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microcephaly with or without short stature - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly with or without short stature

MONDO:0100346

Overview

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.

Diagnosis

Biomarker and diagnostic research for microcephaly with or without short stature has been reported in the published literature.

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 microcephaly with or without short stature.

202 publications have been identified in PubMed for microcephaly with or without short stature. Kisho has analyzed 131 by research type. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (23%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	51	39%

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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microcephaly with or without short stature

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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