Clinical Guidance

No genotype-phenotype correlations have been identified.

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"

Penetrance

Penetrance is unknown.

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"

Diagnostic Criteria

Formal diagnostic criteria for Shprintzen-Goldberg syndrome (SGS) have not been established.

Suggestive Findings

SGS should be suspected in individuals with a combination of the following clinical and radiographic features:

• Neurodevelopment. Hypotonia, delayed motor and cognitive milestones, mild-to-moderate intellectual disability

• Craniosynostosis usually involving the coronal, sagittal, or lambdoid sutures

• Craniofacial findings

• Dolichocephaly with or without scaphocephaly

• Tall or prominent forehead

• Hypertelorism

• Downslanting palpebral fissures

• Ocular proptosis

• Malar flattening

• High narrow palate with prominent palatine ridges

• Micrognathia and/or retrognathia

• Apparently low-set and posteriorly rotated ears

• Musculoskeletal findings

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"

Differential Diagnosis

Loeys-Dietz syndrome

(LDS) and Marfan syndrome (MFS). The phenotype of Shprintzen-Goldberg syndrome (SGS) is distinctive but shows some overlap with LDS and MFS . Distinguishing features of SGS include the following:

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Shprintzen-Goldberg syndrome (SGS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Shprintzen-Goldberg Syndrome

System/Concern | Evaluation | Comment

Neurodevelopment

| Assessment for developmental disabilities | Referral for early intervention services; consider referral to neurodevelopmental specialist.

Craniofacial

| • Physical exam

• Head CT to evaluate sutures if craniosynostosis suspected

| To identify cleft palate craniosynostosis

Musculoskeletal

| Referral to orthopedist /or radiographs as indicated | To evaluate for C1/C2 abnormality, scoliosis, severe pectus deformity, abnormal joint mobility, foot malposition

Cardiovascular

| Echocardiogram | To evaluate for aortic root dilatation

Consider MRA or CT scan w/3D reconstruction from head to pelvis. | To identify arterial aneurysms arterial tortuosity throughout the arterial tree

Ophthalmology

| Exam by ophthalmologist w/expertise in connective tissue disorders | To evaluate for myopia complications of proptosis

Neurology

| Brain MRI | To evaluate for Chiari I malformation

Other

| Consultation w/clinical geneticist /or genetic counselor |

Treatment of Manifestations

Management of SGS is best conducted through the coordinated input of a multidisciplinary team of specialists including ...

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"

Clinical Guidance

The following should be avoided:

• Contact sports, which may lead to catastrophic complications in those with cardiovascular issues or cervical spine anomalies/instability

• Agents that stimulate the cardiovascular system, including routine use of decongestants

• Activities that cause joint pain or injury

Source: GeneReviews — "Shprintzen-Goldberg 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 — "Shprintzen-Goldberg Syndrome"

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Shprintzen-Goldberg Syndrome

Source: GeneReviews — "Shprintzen-Goldberg Syndrome"