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intellectual disability-brachydactyly-Pierre Robin syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-brachydactyly-Pierre Robin syndrome

MONDO:0012095

Also known as:ROBIN sequence with distinctive facial appearance and brachydactyly

Overview

Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.

GeneticsAutosomal recessive

ResearchLimited published research (6 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: Exaggerated cupid's bow, Low muscle tone (hypotonia), Short finger, and Long upper lip and others; and common findings: Cloudy or opaque cornea (corneal opacity), Tented upper lip vermilion, Submucous cleft soft palate, and Delayed CNS myelination and others.

Organ System	Phenotype Count	Example Features
Head and neck	9	Tented upper lip vermilion, Submucous cleft soft palate, Long upper lip

Prognosis

Phenotype severity distribution: 15 always present features, 37 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.

No clinical trials have been registered for intellectual disability-brachydactyly-Pierre Robin syndrome.

6 publications have been identified in PubMed for intellectual disability-brachydactyly-Pierre Robin syndrome. Research spans Epidemiology / Natural History (33%), Other (17%), and Review / Meta-Analysis (17%).

Recent Publications

Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Cavadias I (2025). [PMID: 40069734](https://pubmed.ncbi.nlm.nih.gov/40069734/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Vegas N (2025). [PMID: 40474278](https://pubmed.ncbi.nlm.nih.gov/40474278/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Rahman F (2025). [PMID: 39668186](https://pubmed.ncbi.nlm.nih.gov/39668186/). *Eur J Hum Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608670

Orphanet

European rare disease database

Orphanet:364577

GARD

Genetic and Rare Diseases Info Center

GARD:17583

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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intellectual disability-brachydactyly-Pierre Robin 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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