Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

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Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Synonyms: Primrose syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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