Clinical Guidance

FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) is characterized by short stature, distinctive facial features (including hypertelorism, ptosis, anteverted nares, wide mouth, thickened ear lobes), skeletal anomalies including camptodactyly and metatarsus varus, variable neurodevelopmental disorders, and variable congenital malformations in affected males. Heterozygous females are typically asymptomatic or show a milder, incomplete phenotype. To date, less than 200 individuals have been identified with a pathogenic variant in FGD1 . The following description of the phenotypic features associated with this condition is based on these reports. Affected Males Table 2. FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome): Frequency of Select Features

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.

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.

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