The heterozygous boy presented only unilateral complex polysyndactyly and we hypothesize that he either presents a distinct defect or that his phenotype results from a rare, mild clinical manifestation of the variant in heterozygous state. [ncbi.nlm.nih.gov]

The lesions are usually present at birth or appear in early childhood, and they tend to increase in size and frequency with age. [ajnr.org]

A unique presentation of abnormal body posture seen in approximately 5-10% of post-stroke patients [1], [2]. [physio-pedia.com]

• Short Stature

  HP:0001159 10 preaxial polydactyly 31 HP:0100258 11 postaxial polydactyly 31 HP:0100259 Symptoms via clinical synopsis from OMIM®: 57 (Updated 05-Apr-2021) Growth Height: short stature Skeletal Hands: brachydactyly syndactyly preaxial polydactyly postaxial [malacards.org]

  Overview A very rare inherited disorder characterized mainly by mental retardation, short stature and congenital hip dislocation. [checkorphan.org]

  Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease. [genome.jp]

  Child with 115 cm, 29 kg, BMI: 22 and short stature. FC: 52, TSH> 100, IO 4–5 years. Treatment with levothyroxine, TSH normalize and child thinned, antibodies. [endocrine-abstracts.org]

  […] foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club [rarediseases.info.nih.gov]

• Recurrent Respiratory Infections

  respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Seizure 0001250 Short stature Decreased body height Small stature [ more [rarediseases.info.nih.gov]

• Unable to Stand

  Ultimately, though, this was a failure of the state – unable to stand up not just to Isabel dos Santos, but to her brother, Zenu dos Santos, and several other billionaires who used Angola as a playground for self-enrichment. [theguardian.com]

• Bruxism

  Seizure 0001250 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Bruxism [rarediseases.info.nih.gov]

• Small Hand

  […] body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 X-linked inheritance 0001417 [rarediseases.info.nih.gov]

• Low Nasal Root

  […] bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux [rarediseases.info.nih.gov]

• No Speech Development

  Showing of 21 | 5%-29% of people have these symptoms Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development [rarediseases.info.nih.gov]

• Absent Kidney

  kidney on one side Missing one kidney Single kidney [ more ] 0000122 Showing of 6 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

However, patients with FM could observe occasional muscle fasciculations and may present for diagnostic workup of neuromyotonia. [journals.lww.com]

The treatment of OSAHS should be approached as the treatment for a chronic disease, requiring a long-term multidisciplinary management. [medichub.ro]

Mortality rates are high, even with proper treatments, and can reach up to 50%, usually within the first two months of the diagnosis. [bloodjournal.org]

We know from our own experience and can prove as IVF patients that high-quality Donor IVF treatment abroad doesn't have to break the bank. Your reason for travelling abroad for treatment may not just be about saving money. [eggscursion.com.au]

Treatment for EDS Treatment isn’t widely available. For most patients treatment is limited to medications that control the symptoms listed above. [ehlersdanlossyndrome.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis - Stocco dos Santos syndrome Not supplied. Treatment - Stocco dos Santos syndrome Not supplied. Resources - Stocco dos Santos syndrome Not supplied. [checkorphan.org]

The prognosis is poor, recurrences are frequent, and the mortality rate is 60-70%. Autosomal dominant HUS often occurs in adults, who have a poor prognosis. The risk of death or ESRD is 50-90%. [emedicine.medscape.com]

Treatment and prognosis Prognosis of anterior cord syndrome is worst among all other spinal cord injury syndromes 5. It is associated with high mortality and poor functional outcome in terms of poor recovery of motor power and coordination. [radiopaedia.org]

The prognosis for central pain syndromes is poor with no spontaneous resolution of symptoms. [academic.oup.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Ventral cord syndrome encompasses all causes of damage to the anterior spinal cord regardless of etiology (see below). [radiopaedia.org]

[…] primary cases, although genetic and endocrinologic factors are suspected to participate in the etiology. [emedicine.medscape.com]

The search terms that were used related to the subject groups of interest: Down syndrome and mental retardation; the oral condition: gingivitis, periodontitis, periodontal disease, gingiva, periodontium, tooth loss; etiological factors: microbiological [intechopen.com]

Boudoulas H: Mitral valve prolapse: etiology, clinical presentation and neuroendocrine function. J Heart Valve Dis 1992;1:175-188. [karger.com]

The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome. [jaoa.org]

Journal of Clinical Epidemiology 49, 1372–1379 (1996)CrossRefGoogle Scholar 17. [link.springer.com]

Epidemiology of staphylococcal scalded skin syndrome in Germany. J Invest Dermatol. 2005;124:700-703. http://www.ncbi.nlm.nih.gov/pubmed/15816826 Patel GK, Finlay AY. Staphylococcal scalded skin syndrome: diagnosis and management. [rarediseases.org]

Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 2000; 283 : 2008–2012. 25. Panagioti M, Gooding PA, Tarrier N. [nature.com]

The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. [tihcij.com]

[2] Overview Cassia Stocco dos Santos syndrome is autosomal recessive disease with characteristic features of anophthalmia, megalocornea, cardiopathy and skeletal anomalies with the age of onset of infancy and neonates and the prevalence rate of [1] Pathophysiology [wikidoc.org]

The pathophysiology of OSAHS is responsible for the signs, symptoms and consequences, and is represented by repetitive episodes of collapse of the upper airway. [medichub.ro]

Surgical inspection of the mitral valve at the time of surgery has contributed to the etiology, pathophysiology and imaging principles already mentioned, and provided the basis for new types of in vivo clinical pathophysiological correlates [ 1, 2 ]. [karger.com]

Overweight in children and adolescents, pathophysiology, consequence, prevention, and treatment. Circulation 2005;111:1999-2012. Suryaputra K, Nadhiroh SR. Perbedaan pola makan dan aktivitas fisik antara remaja obesitas dengan non obesitas. [jurnal.ugm.ac.id]

Pathophysiology Lowe syndrome is caused by a mutation of the OCRL1 gene mapped to the chromosomal locus of Xq26.1. [2] The gene encodes a phosphatidylinositol (4,5) bisphosphate 5 phosphatase, localized to the trans-Golgi complex involved in actin polymerization [emedicine.medscape.com]

Prevention - Stocco dos Santos syndrome Not supplied. Diagnosis - Stocco dos Santos syndrome signs and symptoms of Stocco dos Santos syndrome may vary on an individual basis for each patient. [checkorphan.org]

The patient should be monitored at all times to prevent dangerous aneurisms and cardiac trouble. [ehlersdanlossyndrome.org]

Therefore, immediate action is necessary to lessen or prevent the damage height and provide psychological support to children and parents in order to avoid major behavioral disorders. [endocrine-abstracts.org]

While the boy was later found in the mall’s vicinity, it served as a lesson that more initiatives need to be done to prevent the same thing from happening again. [philstar.com]

Only about 20% of patients with Zika infections develop symptoms, according to the Centers for Disease Control and Prevention. [usatoday.com]