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Article

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology - 1 Jul 2026

Al-Rashdi Maryam, Al-Hadabi Abir, Mameesh Maha, Ganesh Anuradha, Al-Maawali Almundher, Al-Azri Fakhriya

Abstract excerpt

INTRODUCTION: Oculoskeletodental syndrome (OCSKD) is a rare ciliopathy characterized by dysmorphic facial features, congenital cataracts, dental and skeletal anomalies, developmental delays, and strokes. PIK3C2A plays a crucial role in membrane trafficking and various intracellular signaling pathways by synthesizing lipid messengers. To date, only two studies describing four families have linked PIK3C2A...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41817618
DOI: 10.1097/MCD.0000000000000559

Genes

PIK3C2A

Variants

Provenance

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Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.PMID 41817618Read ↗

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