Multiple epiphyseal dysplasia

Classification according to ICD-10
Q78.8	Other specified osteochondrodysplasias
Q77.3	Chondrodysplasia punctate syndromes
ICD-10 online (WHO version 2019)

The multiple epiphyseal dysplasia refers to a heterogeneous group of rare congenital diseases with the advantages common abnormalities of the epiphysis with an early stage of developing osteoarthritis and joint pain .

Synonyms are Polyepiphyseal Dysplasia , Latin Dysplasia epiphysaria multiplex , Dysostosis epiphysaria , English Epiphyseal Dysplasia, Multiple ( EDM )

The disease is described here in humans , but it also occurs in dogs .

distribution

The frequency is given as about 1 in 20,000, inheritance is autosomal - recessive or autosomal dominant .

classification

Depending on the genetic change found, the following classification can be made:

• EDM1, Multiple epiphyseal dysplasia, type 1 , autosomal dominant, mutations in the COMP - gene on locus 19p13.11
• EDM2, dysplasia, epiphyseal multiple, type 2 , autosomal dominant, mutations in the COL9A2 gene at location 1p34.2
• EDM3, dysplasia, epiphyseal multiple, type 3 , autosomal dominant, mutations in the COL9A3 gene at location 20q13.33
• EDM4, dysplasia, epiphyseal multiple, type 4 , autosomal recessive, mutations in the DTDST gene at location 5q32
• EDM5, dysplasia, epiphyseal multiple, type 5 , autosomal dominant, mutations in the MATN3 gene at location 2p24.1
• EDM6, dysplasia, epiphyseal multiple, type 6 , mutations in the COL9A1 gene at location 6q13

There are also diseases with additional significant changes with their own name:

• Dysplasia, epiphyseal multiple, Al-Gazali type , EMD with macrocephaly and characteristic facial expression
• Dysplasia, epiphyseal multiple, Beighton type , EMD with myopia and hearing loss
• Dysplasia, epiphyseal multiple, Lowry type , EMD with Robin phenotype
• Dysplasia, epiphyseal multiple, with mini-epiphyses
• Dysplasia, epiphyseal multiple, with pseudoachondroplasia
• Dysplasia, epiphyseal multiple, with severe proximal femoral dysplasia
• Wolcott-Rallison syndrome , EMD with early onset diabetes mellitus

Clinical classification

According to the clinical abnormalities, it is a developmental disorder of the growth plates and affects the bone formation that takes place there ( enchondral ossification ), especially on the femur . The expression is variable, so that three clinical forms can be distinguished:

Heavy form according to Fairbanks

with late appearance of the ossification nuclei of most epiphyses, clumsy fingers and toes, moderately short stature . Clinically, the diagnosis is only made in infancy. The name goes back to the London orthopedist Harold AT Fairbanks (1876–1961) with a case description in 1935.

Mild form after ribbing

with minimal involvement of the fingers and toes, mostly only femoral head affected. The name goes back to the first description in 1937 by the Swedish radiologist Seved Ribbing .

Localized mild form according to Meyer

with exclusive involvement of the femoral heads (dysplasia epiphysealis capitis femoris), Meyer's dysplasia

treatment

Treatment today consists mainly of physiotherapy and orthopedic measures. Hip replacements are often required, but at different ages.

literature

• Friedrich Böttner: Specialist compendium for orthopedics and trauma surgery. Everything you need to know for the new specialist . OrthoForum publishing house, Hamburg 2005, ISBN 3-9810103-0-2 .
• S. Anthony, R. Munk, W. Skakun, M. Masini: Multiple Epiphyseal Dysplasia. In: Journal of the American Academy of Orthopedic Surgeons . Vol. 23, No. 3, March 2015, ISSN  1067-151X , pp. 164-172, doi: 10.5435 / JAAOS-D-13-00173 , PMID 25667404 .
• H. Brunzlow, D. Loreck, K. Trzenschik: Multiple Epiphyseal Dysplasia. In: Radiologia diagnostica. Vol. 29, No. 4, 1988, ISSN  0033-8354 , pp. 571-580, PMID 3174957 .

Individual evidence

1. ↑ ^{a b} Multiple epiphyseal dysplasia. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
3. ^ A. Fischer, J. Verschoof, M. Kramer: [Multiple epiphyseal dysplasia in a Jack Russell Terrier]. In: Veterinary practice small animals . Vol. 39, No. 2, 2011, ISSN  1434-1239 , pp. 105-109, PMID 22143588 .
4. ↑ EDM1.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ Dysplasia, epiphyseal multiple, type 1. In: Orphanet (database for rare diseases).
6. ↑ EDM2.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ EDM3.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ EDM4.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ Dysplasia, epiphyseal multiple, type 4. In: Orphanet (database for rare diseases).
10. ↑ EDM5.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ Dysplasia, epiphyseal multiple, type 5. In: Orphanet (database for rare diseases).
12. ↑ EDM6.  In: Online Mendelian Inheritance in Man . (English)
13. ↑ Dysplasia, epiphyseal multiple, type 6. In: Orphanet (database for rare diseases).
14. ↑ MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES.  In: Online Mendelian Inheritance in Man . (English)
15. ↑ Dysplasia, epiphyseal multiple, type Al-Gazali. In: Orphanet (Rare Disease Database).
16. ↑ EDMMD.  In: Online Mendelian Inheritance in Man . (English)
17. ↑ Dysplasia, epiphyseal multiple, Beighton type. In: Orphanet (Rare Disease Database).
18. ↑ MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE.  In: Online Mendelian Inheritance in Man . (English)
19. ↑ Dysplasia, epiphyseal multiple, Lowry type. In: Orphanet (Rare Disease Database).
20. ↑ EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES.  In: Online Mendelian Inheritance in Man . (English)
21. ↑ Dysplasia, epiphyseal multiple, with mini-epiphyses. In: Orphanet (Rare Disease Database).
22. ↑ Dysplasia, epiphyseal multiple, with pseudoachondroplasia. In: Orphanet (Rare Disease Database).
23. ↑ EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA.  In: Online Mendelian Inheritance in Man . (English)
24. ↑ Dysplasia, epiphyseal multiple, with severe proximal femoral dysplasia. In: Orphanet (Rare Disease Database).
25. ↑ EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS.  In: Online Mendelian Inheritance in Man . (English)
26. ↑ Wolcott-Rallison Syndrome. In: Orphanet (Rare Disease Database).
27. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X .
28. ↑ HAT Fairbanks: Generalized Disease of the Skeleton. In: Proceedings of the Royal Society of Medicine , 1935, Vol. 28, pp. 1611-1619
29. ^ S. Ribbing: Studies on Hereditary Multiple Epiphyseal Disorders. In: Acta radiologica (Stockholm) Suppl. Vol. 34. pp. 1-107

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !