Yunis-Varon Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Yunis-Varon syndrome is a very rare congenital skeletal dysplasia with the main features of a dressocranial dysostosis (changes in the face and collarbones) with micrognathia and an absence of the thumb .
Synonyms are: Kleidocranial Dysplasia with micrognathism and missing thumbs; english Cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia
The name refers to the authors of the first description from 1980 by the Colombian human geneticists Emilio Yunis and Humberto Varón .
distribution
The frequency is given as 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease is based on mutations in the FIG4 gene at location 6q21, which codes for FIG4 phosphoinositide 5-phosphatase.
Clinical manifestations
Clinical criteria are:
- Manifestation at birth
- Facial abnormalities such as micrognathia, wide open frontal cranial sutures , narrow high palate , deep-seated auricles , dolichocephaly
- Tooth development disorders
- A- or hypoplasia of the clavicles
- Thumb aplasia, often with a lack of the distal phalanges in the 2nd – 5th Ray, hypoplasia of the big toe
Differential diagnosis
The following are to be distinguished:
- Kleidocranial dysplasia (inheritance, mandibular hypoplasia)
- Mandibuloacral dysplasia (thumb aplasia)
literature
- Z. Hadipour, Y. Shafeghati, F. Hadipour: Yunis-Varón syndrome: the first report of two Iranian cases. In: Acta medica Iranica. Vol. 52, No. 1, 2014, pp. 85-87, PMID 24658994 .
- H. Rabe, T. Brune, R. Rossi, V. Steinhorst, G. Jorch , J. Horst, B. Wittwer: Yunis-Varon syndrome: the first case of German origin. In: Clinical dysmorphology. Vol. 5, No. 3, July 1996, pp. 217-222, PMID 8818450 .
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 Orphanet Yunis-Varon Syndrome
- ↑ E. Yunis, H. Varón: Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome. In: American Journal of Diseases of Children (1960). Vol. 134, No. 7, July 1980, pp. 649-653, PMID 7395825 .
- ↑ Yunis-Varon syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ PM Campeau, GM Lenk, JT Lu, Y. Bae, L. Burrage, P. Turnpenny, J. Román Corona-Rivera, L. Morandi, M. Mora, H. Reutter, AT Vulto-van Silfhout, L. Faivre , E. Haan, RA Gibbs, MH Meisler, BH Lee: Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. In: American Journal of Human Genetics . Vol. 92, No. 5, May 2013, pp. 781-791, doi: 10.1016 / j.ajhg.2013.03.020 , PMID 23623387 , PMC 3644641 (free full text).
- ↑ R. Elizondo-Dueñaz, G. Rivera-Silva, H. Marcos Abdala, M. López-Altamirano, HR-Martínez Menchaca: Síndrome de Yunis-Varon. In: Gaceta médica de México. Vol. 148, No. 1, 2012 Jan-Feb, pp. 81-82, PMID 22367312 .
