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autosomal dominant omodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant omodysplasia

MONDO:0008123

Also known as:omodysplasia, autosomal dominantOMOD2omodysplasia 2

Overview

Autosomal dominant form of omodysplasia.

GeneticsAutosomal dominant · FZD2 (chr 17)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short humerus, Hypertelorism, Rhizomelic arm shortening, and Depressed nasal bridge; and common findings: Labial hypoplasia, Fibular hypoplasia, Tented upper lip vermilion, and Broad femoral neck and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Tented upper lip vermilion, Cleft palate, Bilateral cleft lip

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FZD2 encodes frizzled class receptor 2 (565 aa). Receptor for Wnt proteins. Highest expression in Cells Cultured fibroblasts (33.7 TPM) and Artery Aorta (24.5 TPM).

Autosomal dominant omodysplasia is associated with mutations in the FZD2 gene on chromosome 17.

The FZD2 protein participates in WNT5A-dependent internalization of FZD2, FZD5 and ROR2, FZD2, FZD5 and ROR2 are internalized in a WNT5A and clathrin-dependent manner, and PDE6 hydrolyses cGMP to GMP pathways.

FZD2 is classified as a druggable target (G Protein Coupled Receptor and Kinase categories) with score 8.7.

Diagnosis

Genetic testing for FZD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 22 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant omodysplasia.

2 publications have been identified in PubMed for autosomal dominant omodysplasia. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Jurk S (2026). [PMID: 41022130](https://pubmed.ncbi.nlm.nih.gov/41022130/). *Zeitschrift fur Geburtshilfe und Neonatologie*. [Case Report / Case Series]
Tophkhane SS (2024). [PMID: 38967226](https://pubmed.ncbi.nlm.nih.gov/38967226/). *Disease models & mechanisms*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164745

Orphanet

European rare disease database

Orphanet:93328

GARD

Genetic and Rare Diseases Info Center

GARD:3643

Questions for Your Care Team

→Should I pursue genetic testing for FZD2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant omodysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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