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lethal short-limb skeletal dysplasia, Al Gazali type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal short-limb skeletal dysplasia, Al Gazali type

MONDO:0011051

Also known as:dysplastic cortical hyperostosis, Al-Gazali typelethal neonatal short limb dwarfismlethal short limb skeletal dysplasia Al Gazali type

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 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: Mesomelia, Opacification of the corneal stroma, Limb undergrowth, and Shortening of all metacarpals and 8 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Limb undergrowth, Shortening of all phalanges of fingers

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 lethal short-limb skeletal dysplasia, Al Gazali type.

3 publications have been identified in PubMed for lethal short-limb skeletal dysplasia, Al Gazali type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Clinical Trial Publication (33%).

Recent Publications

Shimura K (2026). [PMID: 42017525](https://pubmed.ncbi.nlm.nih.gov/42017525/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Maheshati A (2025). [PMID: 40371684](https://pubmed.ncbi.nlm.nih.gov/40371684/). *Orthopaedic surgery*. [Clinical Trial Publication]
Bouchenafa R (2024). [PMID: 38646780](https://pubmed.ncbi.nlm.nih.gov/38646780/). *American journal of physiology. Cell physiology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601356

Orphanet

European rare disease database

Orphanet:646136

GARD

Genetic and Rare Diseases Info Center

GARD:4827

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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lethal short-limb skeletal dysplasia, Al Gazali type

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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