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

Rare Disease

autosomal recessive distal osteolysis syndrome

MONDO:0009810

Also known as:Petit-Fryns syndromedistal osteolysis-short stature-intellectual disability syndromeosteolysis syndrome recessive

Overview

Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.

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: Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, and Proptosis and others.

Organ System	Phenotype Count	Example Features
Head and neck	1	Hypoplasia of the maxilla
Brain and nerves

Diagnosis

Biomarker and diagnostic research for autosomal recessive distal osteolysis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 distal osteolysis syndrome.

204 publications have been identified in PubMed for autosomal recessive distal osteolysis syndrome. Kisho has analyzed 145 by research type. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	93	64%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259610

Orphanet

European rare disease database

Orphanet:2776

GARD

Genetic and Rare Diseases Info Center

GARD:4299

Questions for Your Care Team

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autosomal recessive distal osteolysis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive distal osteolysis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications