Presentation
Patients may present a neurodevelopmental phenotype with learning and behavioural disabilities that are often confined to early childhood. When present, mental impairment is rarely severe. [orpha.net]
Test characteristics 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) 100%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) 100%. 2.3 Clinical sensitivity (proportion of positive [nature.com]
This sterile fluid is also used to prevent the distribution of cancer cells, if they are present, by constantly washing out the surgical site. [verywellhealth.com]
Affected individuals may present with a range of mild learning difficulty and/or behavioral disorders: affected children may exhibit developmental delay during infancy, hyperactivity, attention deficit, impulsivity and opposition. [rarediseases.org]
Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia Kabuki syndrome (the KDM6A variant); multiple congenital anomalies and mental retardation. [en.wikipedia.org]
Entire Body System
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Short Stature
Size is generally normal at birth, but growth is slow in infancy and childhood, leading to short stature until puberty, which is often delayed. A growth spurt in late teens, generally, results in a moderate short stature. [orpha.net]
They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. [en.wikipedia.org]
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Disability
Patients may present a neurodevelopmental phenotype with learning and behavioural disabilities that are often confined to early childhood. When present, mental impairment is rarely severe. [orpha.net]
In rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people may not be diagnosed. [ghr.nlm.nih.gov]
In rare cases, severe intellectual disability has been reported.[3] Genetics[edit] X-linked recessive inheritance. Mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome. [en.wikipedia.org]
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Inguinal Hernia
Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely. [ghr.nlm.nih.gov]
Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).[3] The intellectual development of people with Aarskog–Scott syndrome varies widely. [en.wikipedia.org]
In addition, affected individuals may have a sunken chest (pectus excavatum), protrusion of portions of the large intestine through an abnormal opening in the muscular lining of the abdominal cavity (inguinal hernia), and a prominent navel (umbilicus) [rarediseases.org]
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Short Finger
Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. [ghr.nlm.nih.gov]
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Hodgkin Lymphoma
lymphoma 2019 one death aged 54. [en.wikipedia.org]
Ears
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Low Set Ears
Aarskog–Scott syndrome / Aarskog Syndrome Other names Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome[1] Specialty Medical genetics Symptoms Broad hands and feet, wide set eyes, low set ears, drooping [en.wikipedia.org]
Ear abnormalities include low-set ears and thickened, “fleshy” earlobes. Dental abnormalities include missing teeth at birth, delayed eruption of teeth, and underdevelopment of the hard outer covering of teeth (enamel hypoplasia). [rarediseases.org]
Musculoskeletal
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Skeletal Dysplasia
Aarskog syndrome is basically a skeletal dysplasia and affected males develop characteristic malformations of the skeletal system including disproportionate short stature; broad, short hands and feet; short, stubby fingers (brachydactyly) with permanent [rarediseases.org]
Psychiatrical
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Suggestibility
Evidence suggests that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause of these cases is unknown. [ghr.nlm.nih.gov]
These results suggest that FGD1 signaling may play a role in the biology of several different skeletal cell types including mesenchymal prechondrocytes, chondrocytes, and osteoblasts. [en.wikipedia.org]
JP Fryns: personal communication), a typical-sized clinical genetics unit, suggests that two to three new patients with a proven variant in the FGD1 gene will be identified per year, a similar number as for Angelman and Prader–Willi syndrome. [nature.com]
Face, Head & Neck
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Hypertelorism
Female carriers may have only a subtle phenotype with hypertelorism and widow's peak. Patients may present a neurodevelopmental phenotype with learning and behavioural disabilities that are often confined to early childhood. [orpha.net]
Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. [ghr.nlm.nih.gov]
Especially the latter condition presents with many clinical similarities (short stature, hypertelorism, facial features). [nature.com]
[…] genital anomalies.[2] This condition mainly affects males, although females may have mild features of the syndrome.[3][4] Signs and symptoms[edit] People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism [en.wikipedia.org]
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Short Neck
neck with or without webbing. [rarediseases.org]
Neurologic
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Behavior Problem
Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported. [ghr.nlm.nih.gov]
Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.[3] Genetics[edit] X-linked recessive inheritance. [en.wikipedia.org]
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Hyperactivity
Learning problems and attention deficit and hyperactivity disorder (ADHD), in case, may require a neuropsychiatric intervention. Prognosis The majority of patients present a good prognosis. [orpha.net]
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102. [ghr.nlm.nih.gov]
J Pediatr Endocrinol Metab 2006; 19: 1125–1131. 20 Orrico A, Galli L, Buoni S et al Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott Syndrome due to a novel FGD1 gene variant (R408Q). [nature.com]
Orrico A, Galli L, Buoni S et al: Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott Syndrome due to a novel FGD1 gene variant (R408Q). Am J Med Genet A 2005;135:99–102. [rarediseases.org]
Treatment
Management and treatment There is no curative treatment for AAS. Preliminary results of growth hormone administration in childhood do not seem to show a significant effect. [orpha.net]
[edit] Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.[6] Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct [en.wikipedia.org]
Other treatment is symptomatic and supportive. [rarediseases.org]
Prognosis
Prognosis The majority of patients present a good prognosis. Typically, they have a good evolution into adulthood with an age-related improvement of mental status. The documents contained in this web site are presented for information purposes only. [orpha.net]
Trials of growth hormone have been effective to treat short stature in this disorder.[7] Prognosis[edit] Some people may have some mental slowness, but children with this condition often have good social skills. [en.wikipedia.org]
Etiology
Etiology Although clinically and genetically heterogeneous, the best characterized form of the disorder is caused by mutations in the FGD1 gene (faciogenital dysplasia 1 gene; Xp11.21). [orpha.net]
Epidemiology
Summary Epidemiology AAS prevalence is not known, but less than 100 cases have been reported in the literature since the first description in 1970. However, prevalence estimates are thought to be around 1/25,000. [orpha.net]
Pathophysiology
The cause of Aarskog-Scott syndrome in other affected individuals is unknown.[3] Pathophysiology[edit] The Aarskog–Scott syndrome is due to mutation in the FGD1 gene. [en.wikipedia.org]
Chrousos, G.P. (1995) Corticotropin releasing hormone in the pathophysiology of melancholic and atypical depression and in the mechanism of action of antidepressant drugs. [scindeks.ceon.rs]
Prevention
This sterile fluid is also used to prevent the distribution of cancer cells, if they are present, by constantly washing out the surgical site. [verywellhealth.com]