Mandibulo-Facial Dysostosis-Microcephaly Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The mandibulo-facial dysostosis-microcephaly syndrome (MFDM) is a very rare congenital disease with the main features of dwarfism , mental retardation , mandibulo - facial dysostosis , microcephaly and cleft palate .
Synonyms are: English MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA; MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE
The name refers to the first author of the first description from the year 2000 by the Brazilian human geneticist Maria Leine Guion-Almeida and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far only a few children have been described. The inheritance is autosomal dominant .
root cause
The disease is based on mutations in the EFTUD2 gene at locus 17q21.31.
Clinical manifestations
Clinical criteria are:
- Manifestation of infancy
- Mandibulo-facial dysostosis with maxillary hypoplasia, prominent glabella, broad nasal bridge, often facial asymmetry
- Microcephaly, short stature
- mental retardation, very delayed beginning of speech
- Auricular malformations
- Esophageal atresia , tracheo-oesophageal fistula
Differential diagnosis
The following are to be distinguished:
- Treacher Collins Syndrome
- Rodent syndrome
- CHARGE syndrome
- Diamond Blackfan Syndrome
- Craniofacial microsomia
- Acrofacial dysostosis AFD type Genee-Wiedemann
literature
- R. Smigiel, N. Bezniakow, A. Jakubiak, M. Błoch, D. Patkowski, E. Obersztyn, MM Sasiadek: Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. In: Journal of applied genetics. Vol. 56, No. 2, May 2015, pp. 199-204, doi: 10.1007 / s13353-014-0255-4 , PMID 25387991 .
- ML Guion-Almeida, S. Vendramini-Pittoli, MR Passos-Bueno, RM Zechi-Ceide: Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? In: American journal of medical genetics. Part A. Vol. 149A, No. 12, December 2009, pp. 2762-2764, doi: 10.1002 / ajmg.a.32816 , PMID 19921636 .
Individual evidence
- ↑ a b c Mandibulo-facial dysostosis-microcephaly syndrome. In: Orphanet (Rare Disease Database).
- ↑ ML Guion-Almeida, NM Kokitsu-Nakata, A. Richieri-Costa: Mental and growth retardation, microtrigonocephaly, cleft palate and preauricular skin tags: a variant of the C syndrome or a new autosomal recessive syndrome? In: Brazilian Journal of Dysmorphology and Speech-Hearing Disorders Vol. 3, 2000, pp. 25-29
- ↑ Mandibulofacial dysostosis, Guion-Almeida type. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Gene Reviews
