The condition 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. [uniprot.org]

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]

Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. [orpha.net]

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]

• Disability

  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]

  […] of the upper eye lids (ptosis) and intellectual disability. [rarediseases.org]

  Young-Simpson (SBBYS) type of the blepharophimosis-mental retardation syndrome group (Ohdo-like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the palpebral fissures, ptosis, intellectual disability [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Blepharophimosis-intellectual disability syndrome, SBBYS type Disease definition Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism [orpha.net]

• 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]

  Disease definition A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and [orpha.net]

• Surgical Procedure

  Against common beliefs at the time, Simpson advocated in favor of using anesthetics for pain-free labor, which later became the standard for surgical procedures and childbirth. [embryo.asu.edu]

  Spencer has had over two dozen surgical procedures, and has a few more that will need to be performed in the future. Ohdo Syndrome has wreaked havoc on his little body, and he has had to have a lot of repair work done. [complexchild.org]

  One patient finally underwent a surgical procedure aiming to optimise his walking and standing function. We have no records of earlier publication on any of the two cases. 2. Case Presentation 2.1. [hindawi.com]

• Infertility

  Klinefelter’s syndrome in the male infertility clinic. Hum Reprod 1999;14:946-52. Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. [saripediatri.org]

  As a result, they are infertile. "There are several prominent actresses today in America -- I can't reveal their names -- who have CAIS," said Spack. "They are mothers with adopted children and they are women, of course." [abcnews.go.com]

  Mulibrey ( mu scle, li ver, br ain, and ey e) nanism is a rare, autosomal recessive growth disorder with prenatal onset that includes severe growth retardation, distinct dysmorphic features, constrictive pericarditis, hepatomegaly, male infertility, insulin [clincancerres.aacrjournals.org]

  The association of chronic pulmonary disease and infertility in man has been observed in several instances (Young syndrome, cystic fibrosis, Kartagener syndrome, and primary ciliary dyscinesia). [archbronconeumol.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]

  Similar to other studies, fatigue/muscular weakness was the most commonly reported symptom (63%), followed by sleep difficulties (26%) and anxiety/depression (23%). [nature.com]

  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]

• Nausea

  While you may have a bit of nausea in the first weeks of the trimester, most of this will dissipate before too long. You may also have a lot more energy now than in the first trimester. [verywell.com]

  Protocols to provide nutritional support for patients (many of whom suffered from respiratory distress, nausea, diarrhea and anorexia, with resultant reduction in food intake) continue to be refined220. [nature.com]

• Diarrhea

  Clinical presentations of MIS-C include fever, abdominal pain, vomiting, diarrhea, skin rash, mucocutaneous lesions, hypotension and cardiovascular and neurologic compromise205,206. [nature.com]

• Macroglossia

  Simpson-Golabi-Behmel syndrome is characterized by: polyhydramnios neonatal recurrent hypoglycemia 6 facial deformities, including cleft lip and palate 9, macrostomia, macroglossia and dental malocclusion 12 hepatosplenomegaly multicystic dysplasia of [radiopaedia.org]

  Airway abnormalities including macroglossia, cleft lip and palate, high-arched palate, jaw abnormalities and short neck have been described in the literature (3). The syndrome is associated with a typical facial appearance. [go.gale.com]

  People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle [encyclopedia.pub]

  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]

• Large Hand

  HAND OF GOD WATER TANK A water tank made to look like a large hand holding a soccer ball stands on the roof of a house in the La Cumbre neighborhood on the outskirts of La Plata, recalling the famous goal Diego Maradona scored with his hand against England [tulsaworld.com]

  […] of the penis instead of at the tip (hypospadias) Testes that do not descend properly and are still inside the body (cryptorchidism) Skeletal Abnormalities of the hands and feet Broad thumbs Extra fingers or toes (polydactyly) Large hands Short fingers [rarediseases.org]

  At puberty, however, the build-up of testosterone can result in long legs, large hands and strong muscles that aid athletic ability — all of which Wallis possessed. [dailymail.co.uk]

  Hand anomalies can include large hands and postaxial polydactyly. Physical features distinguishing SGBS from BWS are ocular hypertelorism, a large mouth, coarse facial features, supernumerary nipples, and persistent overgrowth throughout life. [clincancerres.aacrjournals.org]

• Erythema

  Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Symptoms may be present from birth or appear in early childhood. [rarediseases.org]

• Skin Disease

  If an individual receives one normal gene copy and one abnormal gene copy for the disease, the person will be a carrier for the disease, but usually will not show symptoms. [rarediseases.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]

  Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of [rarediseases.oscar.ncsu.edu]

  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]

• Visual Impairment

  Cortical visual impairment, optic atrophy or hypoplasia has also been described. Myopia and amblyopia are common. Telecanthus, epicanthus inversus, and hypertelorism are also sometimes noted Skeletal features. [ncbi.nlm.nih.gov]

• 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]

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

• Suggestibility

  One group suggests that is through an autosomal recessive inheritance while another group says its is not. [medigoo.com]

  These results suggest ASD may be a clinical feature of SBBYSS. [ncbi.nlm.nih.gov]

  Autosomal recessive inheritance has been suggested. [monarchinitiative.org]

  One group suggests that is is through an autosomal recessive inheritance while another group says its is not. Search Related To: young, simpson, syndrome [signssymptoms.org]

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

About GoMedii: GoMedii is a Healthcare Technology Platform That Works Out Your Treatment / Surgery the Way You Need & Plan. A Treatment partner that simplifies the patient journey at every step. [gomedii.com]

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 versus the potential harms. [pneumologia.eu]

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]

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

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]

Prognosis Whilst there is limited data regarding life expectancy, adult patients are reported and there are no known reasons to suspect reduced life expectancy. [orpha.net]

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]

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]

Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. [e-arm.org]

(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]

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]

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]

Summary Epidemiology Although the prevalence of the disorder is unknown, it is thought to be less than 1/1,000,000. [orpha.net]

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]

Potential mechanisms contributing to the pathophysiology of post-acute COVID-19 include: (1) virus-specific pathophysiologic changes; (2) immunologic aberrations and inflammatory damage in response to the acute infection; and (3) expected sequelae of [nature.com]

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]

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]

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]

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]

GPC3 gene mutations prevent glypican 3 from inhibiting the hedgehog signaling pathway. The resulting overactivity of this pathway leads to an increased rate of cell growth and division starting before birth. [encyclopedia.pub]