Al-Gazali-Donnai-Mueller syndrome
Подписчиков: 0, рейтинг: 0
| Al-Gazali-Donnai-Mueller syndrome | |
|---|---|
| Other names | Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome |
| Specialty | Medical genetics |
| Symptoms | Partial absence of nerves in the intestines, facial dysmorphisms and nail hypoplasia |
| Complications | Death |
| Usual onset | Birth |
| Duration | Life-long (short life span) |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Bad |
| Frequency | very rare |
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears. No more new cases have been reported in medical literature since 1988. It is a type of Hirschsprung's syndrome.