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intellectual disability, Buenos-Aires type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, Buenos-Aires type

MONDO:0009584

Also known as:Mutchinick syndromeintellectual deficit Buenos-Aires typeintellectual disability Buenos Aires type

Overview

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.

ResearchLimited published research (9 articles)

Diagnosis

Biomarker and diagnostic research for intellectual disability, Buenos-Aires type has been reported in the published literature.

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 intellectual disability, Buenos-Aires type.

10 publications have been identified in PubMed for intellectual disability, Buenos-Aires type. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).

Recent Publications

Cheong I (2026). [PMID: 42083064](https://pubmed.ncbi.nlm.nih.gov/42083064/). *J Clin Ultrasound*. [Case Report / Case Series]
Andrés ME (2025). [PMID: 39467110](https://pubmed.ncbi.nlm.nih.gov/39467110/). *Arch Argent Pediatr*. [Case Report / Case Series]
Romagnoli AS (2025). [PMID: 40032500](https://pubmed.ncbi.nlm.nih.gov/40032500/). *J Appl Res Intellect Disabil*. [Diagnostic / Biomarker]
Muenzer J (2025). [PMID: 40598289](https://pubmed.ncbi.nlm.nih.gov/40598289/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Jaramillo IO (2025). [PMID: 39976656](https://pubmed.ncbi.nlm.nih.gov/39976656/). *Discov Ment Health*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249630

Orphanet

European rare disease database

Orphanet:3079

GARD

Genetic and Rare Diseases Info Center

GARD:3485

Questions for Your Care Team

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intellectual disability, Buenos-Aires type

Overview

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