Clinical Guidance

No genotype-phenotype correlations have been identified .

Source: GeneReviews — "WDR62 Primary Microcephaly"

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

Source: GeneReviews — "WDR62 Primary Microcephaly"

Differential Diagnosis

The primary microcephalies are a group of rare, phenotypically and etiologically heterogeneous disorders of brain growth characterized by (1) a head circumference close to or greater than 2 SD below the mean at birth and greater than 3 SD below the mean by age one year, and (2) mild-to-severe intellectual disability. Additional clinical or neuroimaging features can be associated. Most primary microcephalies are inherited in an autosomal recessive manner. To date, pathogenic variants in more than 100 genes are known to cause primary microcephaly (for review, see ).

Source: GeneReviews — "WDR62 Primary Microcephaly"

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

Source: GeneReviews — "WDR62 Primary Microcephaly"

Therapies Under Investigation

The authors' research project on WDR62 primary microcephaly, approved by the National Ethics Committee, is registered at ClinicalTrials.gov (NCT01565005). This project aims to correlate genotype, findings on brain imaging, and intellectual abilities of individuals with primary microcephaly (MCPH). Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "WDR62 Primary Microcephaly"

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.

| At each visit

Development

| Monitor developmental progress educational needs.

Speech delay

| Speech-language pathologist: Monitor speech development.

Psychiatric/

Behavioral

| • Ancillary behavior assessment for anxiety, attention, aggressive or self-injurious behavior

• Refer for formal eval if concern exists.

Musculoskeletal

| Physical medicine, OT/PT assessment of mobility, self-help skills

Family/

Community

| Assess family need for social work support (e.g., respite care, other local resources) or follow-up genetic counseling if new questions arise (e.g., family planning).

OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "WDR62 Primary Microcephaly"