Symptoma

Aughton Syndrome

However, since males have only one X chromosome, if they inherit a gene for a disease present on the X, it is more likely to be fully expressed. [rarediseases.org]

  • Asymptomatic

    As a result, one or more of the parent’s children may inherit the gene mutation, potentially leading to manifestation of the disorder, while the parent may have no apparent symptoms (asymptomatic carrier). [rarediseases.org]

  • Precocious Puberty

    puberty, scoliosis, hip dysplasia Usual onset conception Types type 1 (KMT2D), type 2 (KDM6A); other rare mutations unrecognized for now Causes loss-of-function mutations in KMT2D or KDM6A genes Diagnostic method clinical findings; genetic testing Frequency [en.wikipedia.org]

  • Failure to Thrive

    Affected infants may fail to grow and gain weight at the rate expected for age and gender (failure to thrive). Growth deficiencies may ultimately result in a final adult height that is below normal (short stature). [rarediseases.org]

  • Eruptions

    Although the eruption usually resolves during infancy, older children may subsequently develop inflammation and wasting (atrophy) of follicles (follicular atrophoderma), causing pores to appear unusually large. [rarediseases.org]

  • Tremor

    Neuro na l intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Eur J Hum Genet 2002;10:(Suppl1):63 39. He}imovi} S, Bari{i} I, Muller A i sur. Expand Long PCR for fragile X mutation detection. [yumpu.com]

Standard Therapies Treatment The treatment of Conradi-Hünermann syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Clinical spectrum of cortical dysplasia in childhood; diagnosis and treatment issues. J Child Neurol 1999;12:759–71 48. Deb S. Structural neuroimaging in learning disability. Br J Psychiatr 1997; 171:417–419. 49. Walsh KK. Kastner TA. [yumpu.com]

Post treatment, patient would not feel anything. The function of the Botox is it helps frees the muscle, same concept as botox on forehead to avoid frowns.. [picbon.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The classic symptoms of Conradi-Hünermann syndrome involved the skeleton, skin and eyes. [rarediseases.org]

Etiologic yield of subspecialists’ evaluation of young children with global developmental delay. J Pediatr 2000;136:593–8. 25. Hunter AG. Outcome of the routine assessment of patients with mental retardation in a genetics clinic. [yumpu.com]

Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. [ghr.nlm.nih.gov]

Various orthopedic measures, including surgery, may be recommended to help prevent, treat, or correct certain skeletal abnormalities associated with the disorder. [rarediseases.org]