Spondyloepimetaphyseal dysplasia

Classification according to ICD-10
Q77.7	Dysplasia spondyloepiphysaria
Q77.8	Other osteochondrodysplasias with growth disorders of the long bones
ICD-10 online (WHO version 2019)

The Spondyloepimetaphysäre dysplasia ( SEMD ) comprising a group of rare or very rare to the chondrodysplasias counting skeletal dysplasias with changes in the vertebral body , the metaphysis and epiphysis of the long bones . The main characteristic is the disproportionate dwarfism .

Classification

The following list can be made according to the form of the proven or suspected inheritance:

autosomal - recessive :

• Dysplasia, anauxetic (dysplasia, spondyloepimetaphyseal, anauxetic type; dysplasia, spondyloepimetaphyseal, Menger type), mutations in the RMRP gene at locus 9p13.3
• SEMD type A4
• SEMD type aggrecan , mutations in the ACAN gene at locus 15q26.1
• SEMD type Irapa
• SEMD type Shohat
• SEMD axial shape
• SPONASTRIME dysplasia (dysplasia, spondyloepimetaphyseal, Sponastrime type)
• SEMD MATN3 gene-associated , mutations in the MATN3 gene at gene location 2p24-p23, which codes for a protein in the extracellular matrix

Autosomal dominant :

• SEMD type Handigodu (HANDIGODU JOINT DISEASE)
• SEMD type Missouri mutations in the MMP13 gene at 11q22.3
• SEMD type Strudwick , most common form with mutations in the COL2A1 gene at 12q13.11-q13.2

X-linked recessive:

• SEMD type Golden (dysplasia, spondyloepimetaphyseal, X-linked; Richmond type)
• SEMD X-linked form

Unknown inheritance:

• SEMD type Bieganski
• SEMD type Czarny-Ratajczak
• SEMD type Genevieve
• SEMD type Isidor

Syndromal forms

• SEMD with hypotrichosis
• SEMD with curved forearms and facial dysmorphism , autosomal recessive
• SEMD with impaired tooth development
• SEMD with short extremities and abnormal calcification , autosomal recessive, mutations in the DDR2 gene at 1q23.3
• SEMD-MD (dysplasia, spondyloepimetaphyseal, with multiple dislocations, leptodactyl type; dysplasia, spondyloepimetaphyseal, with multiple dislocations, leptodactyl type; SEMD-MD; SEMDJL2; spondyloepimetaphyseal type dysplasia of the dysplasia with multiple dislocations; hallucosal dysplasia with multiple dislocations; Spondyloepimetaphyseal dysplasia with hyperextension of the joints (Hall type), autosomal dominant, mutations in the KIF22 gene at 16p11.2
• SEMD-JL (spondyloepimetaphyseal dysplasia with hyperextension of the joints type 1; SEMD-JL; SEMDJL1) autosomal recessive, mutations in the B3GALT6 gene at 1p36.33

distribution

The frequency is given as less than 1 in 1,000,000.

Clinical manifestations

Common to all forms is the disproportionate short stature with a short trunk and shortened extremities .

diagnosis

The diagnosis is based on changes in the X-ray image ; confirmation can be made genetically if the mutation is known.

In these cases, prenatal diagnosis is also possible.

literature

• R. Amirfeyz, A. Taylor, SF Smithson, MF Gargan: Orthopedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. In: Journal of pediatric orthopedics. Part B. Vol. 15, No. 1, January 2006, pp. 41-44, PMID 16280719 .

Individual evidence

1. ↑ Spondyloepiphyseal and spondyloepimetaphyseal dysplasia. In: Orphanet (Rare Disease Database).
2. ↑ 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. ↑ Anauxetic dysplasia.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ Dysplasia, anauxetic. In: Orphanet (Rare Disease Database).
5. ↑ Dysplasia, spondyloepimetaphyseal, type A4. In: Orphanet (Rare Disease Database).
6. ↑ Spondyloepimetaphyseal dysplasia, aggrecan type.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ Dysplasia, spondyloepimetaphyseal, aggrecan type. In: Orphanet (Rare Disease Database).
8. ↑ Dysplasia, spondyloepimetaphyseal, Irapa type. In: Orphanet (Rare Disease Database).
9. ↑ Dysplasia, spondyloepimetaphyseal, Shohat type. In: Orphanet (Rare Disease Database).
10. ↑ Dysplasia, spondyloepimetaphyseal, axial form. In: Orphanet (Rare Disease Database).
11. ↑ SPONASTRIME dysplasia. In: Orphanet (Rare Disease Database).
12. ↑ Spondyloepimetaphyseal dysplasia, Matrilin-3 related.  In: Online Mendelian Inheritance in Man . (English)
13. ↑ Spondyloepimetaphyseal dysplasia, MATN3 gene-associated. In: Orphanet (Rare Disease Database).
14. ↑ Dysplasia, spondyloepimetaphyseal, Handigodu type. In: Orphanet (Rare Disease Database).
15. ↑ Dysplasia, spondyloepimetaphyseal, Missouri type. In: Orphanet (Rare Disease Database).
16. ↑ Dysplasia, spondyloepimetaphyseal, Strudwick type. In: Orphanet (Rare Disease Database).
17. ↑ SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED.  In: Online Mendelian Inheritance in Man . (English)
18. ↑ Dysplasia, spondyloepimetaphyseal, Golden type. In: Orphanet (Rare Disease Database).
19. ↑ Dysplasia, spondyloepimetaphyseal, X-linked. In: Orphanet (Rare Disease Database).
20. ↑ Dysplasia, spondyloepimetaphyseal, Bieganski type. In: Orphanet (Rare Disease Database).
21. ↑ Dysplasia, spondyloepimetaphyseal, type Czarny-Ratajczak. In: Orphanet (Rare Disease Database).
22. ↑ Dysplasia, spondyloepimetaphyseal, Genevieve type. In: Orphanet (Rare Disease Database).
23. ↑ Dysplasia, spondyloepimetaphyseal, Isidore type. In: Orphanet (Rare Disease Database).
24. ↑ Dysplasia, spondyloepimetaphyseal - hypotrichosis. In: Orphanet (Rare Disease Database).
25. ↑ Dysplasia, spondyloepimetaphyseal - curved forearms - facial dysmorphism. In: Orphanet (Rare Disease Database).
26. ↑ Dysplasia, spondyloepimetaphyseal - impaired tooth development. In: Orphanet (Rare Disease Database).
27. ↑ Spondylometaepiphyseal dysplasia, short limb-hand type.  In: Online Mendelian Inheritance in Man . (English)
28. ↑ Dysplasia, spondyloepimetaphyseal - short extremities - abnormal calcification. In: Orphanet (Rare Disease Database).
29. ↑ Spondyloepimetaphyseal dysplasia with joint laxity, type 2.  In: Online Mendelian Inheritance in Man . (English)
30. ↑ Dysplasia, spondyloepimetaphyseal, with multiple dislocations. In: Orphanet (Rare Disease Database).
31. ↑ Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.  In: Online Mendelian Inheritance in Man . (English)
32. ↑ Dysplasia, spondyloepimetaphyseal - overstretchability of the joints. In: Orphanet (Rare Disease Database).

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 !