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EntityQ17162578· pop 6· linked from 10 articles

Macrocephaly-capillary malformation

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Also known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita, Megalencephaly-capillary malformation syndrome, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP, MCM, MCMTC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, MCAP

disease

In the Vinony graph

Within Vinony's link graph, Macrocephaly-capillary malformation is referenced by 10 other articles, and connects out to port-wine stain, skin and blood vessel.

It is catalogued under topics including Human physical appearance, Rare diseases and Syndromes.

Its subject is documented across 6 Wikipedia language editions.

Research

53 papers

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.Clinical dysmorphology · 2012
Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.Brain & development · 2012
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022
Macrocephaly-capillary malformation: a report of three cases and review of the literature.Pediatric dermatology · 2009
[Macrocephaly-capillary malformation. A neonatal case].Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2012

Wikidata facts

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ICD-9-CM: 759.89
exact match: www.orpha.net/ORDO/Orphanet_60040
genetic association: PIK3CA

Sources (3)

via Wikidata · CC0

Available in 6 languages

via Wikidata sitelinks · CC0

Categories

Human physical appearance Rare diseases Syndromes Syndromes affecting head size Syndromes affecting the nervous system