Symptoma

Santos Syndrome

Fibular Agenesis / Hypoplasia - Oligodactylous Clubfeet - Anonychia / Nail Hypoplasia Syndrome

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

    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]

    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 foot Clubfeet Clubfoot [ more ] 0001762 X-linked [rarediseases.info.nih.gov]

  • Short Stature

    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]

    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 foot Clubfeet Clubfoot [ more ] 0001762 X-linked [rarediseases.info.nih.gov]

  • 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]

  • Strabismus

    […] head circumference [ more ] 0000252 Scoliosis Abnormal curving of the spine 0002650 Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus [rarediseases.info.nih.gov]

    Amblyopia may occur secondary to poor compliance with treatment and secondary strabismus. Corrected visual acuity is infrequently better than 20/70 despite optimal management. [emedicine.medscape.com]

  • Hirsutism

    0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism [rarediseases.info.nih.gov]

  • Hip Dislocation

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

    dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism Excessive hairiness 0001007 Hyperactivity More active than typical 0000752 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability, profound IQ [rarediseases.info.nih.gov]

  • Decrease in Height

    […] 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]

  • Small Hand

    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 Showing of 21 Last updated: 7/1/2019 Making [rarediseases.info.nih.gov]

  • Brachydactyly

    […] family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly [ncbi.nlm.nih.gov]

    Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. Hum. Mol. Genet. 20, 271–285 (2011). 33. Al-Qattan, M. M. [nature.com]

  • Skeletal Dysplasia

    Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease. [books.google.com]

    A new autosomal recessive skeletal dysplasia syndrome—prenatal diagnosis and histopathology. Prog. Clin. Biol. Res. 104, 519–524 (1982). 7. Pfeiffer, R. A., Stöss, H., Voight, H. J. & Wündisch, G. F. [nature.com]

  • Hypertelorism

    Hirschsprung's disease with renal agenesis, polydactyly, hypertelorism, deafness, megacolon [medical-dictionary.thefreedictionary.com]

    Home Diseases Santos Mateus Leal syndrome Title Other Names: Hirschsprung disease, deafness and polydactyly; Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness This table lists symptoms [rarediseases.info.nih.gov]

  • Low Nasal Root

    nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of [rarediseases.info.nih.gov]

  • Depressed Nasal Bridge

    nasal 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 [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]

  • Hyperactivity

    Disease Name Stocco dos Santos X-linked mental retardation syndrome Supergrp Syndromic X-linked mental retardation [DS: H00658 ] Description Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity [genome.jp]

    […] eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism Excessive hairiness 0001007 Hyperactivity [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]

  • Learning Difficulties

    difficulties get into sport. [whoateallthepies.tv]

  • Apraxia

    Apraxia affects her physical movement. [gofundme.com]

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

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

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

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]

Epidemiology of staphylococcal scalded skin syndrome in Germany. J Invest Dermatol. 2005;124:700-703. Patel GK, Finlay AY. Staphylococcal scalded skin syndrome: diagnosis and management. Am J Clin Dermatol. 2003;4:165-175. [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]

Studies on MS in Brazil are new, and in the Amazon, its epidemiological behavior is still unknown. [journals.plos.org]

[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]

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]

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