Синдром спондилометафізарної дисплазії - дистрофії рогівки

Визначення(English summary)

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.