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Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.
Biomarker and diagnostic research for Grubben-de Cock-Borghgraef syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Grubben-de Cock-Borghgraef syndrome.
233 publications have been identified in PubMed for Grubben-de Cock-Borghgraef syndrome. Kisho has analyzed 138 by research type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 98 | 71% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:29 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Grubben-de Cock-Borghgraef syndrome
Laboratory research |
18 |
13% |
Disease patterns and progression | 10 | 7% |
Patient case studies | 6 | 4% |
Other research | 2 | 1% |
Testing and diagnosis research | 2 | 1% |
Clinical study results | 1 | 1% |
New treatment approaches | 1 | 1% |
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Pignataro G (2025). [PMID: 41010942](https://pubmed.ncbi.nlm.nih.gov/41010942/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
Cardoso DL (2025). [PMID: 40393099](https://pubmed.ncbi.nlm.nih.gov/40393099/). *Eur J Radiol*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]