Presentation
Hyperactive and attention deficits are present in 61% of these individuals, which usually regress after 12-14 years of age. In individuals with subnormal intelligence, hyperactive and attention deficits are present in 84% cases [4-6]. [peertechzpublications.com]
Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. [ncbi.nlm.nih.gov]
Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients. [malacards.org]
Entire Body System
- Sepsis
Increased levels of circulating interleukin-8 in patients with large burns: Relation to burn size and sepsis. Journal of Trauma. 635-640. Vindenes, Halvard; Bjerknes, Robert. 1993. [uib.no]
- Asymptomatic
Reduced CD4 cell counts in blood do not reflect CD4 cell depletion in tonsillar tissue in asymptomatic HIV-1 infection. AIDS (London). F35-F38. Bjerknes, Robert; Vesterhus, P.; Aarskog, D. 1996. [uib.no]
- Fishing
Fish and Shellfish Immunology. 695-710. Øymar, Knut; Lærdal, Åge; Bjerknes, Robert. 2000. Soluble CD30 and CD23 in cord blood are not related to atopy in early childhood. Pediatric Allergy and Immunology. 220-224. [uib.no]
Skin
- Dermatitis
Urinary eosinophil protein X in children with atopic dermatitis: relation to atopy and disease activity. Allergy. European Journal of Allergy and Clinical Immunology. 964-968. Pettersen, Eirin Fausa; Bjerknes, Robert; Wergeland, H.I. 2000. [uib.no]
Workup
Serum
- Insulin-like Growth Factor I Increased
Priming of human polymorphonuclear neutrophilic leukocytes by insulin-like growth factor I: increased phagocytic capacity, complement receptor expression, degranulation, and oxidative burst. [uib.no]
- Hypophosphatemia
Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. European Journal of Endocrinology. 125-136. [uib.no]
- Hypophosphatemia
Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. European Journal of Endocrinology. 125-136. [uib.no]
Treatment
There are numerous treatments that exist and increase the quality of life. [peertechzpublications.com]
Other treatment is symptomatic and supportive. [rarediseases.org]
Prognosis
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]
Epidemiology
Epidemiology The syndrome has been described in eight female patients. Genetic counseling The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. [malacards.org]
Epidemiology Population prevalence is estimated to be 1/25,000, with a male predominance. [pacs.de]
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]
Prevention
Kaplan-Plauchu-Fitch syndrome A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....read more » Lathosterolosis A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents [wikidoc.org]