Symptoma

Vásquez-Hurst-Sotos Syndrome

Hypogonadism - Gynecomastia - X-Linked Intellectual Disability Syndrome

Abstract Five male members in four generations of the same family presented with hypogonadism, micropenis, mental retardation and short stature. The adults had gynecomastia, obesity and normal size hands and feet. [nature.com]

Although it is fully expressed in males only, heterozygote females may present some of the symptoms. ... [accessanesthesiology.mhmedical.com]

In recent years, commercial presentations of poultry meat have had… (More) Is this relevant? 2012 2012 The Illusion of Inclusion : A Critical Race Theory Textual Analysis of Race and Standards Julian Vasquez Heilig, Keffrelyn D. Brown, A. L. [semanticscholar.org]

Education & Training Certifications & Licensure Publications & Presentations PubMed Neuropsychiatry: a management model for academic medicine. Schiffer, R.B., Bowen, B., Hinderliter, J., Hurst, D.L., Lajara-Nanson, W.A., Packard, R.C. [doximity.com]

  • Weight Gain

    Any unexplained weight gain needs prompt professional medical advice.more ». Any unexplained weight gain needs prompt professional medical advice. [etalger.org]

    He showed normal weight gain and head circumference, which had not been described previously. Hematologic and molecular studies of the patient excluded the thalassemia trait or Hb H disease. [omim.org]

  • Crying

    Patients present with short stature, generalized obesity, hypotonia, mental retardation, abnormal cry, and seizures. [accessanesthesiology.mhmedical.com]

  • Genu Valgum

    Clinical features can include various anomalies, including craniofacial (narrow forehead, up-slanted fissures, brachycephaly, microphthalmia, narrow palate, bifid uvula), orthopedic (kyphoscoliosis, camptodactyly, genu valgum, proximally set thumb, ulna [accessanesthesiology.mhmedical.com]

  • Narrow Forehead

    Four had small head, with narrow forehead in two. History of neonatal hypotonia with difficulty in feedings was obtained in two. A variety of structural abnormalities of the hand and other skeletal defects were observed in some. [nature.com]

    Clinical features can include various anomalies, including craniofacial (narrow forehead, up-slanted fissures, brachycephaly, microphthalmia, narrow palate, bifid uvula), orthopedic (kyphoscoliosis, camptodactyly, genu valgum, proximally set thumb, ulna [accessanesthesiology.mhmedical.com]

  • Short Neck

    Other clinical features include microcephaly, prominent supraorbital ridges, ptosis, unusually deep-set eyes, and/or a short neck. An X-linked dominant or recessive genetic trait has been suggested. [accessanesthesiology.mhmedical.com]

  • Narrow Face

    Clinical Features Smith et al. (1980) described 2 brothers with a combination of mental retardation, microcephaly, short stature, and unusual facial appearance, including slanted palpebral fissures, narrow face with maxillary overjet, alternating exotropia [omim.org]

  • Learning Difficulties

    Symptoms - Vasquez Hurst Sotos syndrome * Mental retardation * Mild skeletal defects * Deafness * Concentration difficulties * Learning difficulties * Dysmorphic facies * Hypogonadism * Hypotonic facies * Renal anomalies * Incomplete development of genitals [checkorphan.org]

  • Dysphasia

    familial developmental Dysphasia, familial developmental MedGen Managing Gastric Linitis Plastica: Keep the scalpel sheathed Managing Gastric Linitis Plastica: Keep the scalpel sheathed Sultan Qaboos University Medical Journal. 2013 Aug; 13(3)451 Peripheral [ncbi.nlm.nih.gov]

  • Liver Biopsy

    Liver function studies, liver biopsy, and serum iron and iron-binding capacity will help rule out hemochromatosis and cirrhosis of the liver. [checkorphan.org]

Treatment - Vasquez Hurst Sotos syndrome o Pubertal –No treatment if pubertal development and physical exam are normal –Re-evaluation in 6 months * Cessation of drugs when implicated * Testosterone replacement if indicated for hypogonadism * Weight loss [checkorphan.org]

[…] syndrome Risk calculators and risk factors for Vasquez Hurst Sotos syndrome Healthcare Provider Resources Symptoms of Vasquez Hurst Sotos syndrome Causes & Risk Factors for Vasquez Hurst Sotos syndrome Diagnostic studies for Vasquez Hurst Sotos syndrome Treatment [wikidoc.org]

The complications of Juberg Marsidi Syndrome may include severe motor disabilities owing to low muscle tone and severe mental retardation The treatment measures might include physiotherapy to improve muscle tone, occupational therapy to allow a child [dovemed.com]

Recent advances over the past few decades have made endovascular embolization the preferred method of treatment and these treatments are preferred because they offer little threat to the surrounding brain tissue. [wikivisually.com]

Prognosis - Vasquez Hurst Sotos syndrome Not supplied. [checkorphan.org]

& symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

This indicates a selection against cells with an active X chromosome with the mutated HDAC8 gene. [1] Treatment and prognosis [ edit ] Common treatment [ edit ] There is no known cure available for Wilson-Turner syndrome. [en.wikipedia.org]

Epidemiology and Demographics It has been described in five males from four generations of one family. [wikidoc.org]

This language habitat can cause confusion in the communication of the principle in epidemiology. Diseases can affect not only physically, but also emotionally. [wikivisually.com]

Epidemiology [ edit ] This disorder affects all demographics equally. The two families that were studied are of European ancestry. [en.wikipedia.org]

[…] gynecomastia - X-linked intellectual deficit Overview Vasquez-Hurst-Sotos syndrome is characterized by the association of X-linked intellectual deficit, hypogonadotropic hypogonadism, gynecomastia, facial dysmorphism, obesity, and short stature. [1] Pathophysiology [wikidoc.org]

"Gynaecomastia—pathophysiology, diagnosis and treatment". Nature Reviews Endocrinology. 10 (11): 684–698. doi : 10.1038/nrendo.2014.139. PMID 25112235. Cordova, Adriana; Moschella, Francesco (2008). [en.wikipedia.org]

Pseudogynecomastia –Fat deposition without glandular development –Seen in obesity o Other breast enlargement (not true gynecomastia) –Neurofibroma –Carcinoma of breast –Hemangioma –Lipoma * Reifenstein syndrome * Kallmann syndrome * Liver cirrhosis Prevention [checkorphan.org]

[…] individuals and the prognosis is dependent on the severity of the symptoms Please find comprehensive information on Juberg Marsidi Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention [dovemed.com]

Evidence surrounding vaccination shows that prevented suffering and death from infectious diseases outweigh any adverse effects, immunization programs depend on public confidence to be effective. [wikivisually.com]

Syndromes Any change in this hormone release chain causes a lack of sex hormones and prevents normal sexual maturity. [sarcomacancer.org]

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