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microcephalic primordial dwarfism due to RTTN deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephalic primordial dwarfism due to RTTN deficiency

MONDO:0018764

Overview

Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.

GeneticsAutosomal recessive · RTTN (chr 18)

OnsetCONGENITAL

ResearchLimited published research (1 article)

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 always present findings: Decreased body weight, Microcephaly, EEG abnormality, and Short stature and others; and common findings: Shrinkage of the cerebellum (cerebellar atrophy), Flexion contracture, Dysarthria, and Polymicrogyria. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Poor speech, Moderate intellectual disability, Delayed speech and language development

Genetic Landscape

RTTN function has not been fully characterized.

Microcephalic primordial dwarfism due to RTTN deficiency is caused by mutations in the RTTN gene on chromosome 18.

Diagnosis

Genetic testing for RTTN is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 4 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 microcephalic primordial dwarfism due to RTTN deficiency.

1 publication has been identified in PubMed for microcephalic primordial dwarfism due to RTTN deficiency. Research spans Basic Science / Preclinical (100%).

Recent Publications

Guguin J (2024). [PMID: 39680576](https://pubmed.ncbi.nlm.nih.gov/39680576/). *PLoS Genet*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614833

Orphanet

European rare disease database

Orphanet:468631

GARD

Genetic and Rare Diseases Info Center

GARD:17841

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microcephalic primordial dwarfism due to RTTN deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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