Clinical Guidance

No genotype-phenotype correlations have been identified.

Source: GeneReviews — "Strmme Syndrome"

Diagnostic Criteria

No consensus clinical diagnostic criteria for Strmme syndrome have been published.

Suggestive Findings

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

Clinical findings

• Small bowel intestinal atresia, in particular apple peel intestinal atresia

• Microcephaly

• Mild-to-moderate developmental delay and/or intellectual disability

• Various ocular anomalies including anterior segment anomalies and microphthalmia

• Genitourinary anomalies including hypoplastic kidney, horseshoe kidney, hydroureteronephrosis, and/or cryptorchidism

Imaging findings

Source: GeneReviews — "Strmme Syndrome"

Differential Diagnosis

Strmme syndrome. Because Strmme syndrome is associated with a highly variable clinical presentation, phenotypic features are often not sufficient to diagnose the condition. All disorders that fall within the spectrum of ciliopathies should be considered in the differential diagnosis. Intestinal atresia. Syndromes of interest in the differential diagnosis of intestinal atresia are summarized in . Table 3. Genes of Interest in the Differential Diagnosis of Intestinal Atresia

Management Guidelines

No clinical practice guidelines for Strmme syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Strmme syndrome, 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 Strmme Syndrome

Source: GeneReviews — "Strmme Syndrome"

Therapies Under Investigation

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. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Strmme Syndrome"

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Strmme Syndrome

System/Concern | Evaluation | Frequency

Growth/Feeding

|

• Measurement of growth parameters

• Eval of nutritional status oral intake

| At each visit

Development

| Monitor developmental progress educational needs.

Ophthalmologic

| Eval of structural eye anomalies | Per treating ophthalmologist

Evaluate for changes in vision. | Per low-vision clinic

Family/

Community

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit

Source: GeneReviews — "Strmme Syndrome"