Frontometaphyseal Dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q78.5 | Metaphyseal dysplasia |
| ICD-10 online (WHO version 2019) | |
The Frontometaphysäre dysplasia ( FMD ) is a to the Oto-palato-digital syndromes associated congenital skeletal dysplasia with typical changes on the forehead and the metaphyses of the long bones .
Synonyms are: fronto-metaphyseal dysplasia; FMD ; Gorlin-Cohen Syndrome
The name refers to the first authors of the first description from 1969 by the American human geneticist Robert James Gorlin (Jan. 11, 1923-29. Aug. 2006) and the pediatrician Michael M. Cohen .
distribution
The frequency is given as less than 1 in 1,000,000, about 30 patients have been described so far. The inheritance is X-linked recessive , heterozygous women are only slightly affected.
root cause
The disease is based on mutations in the FLNA gene at gene location Xq28, which codes for filamin A, a protein of the cytoskeleton .
These are other diseases with mutations in this gene
- Melnick-Needles syndrome (MNS), both of which are also called together fronto-oto-palato-digital Osteodysplasien referred
- Oto-palato-digital syndrome type 1
- Oto-palato-digital syndrome type 2
Clinical manifestations
Clinical criteria are:
- Facial abnormalities such as supraorbital bulge, retracted and broad nasal roots , hypertelorism , antimongoloid eyelid axes, pointed chin , high palate , delayed or partially absent tooth development , maxillary micrognathia
- increasing hearing loss
- Muscle hypotrophy especially of the hand, flexion contractures of the fingers, ulnar deviation of the wrist
diagnosis
In the X-ray image characteristic changes are:
- Hyperostosis of the basal frontal bone , missing frontal sinuses , hyperostosis of the skullcap with a “steel helmet” shape of the skull
- Hypoplasia of the condylar process of the lower jaw
- metaphyseal widening with sclerotherapy , sometimes with bending of the long tubular bones
- Hypoplasia of the iliac
- dorsally accentuated flattening of the vertebral bodies , scoliosis
therapy
An operation on the skull is possible in some cases. When anesthesia problems with the airways occur.
literature
- SP Robertson: Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. In: European Journal of Human Genetics : EJHG. Vol. 15, No. 1, January 2007, pp. 3-9, doi: 10.1038 / sj.ejhg . 5201654 , PMID 16926860 .
- H. Kleinsorge, E. Böttger: The Gorlin-Cohen syndrome (fronto-metaphyseal dysplasia). In: RöFo: Advances in the field of X-rays and imaging procedures . Vol. 127, No. 5, November 1977, pp. 451-458, doi: 10.1055 / s-0029-1230740 , PMID 144680 .
Individual evidence
- ↑ a b c 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 Frontometaphyseal dysplasia. In: Orphanet (Rare Disease Database).
- ^ RJ Gorlin, MM Cohen: Frontometaphyseal dysplasia. A new syndrome. In: American Journal of Diseases of Children (1960). Vol. 118, No. 3, September 1969, pp. 487-494, PMID 5807657 .
- ↑ Frontometaphyseal dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ↑ Oto-palato-digital syndrome type 1. In: Orphanet (database for rare diseases).
- ↑ Oto-palato-digital syndrome type 2. In: Orphanet (database for rare diseases).
- ↑ A. Ganigara, M. Nishtala, YR Chandrika, KR Chandrakala: Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). In: Journal of anaesthesiology, clinical pharmacology. Vol. 30, No. 2, April 2014, pp. 279-280, doi: 10.4103 / 0970-9185.130100 , PMID 24803775 , PMC 4009657 (free full text).
