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autosomal recessive primary microcephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive primary microcephaly

MONDO:0016660

Also known as:true microcephalyMCPHmicrocephalia vera

Overview

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

OnsetINFANTILE, CONGENITAL

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.

No HPO annotations are available for this condition.

Age of onset: infancy, at birth.

GeneReviews

Clinical Guidance

To date, 153 individuals have been reported with WDR62 primary microcephaly (WDR62-MCPH). The findings in these 153 individuals are summarized in as Cohort 1 17 affected individuals reported by (including 1 previously reported by ); and Cohort 2 literature review of findings in 137 affected individuals compiled by . Table 3. WDR62 Primary Microcephaly: Frequency of Select Features by Cohort

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for WDR62 primary microcephaly (WDR62-MCPH) have been established. Suggestive Findings WDR62 primary microcephaly (WDR62-MCPH) should be suspected in individuals with the following clinical and neuroimaging findings and family history . Clinical findings • Microcephaly, usually congenital (identified before birth by ultrasound examination) with an occipitofrontal circumference ≥2 standard deviations (SD) below the mean at birth. In some instances, microcephaly may occur after birth, but within the first year of life. • Normal or delayed motor development • Mild-to-severe intellectual disability • Epilepsy • Behavior disorders • Pyramidal signs (from hemiplegia or quadriplegia to spasticity or brisk deep-tendon reflexes) • Ataxia • Absence of intrauterine growth restriction and other congenital anomalies Imaging findings. See . Table 1. WDR62 Primary Microcephaly: Frequency of MRI Findings by Cohort

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal recessive primary microcephaly. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for WDR62 primary microcephaly (WDR62-MCPH) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with WDR62-MCPH, the evaluations summarized in are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with WDR62 Primary Microcephaly

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7.

Recommended Surveillance for Individuals with WDR62 Primary Microcephaly

System/Concern | Evaluation | Frequency

Neurologic

| • Monitor those w/seizures as clinically indicated.

Assess for new manifestations such as new-onset seizures, spasticity, contractures, ataxia.

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 autosomal recessive primary microcephaly.

21 publications have been identified in PubMed for autosomal recessive primary microcephaly. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (19%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	9	43%

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 1:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2512

GARD

Genetic and Rare Diseases Info Center

GARD:12117

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	Cohort 11	Cohort 2Literature review2
OFC	17/173	72/1374 Motordevelopment
44/59 able to talk (words to short sentences, age: 2-29 yrs) ID	Mild	3/11
Moderate	4/11	2 individuals5
Severe	4/11	NA
Epilepsy	12/17	41/109
Behavior	Behavior disorders: 10/166	Behavior disorders: 21/24; Hyperkinesia: 4/21; Self-injury: 5/21; Aggressiveness: 15/21
Confusion: 2/21 Spasticity	6/17	15/29
Ataxia	7/17 (congenital: 6/7, progressive: 1/7)	1/29 ID = intellectual disability; NA = not available; OFC = occipitofrontal circumference described 17 individuals from 14 families newly diagnosed with WDR62 primary microcephaly.

MRI Finding	Cohort 11	Cohort 2Literature review2
All types of malformations of cortical development3	13/15 (87%)	41/51 (80%)
Pachygyria	10/15 (67%)	12/51 (24%)
Simplified gyral pattern	8/15 (53%)	15/51 (29%)
Severe malformations of cortical development4	5/15 (33%)	18/52 (35%)
Polymicrogyria	3/15 (20%)	9/51 (18%)
Schizencephaly	1/15 (7%)	5/51 (10%)
Lissencephaly	1/15 (7%)	3/51 (6%)
Neuronal heterotopia	1/15 (7%)	6/51 (12%)
Hypoplastic/dysgenetic corpus callosum	3/15 (20%)	22/51 (43%)
Unilateral/bilateral ventricular enlargement	3/15 (20%)	9/51 (18%) described 17 individuals from 14 families newly diagnosed with WDR62 primary microcephaly. The table provides information on the 15 individuals for whom data are available.

System/Concern	Evaluation	Comment
Constitutional	Measure height, weight, OFC.	—
Neurologic	Neurologic eval	Evaluate for spasticity cerebellar findings. If seizures are a concern:; Evaluate for malformations of cortical development (e.g., polymicrogyria, lissencephaly, schizencephaly, neuronal heterotopia), which are known to be assoc w/epilepsy.
Development	Developmental assessment	Incl motor, adaptive, cognitive speech-language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Eval by primary care provider /or mental health specialist	Incl screening for presence of behavior issues, incl sleep disturbances, ADHD, anxiety Spasticity/
Ataxia	Orthopedics/ physical medicine rehab/ PT OT eval	Assess:; Gross motor fine motor skills;; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills);; Possible progression of ataxia. Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of WDR62-MCPH to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with WDR62 Primary Microcephaly Manifestation/Concern	Treatment	Considerations/Other
DD/ID	See .	—
Speech delay	By speech-language pathologist	AAC in case of severe oral communication disorder
Behavior issues	Behavioral cognitive therapy1	Methylphenidate is seldom effective in ADHD.2
Epilepsy	Treatment by experienced neurologist w/ASM according to type of seizures	Lamotrigine, levetiracetam, sodium valproate, vigabatrin, oxcarbazepine, sulthiame have been mostly effective as monotherapy.; Multitherapy may be required; some seizures may resist treatment w/2 or 3 ASMs.; Education of parents/caregivers is helpful.3
Spasticity/Ataxia	Physical medicine rehab/ PT OT	Spasticity: stretching to mobility; antispastic treatment (baclofen) /or botulinum toxin treatment may be required.; Ataxia: no medications improve ataxia.; Mobility: use of a walker /or wheelchair may eventually be required.
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite care, support.	Consider involvement in adaptive sports or Special Olympics.

Kisho

autosomal recessive primary microcephaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Development

Speech delay

Behavioral

Musculoskeletal

Community

Recent Publications

Latest News & Developments

CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis.

autosomal recessive primary microcephaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Development

Speech delay

Behavioral

Musculoskeletal

Community

Recent Publications

Latest News & Developments

CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis.