Oto-spondylo-megaepiphyseal dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q77.7 | Dysplasia spondyloepiphysaria |
| ICD-10 online (WHO version 2019) | |
The Oto-spondylo-megaepiphysäre dysplasia short OSMED is an inherited skeletal dysplasia with a combination of sensorineural hearing loss ( "oto") and characteristic X-ray findings in the spine ( "spondylo") and enlarged epiphyses .
distribution
The frequency is given as less than 1 in 1,000,000, around 30 patients have been described so far. Inheritance is autosomal - recessive .
root cause
The disease are mutations in COL11A2 - gene at the location 6p21.32 or COL2A1 gene at the location 12q13.11 based encoding respectively for the formation of cartilage collagen.
OSMED is inherited in an autosomal recessive manner and is counted as a type XI collagenopathy , since most of the cases described carried homozygous mutations in the COL11A2 gene (6p21.3), which codes for the alpha-2 chain of type XI collagen .
COL11A2
Mutations in this gene can also be found in:
- Weissenbacher-Zweymüller syndrome .
- Stickler syndrome type III
- Fibrochondrogenesis type 2 (FBCG2)
- Hearing loss, autosomal recessive, type 53 (DFNB53)
- Deafness, autosomal dominant, type 13 (DFNA13)
COL2A1
Mutations in this gene can also be found in Stickler syndrome type I.
An attempt at an overview consists in the subdivision into homozygous or heterozygous .
Homozygous form
- Synonyms for the homozygous form are:
- Nance-Sweeney Syndrome
- Insley-Astley syndrome
- OSMED, autosomal recessive
- OSMED, homozygous
Heterozygous form
Synonyms for the heterozygous disease are:
- OSMED, autosomal dominant
- OSMED, heterozygous
- Pierre Robin Syndrome with Fetal Chondrodysplasia
- Stickler syndrome type III
- Weissenbacher-Zweymüller Syndrome (WZS)
There is no consensus as to whether there are distinct diseases at all or whether it is a spectrum of the same disease.
Clinical manifestations
According to what has been said about genetics, there is a considerable clinical overlap with the other syndromes.
Clinical criteria are:
- Inner ear hearing loss ( sensorineural hearing loss )
- Enlarged epiphyses of the long tubular bones and metacarpals, distended heads of the basal phalanges
- Vertebral abnormalities such as platyspondyly and cleft vertebrae
- Skeletal dysplasia with disproportionately short limbs
- Normal body length
- Typical face with midface hypoplasia, short nose and flat nasal bridge, long philtrum, microgenius and hypertelorism
mostly: Cleft palate From the second decade of life, joint pain with restricted mobility in the metacarpo-phalangeal joints occurs.
Differential diagnosis
Stickler syndrome can be differentiated early on the basis of the eye symptoms; differentiation from the WZS is more difficult.
Therapy and prognosis
No causal treatment is known. The various symptoms can be treated: closure of the cleft palate, audiometry with adjustment of a hearing aid, treatment of joint pain.
The prognosis is determined by the severity of the osteoarthritis.
Individual evidence
- ↑ 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 .
- ↑ a b c d Oto-spondylo-megaepiphyseal dysplasia. In: Orphanet (Rare Disease Database).
- ↑ OSMED. In: Online Mendelian Inheritance in Man . (English)
- ^ Medical genetics
- ↑ Weissenbacher-Zweymüller. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Stickler syndrome. In: Orphanet (Rare Disease Database).
- ↑ Rare Diseases OSMED homozygous
- ↑ Oto-spondylo-megaepiphyseal dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ↑ UWHealth
