Abstract
Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.
Highlights
Aarskog–Scott syndrome (AAS), known as faciogenital dysplasia, is a rare X-linked syndrome with a recessive mode of inheritance (OMIM #305400). e condition was first described by Aarskog in 1970 and detailed by Scott in two different families with multiple affected males [1, 2]
E selected studies were those that met the following inclusion criteria: articles published in English; case reports that presented a complete description of the patients; male patients only; and cases that had a diagnosis confirmed by genetic testing, showing some types of pathogenic variants in the FGD1 gene
By the end of this process, 22 articles were included for analysis and qualitative synthesis, with 11 case reports/ case series, three short reports, five mixed methods articles, and three research letters
Summary
Aarskog–Scott syndrome (AAS), known as faciogenital dysplasia, is a rare X-linked syndrome with a recessive mode of inheritance (OMIM #305400). e condition was first described by Aarskog in 1970 and detailed by Scott in two different families with multiple affected males [1, 2]. E condition was first described by Aarskog in 1970 and detailed by Scott in two different families with multiple affected males [1, 2]. Aarskog related short-statured individuals with craniofacial anomalies such as hypertelorism, short nose, ptosis, and genital dysmorphism such as shawl scrotum and cryptorchidism. On the other hand, described the same characteristics in three different patients in 1971. Several other authors reported similar cases, describing patients whose phenotypes were characterised by the presence of variously associated signs, such as clinodactyly, brachydactyly, long philtrum, widow’s peak, camptodactyly, interdigital webbing, and inguinal/umbilical hernia. In most cases, the AAS-affected individuals showed average IQ [5,6,7,8]. In 1993, Teebi attempted to order the set of clinical
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