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Aarskog-Scott Syndrome (X-linked)

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Aarskog-Scott syndrome (ASS), also known as faciogenital dysplasia, is a rare genetic disorder that primarily affects males and is caused by mutations in the FGD1 gene located on the X chromosome. This syndrome is characterized by a distinctive combination of facial, skeletal, and genital abnormalities, as well as short stature. Females who carry the defective gene may exhibit mild or no symptoms.

Signs and Symptoms
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The features of Aarskog-Scott syndrome can vary widely among individuals, but common characteristics include:

  • Facial features: Widely spaced eyes (hypertelorism), a small nose, a long philtrum, and a widow's peak hairline.
  • Skeletal abnormalities: Short stature, brachydactyly (short fingers), and curved pinky fingers (clinodactyly).
  • Genital anomalies: Shawl scrotum, undescended testicles (cryptorchidism), and delayed puberty in some cases.
  • Other symptoms: Umbilical or inguinal hernias, intellectual disabilities or learning difficulties, and joint hypermobility.
Clinodactyly
Hypertelorism
Genetics
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Aarskog-Scott syndrome is an X-linked recessive condition caused by mutations in the FGD1 gene, which plays a role in cellular signaling and skeletal development. Males with one defective copy of the gene will express the syndrome, while females with one defective copy are typically carriers and may show mild features due to X-chromosome inactivation.

Diagnosis
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Diagnosis is based on clinical examination and the presence of characteristic physical features. Genetic testing to identify mutations in the FGD1 gene can confirm the diagnosis. Differential diagnoses include other syndromes with overlapping features, such as Noonan syndrome or Robinow syndrome.

Treatment and Management
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There is no cure for Aarskog-Scott syndrome, and treatment is supportive and symptom-specific. Management strategies include:

  • Orthopedic care for skeletal abnormalities.
  • Educational support for intellectual or learning challenges.
  • Surgical interventions for hernias or undescended testicles.
  • Endocrinological evaluation for growth concerns and delayed puberty.


Prognosis
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The prognosis for individuals with Aarskog-Scott syndrome is generally favorable, with most affected individuals living normal lifespans. Early intervention and supportive care can improve quality of life and developmental outcomes.

Epidemiology
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Aarskog-Scott syndrome is considered rare, with its exact prevalence unknown. Cases have been reported worldwide, and the condition is thought to be underdiagnosed due to its variable presentation.

History
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Aarskog-Scott syndrome was first described by Dagfinn Aarskog, a Norwegian pediatrician, in 1970. Charles I. Scott Jr., an American medical geneticist, further characterized the syndrome in 1971, leading to the eponymous name.

See Also
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Noonan syndrome

Robinow syndrome

X-linked genetic disorders

Mdcoop23 (talk) 00:56, 4 December 2024 (UTC) Jabalameli, M. Reza, et al. "Aarskog-Scott syndrome: phenotypic and genetic heterogeneity." AIMS Genetics 3.01 (2016): 049-059. Drumond, Victor Zanetti, et al. "The prevalence of clinical features in patients with Aarskog–Scott syndrome and assessment of genotype-phenotype correlation: a systematic review." Genetics Research 2021 (2021): e19.