Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Megalocornea-intellectual disability syndrome
Другие языки:

Megalocornea-intellectual disability syndrome

Подписчиков: 0, рейтинг: 0
Megalocornea-intellectual disability syndrome
Other names Neuhauser syndrome
Specialty Medical genetics
Symptoms Ocular and intellect symptoms
Usual onset Birth
Duration Lifelong
Causes Genetic mutation
Prevention none
Prognosis Medium
Frequency very rare, only 24 cases have been described in medical literature
Deaths -

Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature.


Новое сообщение