Clinical Guidance

No clinically relevant genotype-phenotype correlations have been identified .

Source: GeneReviews — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)"

Diagnostic Criteria

For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care . Clinical diagnostic criteria for FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) have been published . These criteria do not have consensus, and in current practice, diagnosis is established by the identification of a pathogenic variant in FGD1.

Suggestive Findings

Aarskog-Scott syndrome should be suspected/considered in probands with the following clinical findings and family history.

Clinical findings

Source: GeneReviews — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)"

Differential Diagnosis

Genetic disorders associated with similar facial features, short stature, and variable genital and other congenital anomalies in the differential diagnosis of FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) are listed in . Table 3. FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome): Genetic Differential Diagnosis

Management Guidelines

No clinical practice guidelines for FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

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

Table 4.

FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome): Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Growth/

Endocrine

| • Measurement of growth parameters

• Pubertal staging

• Bone age GH axis testing if height 2 SD below mean

| Consider endocrinology referral if height 2 SD below mean.

Musculoskeletal

| • Musculoskeletal exam for camptodactyly, foot malposition (metatarsus varus/ clubfoot), scoliosis

• Assessment of cervical spine mobility

| • Radiographs additional imaging as needed for osteochondritis dissecans when symptomatic

• Cervical spine radiographs are recommended before general anesthesia.

Genitourinary

| • Assessment for undescended testes genital hypoplasia

• Referral to urologist as needed

| Shawl scrotum has no clinical implication.

Dental

| Dental eval | To assess for crowding, eruption delay, malocclusion

Development

| • Assessment of developmental milestones, incl speech eval

Source: GeneReviews — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)"

Clinical Guidance

Avoid movements that cause sudden stress to the head and neck (e.g., somersaults, head dives, high-force cervical manipulation) and neck hyperextension during procedures until cervical abnormalities have been ruled out. Obtain cervical spine radiographs before general anesthesia.

Source: GeneReviews — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott 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 — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome): Recommended Surveillance

Source: GeneReviews — "FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)"