Primrose syndrome

A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

Also known as: Primrose syndrome, intellectual disability-cataracts-calcified pinnae-myopathy syndrome, PRIMS, ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes

0 clinical trials for this condition and its sub-types, 0 tagged with Primrose syndrome itself.