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ring chromosome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 7

MONDO:0015441

Also known as:Ring chromosome type 7rose cluster 7R7

Overview

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

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: Hypospadias, Hypogonadism, Narrow mouth, and Thin vermilion border and others; and common findings: Skin color changes (abnormality of skin pigmentation), Slender finger, Enlarged brain ventricles (ventriculomegaly), and Short nose and others. 58 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Microcephaly, Abnormality of the face, Flat face

Diagnosis

Biomarker and diagnostic research for ring chromosome 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 29 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 ring chromosome 7.

121 publications have been identified in PubMed for ring chromosome 7. Research spans Epidemiology / Natural History (51%), Basic Science / Preclinical (18%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Disease patterns and progression	62	51%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1449

GARD

Genetic and Rare Diseases Info Center

GARD:1345

Questions for Your Care Team

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Kisho

ring chromosome 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ring chromosome 7

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications