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De Sanctis-Cacchione syndrome
Other Resources UpToDate PubMed

De Sanctis-Cacchione syndrome

Other Resources UpToDate PubMed

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

Best Tests

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References

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Last Updated:01/12/2022
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De Sanctis-Cacchione syndrome
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A medical illustration showing key findings of De Sanctis-Cacchione syndrome : Areflexia, Athetosis, Short stature, Spasticity, Reflexes decreased
Copyright © 2024 VisualDx®. All rights reserved.