Diagnostic Criteria

No consensus clinical diagnostic criteria for Wiedemann-Steiner syndrome (WSS) have been published.

Suggestive Findings

Wiedemann-Steiner syndrome should be suspected in individuals with the following clinical, imaging, and family history findings.

Clinical findings

• Distinctive facial features (, , )

• Hypertrichosis cubiti ("hairy elbows"), hypertrichosis of the back, and/or hypertrichosis of the lower limbs

• Sacral dimple

• Developmental delay/ intellectual disability

• Hypotonia

• Feeding difficulties

• Failure to thrive

• Short stature

• Constipation

Imaging findings

Source: GeneReviews — "Wiedemann-Steiner Syndrome"

Differential Diagnosis

The features associated with Wiedemann-Steiner syndrome (WSS) overlap those of a wide range of disorders. summarizes those disorders most commonly considered in individuals with clinical findings consistent with WSS. For less commonly considered disorders in the differential diagnosis, refer to . Table 3. Key Disorders in the Differential Diagnosis of Wiedemann-Steiner Syndrome

Management Guidelines

Suggested clinical practice guidelines for Wiedemann-Steiner syndrome (WSS) have been published. See (full text), (full text). Note: Institutional access or purchase required. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with WSS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Wiedemann-Steiner Syndrome

Source: GeneReviews — "Wiedemann-Steiner Syndrome"

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Wiedemann-Steiner Syndrome

System/Concern | Evaluation | Frequency

Growth/Feeding

| • Measure growth parameters evaluate growth velocity.

• Evaluate nutritional status.

| At each visit2

Gastrointestinal

| Monitor for constipation.

Neurologic

| • Monitor those w/seizures as clinically indicated.1

• Assess for new manifestations such as seizures.

• Assess for clinical signs of medullar compression, esp in those w/vertebral anomalies.

Development

| Monitor developmental progress educational needs.

Psychiatric/

Behavioral

| Behavior assessment for attention aggressive behaviors

Musculoskeletal

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

Cardiovascular

| Monitor for any signs/symptoms of arrhythmia.

Immunologic

| Monitor for any signs of frequent infection.

Family/

Community

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination.

ENT/Mouth

| Monitor for signs/symptoms of sleep disturbance.

Dental eval | After eruption of primary teeth, every 6 mos

Endocrine

| Assessment for premature thelarche or pubertal abnormalities (primary amenorrhea) | Starting in childhood until growth/menarche is complete

Eyes | Ophthalmology eval | Annually or as clinically indicated

1. May include EEG follow up, as indicated

Source: GeneReviews — "Wiedemann-Steiner Syndrome"