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distal monosomy 7q36 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 7q36

MONDO:0015580

Also known as:distal deletion 7q36distal monosomy type 7q36monosomy 7qter

Overview

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.

ResearchLimited published research (4 articles)

Prognosis

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 distal monosomy 7q36.

4 publications have been identified in PubMed for distal monosomy 7q36. Research spans Case Report / Case Series (75%) and Basic Science / Preclinical (25%).

Recent Publications

Aneja K (2025). [PMID: 39624702](https://pubmed.ncbi.nlm.nih.gov/39624702/). *Radiology case reports*. [Case Report / Case Series]
Lin R (2025). [PMID: 40747102](https://pubmed.ncbi.nlm.nih.gov/40747102/). *Frontiers in genetics*. [Case Report / Case Series]
Kendrick TS (2025). [PMID: 39774131](https://pubmed.ncbi.nlm.nih.gov/39774131/). *Annals of laboratory medicine*. [Basic Science / Preclinical]
Zhu J (2024). [PMID: 38847723](https://pubmed.ncbi.nlm.nih.gov/38847723/). *Medicine*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1636

GARD

Genetic and Rare Diseases Info Center

GARD:18731

Questions for Your Care Team

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distal monosomy 7q36

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team