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6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
ResearchLimited published research (4 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 very common findings: Low anterior hairline, Hypertelorism, Micrognathia, and Posteriorly rotated ears and others; and common findings: Hypermetropia, Nystagmus, Dysmetria, and Joint hypermobility and others. 49 total HPO annotations.
Organ System
Phenotype Count
Example Features
Brain and nerves
7
Delayed speech and language development, Global developmental delay, Seizure
Prognosis
Phenotype severity distribution: 23 very common features, 6 common features.
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 6q terminal deletion syndrome.
4 publications have been identified in PubMed for 6q terminal deletion syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Recent Publications
Alomar M (2025). [PMID: 40737824](https://pubmed.ncbi.nlm.nih.gov/40737824/). *Int J Surg Case Rep*. [Case Report / Case Series]
Peña-Padilla C (2025). [PMID: 41300817](https://pubmed.ncbi.nlm.nih.gov/41300817/). *Genes (Basel)*. [Review / Meta-Analysis]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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FAQ
Frequently Asked Questions
Common questions about 6q terminal deletion syndrome
6q terminal deletion syndrome is a rare condition characterized by a distinct facial appearance, including specific facial dysmorphism, as well as a short neck. People with this condition may also experience psychomotor retardation and various non-specific malformations.
This description is based on limited available information. The characteristic physical features and developmental challenges are notable aspects of this syndrome. Further details may help in understanding the full spectrum of manifestations in people with this condition.
Common signs of 6q terminal deletion syndrome include a distinctive facial appearance, short neck, and developmental delays such as psychomotor retardation. There may also be a range of non-specific malformations, though details about these can vary.
Information about causes is currently limited for this condition.
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