The present report highlights the pivotal role of clinical genetics in avoiding clear-cut genotype-phenotype categories in syndromic forms of intellectual disability. [ncbi.nlm.nih.gov]

• Multiple Congenital Anomalies

  Herein, we report the clinical and genetic findings in a girl presenting with a serious multiple congenital anomaly syndrome with phenotypic features overlapping both SBBYSS and GTPTS; pointing out that the clinical distinction between these disorders [ncbi.nlm.nih.gov]

  Subject: multiple congenital anomalies/mental retardation (MCA/MR) syndrome hypothyroidism blepharophimosis abnormal facies Ohdo syndrome Ohdo-like blepharophimosis syndrome Young-Simpson syndrome Country: EUA Editor: Lippincott Williams & Wilkins Citation [repositorio.unicamp.br]

• Transient Hypothyroidism

  "Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis". Am J Med Genet. 90 (1): 85–6. doi : 10.1002/(SICI)1096-8628(20000103)90:1 3.0.CO;2-R. PMID 10602125. [en.wikipedia.org]

  Tatsuro Kondoh, Eiichi Kinoshita, Hiroyuki Moriuchi, Norio Niikawa, Tadasi Matsumoto and Mitsuo Masuno, Young‐Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis, American Journal of Medical Genetics [doi.org]

• Fatigue

  The seven-time Grand Slam winner recalls feeling fatigue more than seven years ago, often going to the doctors but leaving experts baffled as to what was wrong. [dailymail.co.uk]

  Other symptoms included fatigue, weakness, hemoptysis and pleuritic chest pain. Significant weight loss was uncommon, but often indicated lymphoma complicating SS and pulmonary amyloidosis. [em-consulte.com]

• Atrial Septal Defect

  Seong-Hyop Kim, Tae-Yop Kim, Hwa Sung Jung, Joo-eun Kang, Chung Sik Oh, Duk Kyung Kim and Tae Gyoon Yoon, Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome - A case report -, Korean Journal of Anesthesiology [doi.org]

• Malnutrition

  Associated with this are malnutrition, failure to gain weight, frequent chest infections, and exhaustion. In the presence of a complete cleft, the tongue may cause respiratory problems by going through the cleft and into the nose. [emedicine.medscape.com]

• Macroglossia

  Genetic Summary Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome classically characterized by pre- and postnatal constitutional and organ overgrowth, macroglossia, omphalocele/umbilical hernia, facial nevus flammeus, hemihyperplasia, and [clincancerres.aacrjournals.org]

• Blepharoptosis

  Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) Name: Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) See more descriptions. - Blepharophimosis-mental [snomedbrowser.com]

  Ohdo Blepharophimosis Background Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities (see entry Learning disability ) associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis [contact.org.uk]

  Ohdo S, Madokoro H, Sonoda T et al : Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth. J Med Genet 1986; 23 : 242–244. 16. [nature.com]

  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet. 1986;23:242–4. [ncbi.nlm.nih.gov]

• Prolapse

  Mother [ edit ] Increased risk of perineal lacerations, pelvic organ prolapse, and incontinence. Increased risk of injury to vagina and cervix. Increased postnatal recovery time and pain. Increased difficulty evacuating during recovery time. [en.wikipedia.org]

• Joint Stiffness

  In SBBYS lower-extremity joint stiffness, long thumbs / great toes, immobile mask-like face, blepharophimosis/ptosis, and lacrimal duct anomalies are observed. [ncbi.nlm.nih.gov]

  Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). [familydiagnosis.com]

• Torticollis

  Manifestation of the Syndrome includes hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypothyroidism & even mental retardation & torticollis. [signssymptoms.org]

  […] disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation. [1] [2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis [en.wikipedia.org]

  Mental retardation and torticollis. Diagnosis: The diagnosis of Young-Simpson syndrome remains a clinical one and is usually made by a clinical geneticist on the basis of the physical features, after exclusion of other causes. [medigoo.com]

  Associated features are webbing of the neck, scoliosis, torticollis, and, occasionally, Sprengel deformity, which is displacement of one or both scapulae. In some cases, patients have mental retardation. [emedicine.medscape.com]

• Hearing Impairment

  impairment, and dental anomalies. [ncbi.nlm.nih.gov]

  SBBYSS is usually associated with severe mental retardation, delayed motor milestones, significantly impaired speech, hearing impairment, abnormal ears and growth retardation. Male patients may have cryptorchidism and scrotal hypoplasia. [medical-dictionary.thefreedictionary.com]

• Bulbous Nose

  Abstract In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low‐set ears and micrognathia [doi.org]

  This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. [medigoo.com]

  nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. [orpha.net]

  Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly [monarchinitiative.org]

• Prominent Cheeks

  Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), and abnormalities of the [familydiagnosis.com]

  SBBYS causes specific facial features, including prominent cheeks, a wide nasal bridge, and a nose with a rounded tip. SBBYS occurs in less than 1 in a million children. [diseaseinfosearch.org]

  Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear [medlineplus.gov]

  Other features that can be common in both GPS and SBBYSS include prominent cheeks, low-set and posteriorly rotated ears, downslanting palpebral fissures, flat broad nasal bridge, tubular/bulbous nose, long philtrum, thin upper lip, thin lip vermilion, [ncbi.nlm.nih.gov]

• Mask-like Facies

  Facial appearance is distinctive with a mask-like facies, blepharophimosis, and ptosis. [ncbi.nlm.nih.gov]

• Cryptorchidism

  Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. [ncbi.nlm.nih.gov]

  232‐8555, Japan Search for more papers by this author First published: 07 April 1999 Cited by: 9 Abstract Young‐Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism [doi.org]

  Manifestation of the Syndrome includes hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypothyroidism & even mental retardation & torticollis. [signssymptoms.org]

  Cryptorchidism in males. Mental retardation and torticollis. [medigoo.com]

  […] disability syndrome, Say-Barber-Biesecker-Young-Simpson syndrome This condition is inherited via autosomal dominant manner Young–Simpson syndrome ( YSS ) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism [en.wikipedia.org]

The clinical workup has been well summarised by Campeau and Lee considering major and minor criteria (Table 2) [3]. [hindawi.com]

• Delayed Bone Age

  The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene. [ncbi.nlm.nih.gov]

Treatment - Young Simpson syndrome There is no specific cure or treatment for Young-Simpson Syndrome, but a number of therapies may help at different stages of life. [checkorphan.org]

Treatment: There is no specific cure or treatment for Young-Simpson Syndrome, but a number of therapies may help at different stages of life. These include physiotherapy, occupational therapy and a detailed assessment of special educational needs. [medigoo.com]

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]

treatment versus the potential harms. [pneumologia.eu]

Prognosis - Young Simpson syndrome Not supplied. Treatment - Young Simpson syndrome There is no specific cure or treatment for Young-Simpson Syndrome, but a number of therapies may help at different stages of life. [checkorphan.org]

The prognosis for patients with super vena cava syndrome can be affected by many factors. However, it is highly dependent on the effectiveness of methods used to treat underlying conditions. [docdoc.com]

The best treatment algorithm remains to be defined and the prognosis appears to be poor. Treatment Treatment and prognosis of airway disease in SS have yet to be defined. [em-consulte.com]

Schridde's syndrome A fetal placental erythroblastosis syndrome with poor prognosis for survival. [babymed.com]

Each variable should correlate independently with the prognosis of COPD, should be easily measurable, and should serve as a surrogate for other potentially important variables. [nejm.org]

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

BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the etiology of BMR disorders. [genome.jp]

(Class I, LOE C-LD) The same anticonvulsant regimens for the treatment of status epilepticus caused by other etiologies may be considered after cardiac arrest. [eccguidelines.heart.org]

However, Toriello-Carey syndrome is etiologically heterogeneous as different genetic alterations have been identified in individuals who are clinically suspected of having this disorder (various chromosomal deletions and pathogenic variants in PGAP3, [ncbi.nlm.nih.gov]

The presence of a pleural effusion should prompt a further evaluation for the underlying etiology. [em-consulte.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.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]

Group Professor of Ophthalmic Epidemiology Professor Mingguang He Surgery PARTY (Prevention Access Risk Taking in Young People) Deputy Head of Department Assoc Prof Lena Sanci General Practice Petrovski Laboratory: Computational Genomics Group Leader [medicine.unimelb.edu.au]

Depressive disorders in restless legs syndrome: epidemiology, pathophysiology and management. CNS Drugs, 2010. [psyjournals.ru]

Epidemiological studies showed that the prevalence of overlapping diagnoses increased in older populations ( 10 – 12 ). [shortnessofbreath.it]

Depressive disorders in restless legs syndrome: epidemiology, pathophysiology and management. CNS Drugs, 2010. [psyjournals.ru]

Most studies support a large difference in the pathophysiology of bronchial asthma and chronic obstructive pulmonary disease (COPD). [shortnessofbreath.it]

Definitions, epidemiology, pathophysiology, diagnosis, and staging. Am J Respir Crit Care Med 1995 ;152: Suppl : S78 - S83 4. Siafakas NM, Vermeire P, Pride NB, et al. [nejm.org]

Pathophysiologically, this may reflect contiguous clonal cells arising locally and excreting light chains. Pulmonary AA amyloidosis has also been associated with SS, without evidence of amyloid deposition elsewhere [ 19, 99 ]. [em-consulte.com]

Post-cardiac arrest syndrome: epidemiology, pathophysiology, treatment, and prognostication. [eccguidelines.heart.org]

Prevention - Young Simpson syndrome Not supplied. Diagnosis - Young Simpson syndrome Diagnosis of Young-Simpson syndrome is usually made by a clinical geneticist on the basis of the physical features, after exclusion of other causes. [checkorphan.org]

The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. [ghr.nlm.nih.gov]

This includes both screenings and preventative care. This is accomplished through weight checks, listening to your baby’s heartbeat, routine blood work, and more. [verywell.com]

Chemotherapy drugs work by killing cancer cells or preventing them from growing. If the tumour is not responding well to chemotherapy, radiation therapy, which uses high-energy x-rays to kill cancer cells, is recommended. [docdoc.com]