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Article

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics - 1 Mar 2026

Schwarz Martin, Fišer Miroslav, Šodková Lenka, Míšová Eva, Drahanský Martin, Vokálek Tomáš, Michalovská Renata, Matějková Adéla, Jindrová Jaroslava, Bendová Šárka, Macek Milan

Abstract excerpt

Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing...

Topics

Humans
Male
Filamins
Adolescent
Phenotype
Osteochondrodysplasias
Female
Mutation
Pedigree
Craniofacial Abnormalities
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Abnormalities, Multiple

Genetic Diseases, X-Linked

Forehead

Source

Identifiers

PMID: 40884164
DOI: 10.1111/cge.70056

Genes

FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-40884164-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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