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Features include sometimes findings: Overlapping toe, Long fingers, Long hallux, and Pes planus and others. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Anxiety, Intellectual disability, Delayed speech and language development |
SOX5 function has not been fully characterized.
Lamb-Shaffer syndrome is caused by mutations in the SOX5 gene on chromosome 12.
Genetic testing for SOX5 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Lamb-Shaffer syndrome.
14 publications have been identified in PubMed for Lamb-Shaffer syndrome. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 64% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:04 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Lamb-Shaffer syndrome
2 |
Strabismus, Damage to the optic nerve (optic atrophy) |
Muscles | 2 | Generalized hypotonia, Damage to the optic nerve (optic atrophy) |
Arms and legs | 2 | Overlapping toe, Long fingers |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Vertebral clefting |
Head and neck | 2 | Vertebral clefting, Facial asymmetry |
2 |
14% |
Laboratory research | 2 | 14% |
Other research | 1 | 7% |
Zhang Z (2026). [PMID: 41621840](https://pubmed.ncbi.nlm.nih.gov/41621840/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Staedler K (2026). [PMID: 41739084](https://pubmed.ncbi.nlm.nih.gov/41739084/). *J Neuromuscul Dis*. [Basic Science / Preclinical]
Xu J (2026). [PMID: 41790631](https://pubmed.ncbi.nlm.nih.gov/41790631/). *Medicine (Baltimore)*. [Case Report / Case Series]
Hucko LN (2025). [PMID: 40163633](https://pubmed.ncbi.nlm.nih.gov/40163633/). *Ophthalmic Surg Lasers Imaging Retina*. [Case Report / Case Series]
Wang P (2025). [PMID: 40500800](https://pubmed.ncbi.nlm.nih.gov/40500800/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Yang X (2025). [PMID: 39905544](https://pubmed.ncbi.nlm.nih.gov/39905544/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Alkhabbaz AA (2025). [PMID: 40180173](https://pubmed.ncbi.nlm.nih.gov/40180173/). *J AAPOS*. [Case Report / Case Series]
Zhang L (2025). [PMID: 39779342](https://pubmed.ncbi.nlm.nih.gov/39779342/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Hayyan MJ (2025). [PMID: 41531626](https://pubmed.ncbi.nlm.nih.gov/41531626/). *Cureus*. [Case Report / Case Series]
Hu GX (2025). [PMID: 41423973](https://pubmed.ncbi.nlm.nih.gov/41423973/). *Sheng Li Xue Bao*. [Review / Meta-Analysis]
AI-curated news mentioning Lamb-Shaffer syndrome
Updated Aug 24, 2026
A recent case report highlights the effectiveness of cognitive training in improving outcomes for a patient with Lamb-Shaffer syndrome. This study contributes to the understanding of therapeutic approaches for this rare condition.
A case report details Lamb-Shaffer syndrome in a Chinese adolescent, contributing to the understanding of this rare genetic condition. This report may provide insights for future research and clinical considerations.