| Boudhina-Yedes-Khiari syndrome | |
|---|---|
| Other names | Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. |
| Specialty | Medical genetics, neurology, dermatology |
| Symptoms | cranial dysmorphisms, epilepsy, short stature, cutaneous lesions and intellectual disabilities |
| Causes | Genetic mutation |
| Prevention | none |
| Frequency | very rare |
Boudhina Yedes Khiari syndrome is a very rare neurocutaneous genetic disorder which is characterized by short stature, microcephaly, intellectual disabilities, tendency to have seizures, hearing loss and skin lesions. This disorder was first discovered in the summer of 1990 in Paris, France by T Boudhina et al., when three sisters were described as sharing the symptoms mentioned above, these symptoms were also found to have a high prevalence within their family afterwards. The suspected mode of inheritance is autosomal recessive.
References
- "Boudhina Yedes Khiari syndrome". 16 June 2022.
- "Boudhina Yedes Khiari syndrome (Concept Id: C2931668) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-14.
- "Boudhina Yedes Khiari syndrome - Ontology Browser - Rat Genome Database". rgd.mcw.edu. Retrieved 2022-05-14.
- Boudhina, T.; Yedes, A.; Khiari, S.; Ghram, N.; Ben Becher, S.; Makni, S.; Ben Jemaa, M.; Hamza, M. (June 1990). "[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome]". Annales de Pédiatrie. 37 (6): 399–403. ISSN 0066-2097. PMID 2400194.
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