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]

It presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. [medical-dictionary.thefreedictionary.com]

• Transient Hypothyroidism

  […] is a rare congenital 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, [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]

• 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]

• Joint Stiffness

  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]

  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]

• 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]

• Foot Deformity

  Conservative management plan was implemented and consisted of physiotherapy, foot-ankle orthosis to correct foot deformity, especially on the left side, and knee orthosis to stabilise limbs axis during standing and walking. [hindawi.com]

• Hyperlaxity

  Joint hyperlaxity was also noticed, especially regarding both hips. The spine and pelvis were normal. [hindawi.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]

• Withdrawn

  The orthosis was withdrawn at age 12. After 11 years of observation, the patellar dislocation had evolved from reducible to permanent, inducing a femorotibial subluxation with tibia external rotation in flexion (Figure 1). [hindawi.com]

• 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]

• 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]

  Males with the SBBYS variant of Ohdo syndrome typically have undescended testes ( cryptorchidism ). Females with this condition have normal genitalia. [familydiagnosis.com]

  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]

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]

treatment versus the potential harms. [pneumologia.eu]

Who to See and Types of Treatments Available Superior vena cava syndrome is often experienced by patients with some types of cancer. [docdoc.com]

Cognitive-behavioral treatments for chronic pain: what works for whom? Clinical Journal of Pain, 2005. [psyjournals.ru]

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]

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]

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

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

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

(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. [medlineplus.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]