Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

postaxial acrofacial dysostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

postaxial acrofacial dysostosis

MONDO:0009903

Also known as:Mandibulfacial dysostosis with postaxial limb anomaliesMiller SyndromePOADS

Find Clinical TrialsTrials

Overview

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

GeneticsAutosomal recessive · DHODH (chr 16)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 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 very common findings: Cupped ear, Supernumerary nipple, Downslanted palpebral fissures, and Hypoplasia of the ulna and others; and common findings: Cleft palate, Conductive hearing impairment, Abnormality of the middle ear, and Finger syndactyly and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Abnormal foot morphology, Finger syndactyly, Camptodactyly of finger

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.

DHODH encodes dihydroorotate dehydrogenase (quinone) (395 aa). Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway Highest expression in Liver (43.8 TPM) and Cells EBV-transformed lymphocytes (8.6 TPM).

Postaxial acrofacial dysostosis is associated with mutations in the DHODH gene on chromosome 16.

The DHODH protein participates in DHODH:FMN oxidises (S)-DHO to orotate and DHODH:FMN:DHODH inhibitors pathways.

DHODH is classified as a druggable target (Druggable Genome and Enzyme categories) with score 5.5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 12 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for postaxial acrofacial dysostosis. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (29%).

Recent Publications

Aubert Mucca M (2026). [PMID: 41339098](https://pubmed.ncbi.nlm.nih.gov/41339098/). *Clin Genet*. [Epidemiology / Natural History]
Marszałek-Kruk BA (2026). [PMID: 41753091](https://pubmed.ncbi.nlm.nih.gov/41753091/). *J Clin Med*. [Basic Science / Preclinical]
Van Roey V (2026). [PMID: 42095487](https://pubmed.ncbi.nlm.nih.gov/42095487/). *J Plast Surg Hand Surg*. [Review / Meta-Analysis]
van Roey VL (2025). [PMID: 40694792](https://pubmed.ncbi.nlm.nih.gov/40694792/). *J Craniofac Surg*. [Epidemiology / Natural History]
van Roey VL (2025). [PMID: 40387849](https://pubmed.ncbi.nlm.nih.gov/40387849/). *J Craniofac Surg*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 7:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:263750

Orphanet

European rare disease database

Orphanet:246

GARD

Genetic and Rare Diseases Info Center

GARD:8410

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

postaxial acrofacial dysostosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features