Oro-acral malformation complex
| Classification according to ICD-10 | |
|---|---|
| Q87.2 | Congenital malformation syndromes with predominant involvement of the extremities |
| ICD-10 online (WHO version 2019) | |
The oro-acral malformation complex is a very rare congenital malformation complex with the main characteristics microgenius , aglossia (lack of the tongue) or microglossia combined with malformations of the limbs.
Synonyms are: oro-acral syndrome; Aglossia-adactyly syndrome; Microglossia-adactyly syndrome; Ankyloglossum superius syndrome; Hypoglossia-adactyly syndrome; Hanhart Syndrome; Moebius Syndrome; Charlie M Syndrome; Jussieu syndrome
The name “Hanhart Syndrome” refers to the author of the description and coining of the term from 1950 by the Swiss internist and human geneticist Ernst Hanhart (1891–1973).
distribution
The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been reported. The inheritance is autosomal dominant .
root cause
The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Malformation of the tongue, hypoglossia
- Synechia between the upper and lower jaw (syngnathia)
- partial anodontics
- Microgenius , microstomy
- Cleft lip and palate
- more rarely Möbius syndrome with paralysis of cranial nerves
- wide nose, telekanthus , lower eyelid defects, facial asymmetry
- often symmetrical reduction deformities, peromelia, adactyly , syndactyly
- Oligodactyly
Differential diagnosis
Must be distinguished among other things, the acrofacial dysostosis type rodents .
therapy
Early treatment is an option for feeding and speaking problems and for limb malformations.
literature
- SC Elalaoui, I. Ratbi, M. Malih, M. Bounasse, A. Sefiani: Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. In: International journal of pediatric otorhinolaryngology. Vol. 74, No. 9, September 2010, pp. 1092-1094, doi: 10.1016 / j.ijporl.2010.06.011 , PMID 20637513 .
- Y. Yasuda, N. Kitai, Y. Fujii, S. Murakami, K. Takada: Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. In: The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association. Vol. 40, No. 2, March 2003, pp. 196-202, doi : 10.1597 / 1545-1569 (2003) 040 <0196: ROAPWH> 2.0.CO; 2 , PMID 12605528 (Review).
- P. Casha, JP Carreau, I. Koné-Paut, C. Palix, JM Dejode, P. Lagier, JM Garnier, R. Gola: Syndrome hypoglossie-hypodactylie: à propos d'un cas avec synostose maxillomandibulaire, ankylose glossopalatine et fente palatine. In: Archives de pediatrie: organe officiel de la Societe francaise de pediatrie. Vol. 3, No. 3, March 1996, pp. 241-244, PMID 8785561 .
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 Hypoglossia-Hypodactyly Syndrome. In: Orphanet (Rare Disease Database).
- ↑ E. Hanhart: About the combination of peromelia with micrognathia, a new syndrome in humans, corresponding to the acroteriasis congenita by Wriedt and Mohr in cattle. In: Archive of the Julius Klaus Foundation for Heredity Research, Social Anthropology and Racial Hygiene . Vol. 25, 1950, pp. 531-543.
- ↑ HYPOGLOSSIA-HYPODACTYLIA. In: Online Mendelian Inheritance in Man . (English)
