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autosomal recessive faciodigitogenital syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive faciodigitogenital syndrome

MONDO:0009209

Also known as:Aarskog-like syndromeTeebi-Naguib-Alawadi syndromefacio-digito-genital syndrome, Kuwait type

Overview

Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

GeneticsAutosomal recessive

ResearchLimited published research (5 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 sometimes findings: Hearing loss (hearing impairment), Intellectual disability, Trismus, and Vertebral fusion and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Short foot, Clinodactyly of the 5th finger, Hyperextensible hand joints

Prognosis

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.

No clinical trials have been registered for autosomal recessive faciodigitogenital syndrome.

5 publications have been identified in PubMed for autosomal recessive faciodigitogenital syndrome. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Turgut GT (2025). [PMID: 40170577](https://pubmed.ncbi.nlm.nih.gov/40170577/). *Clinical genetics*. [Epidemiology / Natural History]
Jeanne M (2025). [PMID: 39798962](https://pubmed.ncbi.nlm.nih.gov/39798962/). *Journal of medical genetics*. [Case Report / Case Series]
Kollara L (2024). [PMID: 36475306](https://pubmed.ncbi.nlm.nih.gov/36475306/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Case Report / Case Series]
Li S (2024). [PMID: 38411716](https://pubmed.ncbi.nlm.nih.gov/38411716/). *European journal of pediatrics*. [Review / Meta-Analysis]
Bertucci E (2024). [PMID: 38217107](https://pubmed.ncbi.nlm.nih.gov/38217107/). *International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227330

Orphanet

European rare disease database

Orphanet:1974

GARD

Genetic and Rare Diseases Info Center

GARD:5124

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive faciodigitogenital syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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