DISPLASIA EPIFISARIA MULTIPLE PDF

Disease definition. Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips. se diagnosticó una displasia epifisaria con falanges en forma de ángel. A raíz de este . la displasia epifisaria múltiple, enfermedad que afecta el crecimiento y. displasias epifisarias múltiples is the plural of displasia epifisaria múltiple Translate “displasia epifisaria múltiple” to English: multiple.

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University of Washington, Seattle; January 8, ; Last Update: 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.

The diagnosis of autosomal dominant MED is based on clinical and radiographic findings. Obesity; exercise causing repetitive strain on affected joints. Many individuals with autosomal dominant MED have inherited the pathogenic variant from a parent. The prevalence of de novo pathogenic variants is not known.

Prenatal diagnosis of pregnancies at increased risk is possible if the pathogenic variant has been identified in an affected family member. Autosomal dominant multiple epiphyseal dysplasia MED should be suspected in individuals with the following clinical and radiographic findings:.

The diagnosis of autosomal dominant MED is established in a proband with the above clinical and radiographic findings. Identification of a heterozygous pathogenic variant in one of the genes listed in Table 1 establishes the diagnosis if clinical and radiographic features are inconclusive. Molecular testing approaches can include serial single- gene testinguse of a multigene paneland genomic testing.

View in own window. Genes and Databases for chromosome locus and protein. In individuals with autosomal dominant MED in which a pathogenic variant in one of the five confirmed genes has been identified.

However, the relative proportions are different depending on ethnicity. In contrast, a recent study of a Korean cohort identified pathogenic variants in 55 individuals as follows: This is in close agreement with a Japanese study that identified pathogenic variants in 19 individuals with MED: The high prevalence of MATN3 pathogenic variants in these latter populations is believed to be the result of a common founder variant p.

ArgTrpbut this variant is also common in European populations.

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None of the three studies identified pathogenic variants in COL9A1. See Molecular Genetics visplasia information on allelic variants detected in this gene. Sequence analysis detects variants that are benign, likely benign, of uncertain significancelikely pathogenic, or pathogenic. For issues to consider in interpretation of sequence analysis results, click here. Methods that may be used can include: All pathogenic variants identified cluster in the splice donor site of exon 3.

Orphanet: Displasia epifisaria multipla tipo 4

In some families genetic linkage studies have excluded linkage to the five genes in which pathogenic variants are known to be causal; however, additional genetic loci for MED have not yet been determined.

Autosomal dominant multiple epiphyseal dysplasia MED was originally divided into a mild form called “Ribbing-type” and a more severe form known as “Fairbank-type.

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It is likely that the milder forms of MED mulriple remain undiagnosed jultiple are misdiagnosed as bilateral Perthes disease or even early-onset familial osteoarthritis. Angular deformities, including coxa vara and genu varum or genu valgum, are relatively rare.

In contrast to the restricted mobility in the elbows, hypermobility in the knee and finger joints can be observed. The shortness of the limbs relative to the trunk first becomes apparent in childhood. The natural history of autosomal dominant Epifksaria is of progressively worsening pain and joint deformity resulting in early-onset osteoarthritis. In adulthood, the condition is characterized by early-onset osteoarthritis, particularly of the large weight-bearing joints.

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In some individuals, the osteoarthritis is sufficiently severe to require joint replacement in early adult life. No other anomalies are associated with autosomal dominant MED.

Preliminary studies of genotype-phenotype correlations have been relatively successful and can be summarized briefly [ Mortier et alUnger et al ]:. These findings make the establishment of strong genotype-phenotype correlations in autosomal dominant MED a challenge. MED-Fairbank type is probably the same disease as “enchondral dysostosis” described by Odman []and “microepiphyseal dysplasia” described by Elsbach [].

Studies undertaken to determine the birth prevalence of skeletal dysplasias suggest a prevalence of autosomal dominant MED of at least one per 10, births. However, as MED is usually not diagnosed at birth, the figure is most likely an underestimate. Pseudoachondroplasia shares clinical and radiographic abnormalities with autosomal dominant MED.

However, individuals with pseudoachondroplasia have short-limb dwarfism with spondyloepimetaphyseal involvement on radiographs. Unlike MED, pseudoachondroplasia is not known to be genetically heterogeneous and appears to result exclusively from pathogenic variants in COMP.

Inheritance is autosomal dominant. Pseudoachondroplasia was originally defined as a condition resembling achondroplasia but with normal craniofacial features. At birth, body length is usually normal. Joint pain is common beginning in childhood particularly in the large joints of the lower extremities.

Adult height ranges from to cm. Orthopedic complications are common. Affected individuals exhibit generalized ligamentous laxity, most pronounced in the fingers and knees. Laxity at the knees contributes significantly to leg deformities, including genu varum or genu valgum. Ligamentous laxity with odontoid hypoplasia can result in cervical spine instability. Degenerative joint disease is progressive.

The radiographic manifestations involve the spine and epimetaphyseal regions of the tubular bones. Characteristic findings are the tongue-like projections on the anterior borders of the vertebral bodies on lateral views mulltiple the spinesmall proximal femoral epiphyses “mini-epiphyses”irregularly shaped carpal and tarsal bones, and short tubular bones with small and fragmented epiphyses and metaphyseal irregularities.

Borochowitz et al [] described a consanguineous family with an autosomal recessive form of spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate short stature, severe bowing of the lower limbs, and lumbar lordosis. All affected members of this family were homozygous multiplle a p. Previous studies have demonstrated that p. CysSer causes the intracellular retention of epifisariz matrilin-3 [ Otten et al ], suggesting that this is a key disease mechanism and is therefore another example of an ER stress-related xisplasia disease [ Briggs et al ].

Homozygosity for a MATN3 variant p.

epifisaria

Hand osteoarthritis and spinal disc degeneration OMIM Follow-up studies have supported an association between MATN3 polymorphisms and osteoarthritis mulitple the Chinese Han population [ Gu et al ], and with vertebral fracture in Chinese postmenopausal women [ Zhao et al ]. Studies have shown that the p. ThrMet variant allows the epifiisaria of matrilin-3 [ Otten et al ], does not affect collagen affinity, but can promote the formation of wider collagen fibrils in cartilage [ Otten et al ].

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Three other disorders have features that overlap with those of autosomal dominant multiple epiphyseal dysplasia MED. 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 to cm.

Functional disability is mild. Of particular note is displassia patella i. Epiflsaria finding appears to be age related and may not be apparent in adults. Diagnosis can be confirmed by molecular genetic testing of SLC26A2. LCPD usually affects males between ages three and 15 years.

Some forms of LCPD have been shown epifisariq result from a recurrent p. GlySer [ Kannu et al ] and p. Mild spondyloepiphyseal dysplasia congenita SEDc. Both variants were in exon 50 and resulted in p. There were limited clinical data and radiographic images on which to make an unambiguous diagnosis; however, both individuals had phenotypic features consistent with MED.

To establish the extent of disease and needs in an individual diagnosed with multiple epiphyseal dysplasia MEDthe following evaluations are recommended:. For pain control, a combination of analgesics and physiotherapy including hydrotherapy is helpful to many affected individuals; however, pain can be difficult to control.

Referral to a rheumatologist or pain specialist may be umltiple. Limitation of joint destruction and the development of osteoarthritis is a goal.

In some individuals, total joint arthroplasty may be required if the degenerative hip changes are causing too much pain or dysfunction. Psychosocial support addressing issues of short stature, chronic pain, disability, and employment is appropriate.

Evaluation by an orthopedic surgeon is recommended if the affected individual has chronic pain or limb deformities genu varum, genu valgum. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. There may not be clinical trials for this disorder. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members.

This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. Dominant multiple epiphyseal dysplasia MED is inherited in an autosomal dominant manner. Offspring of a proband. MED of unknown mode of inheritance. Testing of asymptomatic at-risk individuals younger than age 18 years is controversial.