Okulo-dento-digital dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Oculo-dento-digital dysplasia is a very rare congenital disease with abnormalities of the eye (okulo-), teeth (Dent) combined with malformations of the fingers or toes (digito).
Synonyms are: ODDD syndrome; ODD syndrome; Dysplasia, oculo-dento-osseous; Meyer-Schwickerath syndrome; English oculodentoosseous dysplasia (ODOD)
The name refers to the first author of the first description from 1957 by the Essen ophthalmologist Gerhard Meyer-Schwickerath .
distribution
The frequency is not known; around 250 people have been reported to be affected. The inheritance is done in most cases autosomal dominant , rare autosomal - recessive .
root cause
Of the disease are mutations in GJA1 - gene on chromosome 6 locus q22.31 based on which of the gap junction protein connexin encoded 43 (Cx43).
Mutations in this gene are also found in syndactyly type 3.
Clinical manifestations
Clinical criteria are:
- Microcornea , microphthalmia , dysplasia of the iris , hypotelorism , optic atrophy
- Nasal abnormalities with a long, thin nose, narrow nostrils
- Syndactyly of the 4th and 5th fingers, hypoplasia to aplasia of toes, clinodactyly , camptodactyly
- Tooth enamel abnormalities, microdontics , missing teeth, early tooth loss
- Facial abnormalities such as epicanthus medialis, strabismus , glaucoma , thickened and enlarged mandible
- Hypotrichosis , brittle, sparse hair
In addition, there may be hyperostosis of the skull and widening of the long bones , often also neurological abnormalities.
diagnosis
The diagnosis is based on the clinical findings and can be confirmed by detecting the mutation.
literature
- E. Taşdelen, CD Durmaz, HG Karabulut: Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature. In: Cytogenetic and genome research. Volume 154, number 4, 2018, pp. 181-186, doi: 10.1159 / 000489000 , PMID 29902798 (review).
- C. Hadjichristou, V. Christophidou-Anastasiadou, A. Bakopoulou, GA Tanteles, MA Loizidou, K. Kyriacou, A. Hadjisavvas, K. Michalakis, A. Pissiotis, P. Koidis: Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations. In: The International journal of prosthodontics. Volume 30, number 3, 2017 May / June, pp. 280-285, doi: 10.11607 / ijp.5130 , PMID 28319210 .
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 Dysplasia, okulo-dento-digital. In: Orphanet (Rare Disease Database).
- ↑ G. Meyer-Schwickerath, E. Gruterich, H. Weyers: Mikrophthalmussyndrome. In: Klinische Monatsblätter Augenheilkunde Vol. 131, S 18-30, 1957.
- ↑ Oculodentodigital dysplasia, autosomal recessive. In: Online Mendelian Inheritance in Man . (English)
- ↑ Oculodentodigital dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ^ Syndactyly type 3. In: Orphanet (database for rare diseases).
- ↑ M. De Bock, M. Kerrebrouck, N. Wang, L. Leybaert: Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? In: Frontiers in pharmacology. Volume 4, September 2013, p. 120, doi: 10.3389 / fphar.2013.00120 , PMID 24133447 , PMC 3783840 (free full text) (review).
