Boudhina-Yedes-Khiari syndrome | |
Symptoms: | cranial dysmorphisms, epilepsy, short stature, cutaneous lesions and intellectual disabilities |
Frequency: | very rare |
Prevention: | none |
Causes: | Genetic mutation |
Specialty: | Medical genetics, neurology, dermatology |
Synonyms: | Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions.[1] |
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.[2] [3] 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.[4]