Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Orpha code: 3042OMIM code: 259050

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Primrose syndrome
Zespół Primrose'a
ORPHA code
3042
OMIM code
259050
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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