Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

doi:10.1136/jmg.35.9.763

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Article

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

Journal of medical genetics - 1 Sept 1998

Flanagan N, Boyadjiev S A, Harper J, Kyne L, Earley M, Watson R, Jabs E W, Geraghty M T

Abstract excerpt

We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies...

Topics

Abnormalities, Multiple
Anal Canal
Craniosynostoses
Genes, Recessive
Humans
Infant
Infant, Newborn
Male
Mutation
Nuclear Family
Pedigree
Porokeratosis
Receptors, Fibroblast Growth Factor
Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 9733036
DOI: 10.1136/jmg.35.9.763
PMCID: PMC1051430

Genes

FGFR1
FGFR2
FGFR3

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9733036-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.