De Sanctis-Cacchione syndrome
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Synopsis
Rare autosomal recessive genetic disorder characterized by xeroderma pigmentosum with neurological deficiencies, dwarfism, and incomplete sexual development. Among the deficiencies noted are microcephaly, developmental delay, sensorineural deafness, hyporeflexia, areflexia, choreoathetosis, spasticity, and ataxia. Also observed are eye abnormalities, cerebral and olivopontocerebellar atrophy, and skin abnormalities, including telangiectasia, angiomas, keratoacanthomas, poikiloderma, and early-onset skin cancers.
Codes
ICD10CM:
H01.149 – Xeroderma of unspecified eye, unspecified eyelid
SNOMEDCT:
44600005 – Xeroderma pigmentosum
H01.149 – Xeroderma of unspecified eye, unspecified eyelid
SNOMEDCT:
44600005 – Xeroderma pigmentosum
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Last Updated:01/12/2022
De Sanctis-Cacchione syndrome