Concept ID:
C1836308
•
Finding
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.
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Irregular vertebral endplates
MedGen UID:
331233
•Concept ID:
C1842153
•
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
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Irregular epiphyses
MedGen UID:
337584
•Concept ID:
C1846449
•
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
See: Feature record | Search on this feature
Small epiphyses
MedGen UID:
339612
•Concept ID:
C1846803
•
Finding
Reduction in the size or volume of epiphyses.
See: Feature record | Search on this feature
Limited hip movement
MedGen UID:
343601
•Concept ID:
C1851542
•
Finding
A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.
See: Feature record | Search on this feature
Ovoid vertebral bodies
MedGen UID:
344549
•Concept ID:
C1855665
•
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
See: Feature record | Search on this feature
Delayed epiphyseal ossification
MedGen UID:
351324
•Concept ID:
C1865200
•
Finding
See: Feature record | Search on this feature
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