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thumb stiffness-brachydactyly-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thumb stiffness-brachydactyly-intellectual disability syndrome

MONDO:0008563

Also known as:Piussan-Lenaerts-Mathieu syndromeThumb ankylosis with intellectual disabilityThumb ankylosis with mental retardation

Overview

Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Type A1 brachydactyly, Global developmental delay, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Global developmental delay, Intellectual disability

Explore clinical features

Diagnosis

Biomarker and diagnostic research for thumb stiffness-brachydactyly-intellectual disability syndrome 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 thumb stiffness-brachydactyly-intellectual disability syndrome.

156 publications have been identified in PubMed for thumb stiffness-brachydactyly-intellectual disability syndrome. Research spans Review / Meta-Analysis (58%), Case Report / Case Series (13%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	90	58%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:188201

Orphanet

European rare disease database

Orphanet:1078

GARD

Genetic and Rare Diseases Info Center

GARD:4375

Questions for Your Care Team

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thumb stiffness-brachydactyly-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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