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]

Discussion In the case reported, we present a challenging diagnosis of Scott syndrome. [journals.lww.com]

[…] abnormality due to deficiency of platelet binding of factor X Bleeding disorder platelet-type 7 Prothrombin consumption deficiency Prothrombin consumption inhibitor familial Prothrombin conversion defect familial Disclaimer Any medical or genetic information present [uniprot.org]

Besta," Milan, Italy See all articles by this author, Chiara Pantaleoni, MD First Published Online: July 2, 2016 Abstract We report on a girl presenting with mental retardation, craniofacial dysmorphisms, and syndactyly. [journals.sagepub.com]

• 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]

• 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]

  Cryptorchidism and inguinal hernia are present in about 50% of cases. Fernandez et al. (1994) reported ten cases from three Japanese families. Two of these cases had a congenital heart defect (pulmonary stenosis and a VSD). [fdna.health]

• 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]

• Hodgkin Lymphoma

  lymphoma 2019 one death aged 54. [en.wikipedia.org]

• 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]

• 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]

  This led the authors to suggest X-linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X-linked inheritance. [onlinelibrary.wiley.com]

• 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]

• Short Neck

  neck, Delayed puberty, Failure to thrive, Decreased fertility, Curved linear dimple below the lower lip, Cryptorchidism, Downslanted palpebral fissures, Cleft upper lip, Brachydactyly. [fdna.health]

  neck with or without webbing. [rarediseases.org]

• 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]

  Orrico et al. (2005) described an atypical case with borderline intelligence and attention deficit hyperactivity disorder, who had a R408Q mutation inherited from his mother. [fdna.health]

  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]

• 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]

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]

Treatment may require the efforts of a team of specialists who will work together to systematically and comprehensively plan an affected child's treatment. [rarediseases.org]

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]

Prospective and Multicentre Evaluation of 3 Different Doses of IV Busulfan Associated With Fludarabine and Thymoglobuline in the Conditioning of Allogeneic Stem Cell Transplantation (SCT) From a Matched Related or Unrelated Donor in Patients With Poor Prognosis [malacards.org]

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]

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]

Lenalidomide (Revlimid®) Plus Low-dose Dexamethasone (Ld x 4 Cycles) Then Stem Cell Collection Followed by Randomization to Continued Ld or Stem Cell Transplantation (SCT) Plus Maintenance L Completed NCT00807599 Phase 2 lenalidomide and dexamethasone 28 Epidemiologic [malacards.org]

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]

Cytoskeletal signaling may be involved in the pathophysiology of AAS. [aimspress.com]

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]

Scott syndrome is a rare autosomal recessive platelet membrane disorder that prevents phosphatidyl serine from migrating to the outer membrane layer upon activation. [fritsmafactor.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]

[…] or Cytarabine-based Chemotherapy, in Patients With Poor-risk Acute Myeloid Leukemia (AML) or Myelodysplastic Syndrome (MDS) Completed NCT01700673 Phase 2 Azacitidine 45 A Phase II, Randomized Trial of Standard of Care, With or Without Midostaruin to Prevent [malacards.org]