Symptoma

Ray-Peterson-Scott Syndrome

Ray Peterson Scott Syndrome

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

At present at least nine different types of amyoplasia are recognized. [scoliosisjournal.biomedcentral.com]

At maturity a bony connection is present between the shaft and head of femur but in some cases pseudarthrosis is present in the femoral neck which does not heal Class B: Femoral head is present in an adequate acetabulum, the femur is short, usually a [flinders.edu.au]

A syndromic form of AMC is suspected when developmental delays and/or other congenital anomalies are present, and such patients should be evaluated for CNS disorders and monitored for progressive neurologic symptoms. [msdmanuals.com]

Case Presentation A less than-one-year-old female was presented to Farahmandfar Hospital (Shiraz, Iran) with concern of AMC. [thritajournal.com]

  • Physician

    In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

    We are dedicated to providing quality, compassionate care for patients and their families and have brought together a team of specialized physicians that applies the latest research and technologies in the treatment of musculoskeletal disorders. [hopkinsmedicine.org]

    Some physicians perform this in an orthopedist office with local anesthesia (such as lidocaine), but most of the surgeons at Nationwide Children's Hospital complete this in the operating room under general anesthesia (fully asleep). [nationwidechildrens.org]

    This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis. [wikidoc.org]

  • Dysostosis

    Orpha Number: 2840 Disease definition Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures [rarediseases.info.nih.gov]

    Acrodysostosis Acrodysostosis with multiple hormone resistance Acrodysplasia scoliosis Acrofacial dysostosis Acrofacial dysostosis, Catania type Acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez [se-atlas.de]

    Q75.4 Mandibulofacial dysostosis Q75.5 Oculomandibular dysostosis Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. [icd10data.com]

    Breaking down the name, " craniofacial " refers to the skull and face, and "dysostosis" refers to synostosis (a union between adjacent bones or parts of a single bone). [wikidoc.org]

    Formerly called “dysostosis” to emphasize the regional nature of anomalies of the head and shoulder. [musculoskeletalkey.com]

  • Pallister-Hall Syndrome

    […] dysplasia Multiple pterygium syndrome (Escobar syndrome) Multiple synostoses syndrome (facio-audio-symphalangism) Myhre syndrome Nail-patella syndrome Neu-Laxova syndrome Oligohydramnios sequence Oto-palato-digital syndrome type I Pachydermoperiostosis Pallister-Hall [rrnursingschool.biz]

    Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall [se-atlas.de]

  • Difficulty Walking

    walking Prognosis May live many years Early degenerative joint disease develops Death may occur before the age of 20 due to chest infections or cardiac complications 2. [flinders.edu.au]

  • Hip Dislocation

    dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Sacrococcygeal pilonidal abnormality 0010767 Spina bifida occulta 0003298 Percent of people who have these symptoms is not available through HPO Arthrogryposis multiplex congenita 0002804 [rarediseases.info.nih.gov]

    HP:0003202 4 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376 5 hypoplastic pelvis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008839 6 slender long bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003100 7 hip [malacards.org]

    […] congenita. - A plan of management and treatment results in the arthrogrypotic hip. - Management of hip dislocations in children with arthrogryposis. - Medial approach open reduction of hip dislocation in amyoplasia type arthrogryposis. - Surgical management [wheelessonline.com]

    Congenital dislocation of the knee is 100 times less common than the congenital hip dislocation. [boneandspine.com]

    Keywords Arthrogryposis Knee Dislocation Hip Dislocation Copyright 2014, Thrita. [thritajournal.com]

  • Joint Limitation

    Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slender long bone Long bones slender Thin long bones [ more ] 0003100 30%-79% of people have these symptoms Blue [rarediseases.info.nih.gov]

  • Blue Sclera

    sclerae 60 33 frequent (33%) Frequent (79-30%) HP:0000592 10 sacrococcygeal pilonidal abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0010767 11 arthrogryposis multiplex congenita 33 HP:0002804 Clinical features from OMIM: 602484 MalaCards organs [malacards.org]

    […] joints Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slender long bone Long bones slender Thin long bones [ more ] 0003100 30%-79% of people have these symptoms Blue [rarediseases.info.nih.gov]

    sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone fragility Often intrauterine or neonatal death III (Rare) Congenita (tarda) Autosomal [flinders.edu.au]

    Download a 200K clip of achondrogenesis Osteogenesis imperfecta is a genetically heterogeneous group of disorders presenting with fragility of bones, blue sclerae, loose joints and growth deficiency. [sonoworld.com]

    Type I collagen is the principal structural protein of bone, dentin, and sclera, hence the association (and clinical subclassification) of osteogenesis imperfecta with dentinogenesis imperfecta and blue sclerae. [musculoskeletalkey.com]

  • Depressed Nasal Bridge

    nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280 3 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202 4 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376 5 hypoplastic pelvis [malacards.org]

    Showing of 11 80%-99% of people have these symptoms Depressed 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 Gait disturbance Abnormal [rarediseases.info.nih.gov]

    Diseases related with Depressed nasal bridge and Falls In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Falls that can help you solving undiagnosed cases. [mendelian.co]

    The characteristic features of heterozygous achondroplasia include short limbs, lumbar lordosis, short hands and fingers, macrocephaly with frontal bossing and depressed nasal bridge. [sonoworld.com]

    If COL11A1 on Ch1, called Marshall's syndrome Feats: - orofacial dysmorphism (flat midface, depressed nasal bridge, short nose with anteverted nares, Pierre Robin sequence) - ophthalmologic abNs (AbN architecture of the vitreous gel, high myopia, frequently [quizlet.com]

  • Low Nasal Root

    Showing of 11 80%-99% of people have these symptoms Depressed 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 Gait disturbance Abnormal [rarediseases.info.nih.gov]

  • Abnormal Gait

    gait Abnormal walk Impaired gait [ more ] 0001288 Hypoplastic pelvis 0008839 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Skeletal muscle atrophy Muscle [rarediseases.info.nih.gov]

    abnormal gait Browse Doctors achilles tendonitis Our Approach Browse Doctors achilles tendon rupture Browse Doctors achondroplasia Our Approach Browse Doctors ankle arthritis Our Approach Browse Doctors ankle injuries Browse Doctors ankylosing spondylitis [nyulangone.org]

[…] dislocations, esp knees); - Pena Shokeir syndrome (growth deficiency, unusual facial features, multiple ankylosis; - camptodactyly (when only a finger is involved); - talipes equinovarus; - congenital myasthenia gravis; - whistling face syndrome; - Initial Workup [wheelessonline.com]

Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. [books.google.com]

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]

Siebold recommends conservative treatment with a body jacket when scoliosis is detected at an early age, but the treatment outcomes are unpredictable [22]. Y.H. [journals.eco-vector.com]

Treatment for Clubfoot In the past, very few treatments were available to correct this condition. Over the last century, advances have been made in non-operative treatments, such as casting and bracing as well in surgical techniques. [nationwidechildrens.org]

Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1. [flinders.edu.au]

Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year. [patient.info]

Prognosis There is still little literature available about the prognosis of patient with arthrogryposis. The search for a prognostic factor is difficult, because of the small number of patients. [monsterologist.blogspot.com]

Prognosis: Life expectancy in these children is normal. Intelligence is not restricted. Neurological complications, especially involving the cervical spine, are common. [radiologykey.com]

The perinatal mortality for some of the underlying conditions is as high as 32%, so establishing a specific diagnosis is important for prognosis and genetic counseling. [msdmanuals.com]

The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop Relat Res. 1985;(194):15-29. Kowalczyk B, Feluś J. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci. 2016 Feb 1;12(1):10-24. [now.aapmr.org]

Surgical treatments deformations there are delicate, with poorer results than in idiopathic etiology. [omicsonline.org]

Etiology Arthrogryposis is multifactorial in etiology. Factors liable to produce immobility of the fetus in-utero may contribute to congenital contractures. [orthopaedicsone.com]

Table 674-1 ASSOCIATED ETIOLOGIES OF ARTHROGRYPOSIS ARTHROGRYPOSIS DUE TO NERVOUS SYSTEM DISORDERS DISTAL ARTHROGRYPOSIS SYNDROMES PTERYGIUM SYNDROMES MYOPATHIES ABNORMALITIES OF JOINTS AND CONTIGUOUS TISSUE SKELETAL DISORDERS INTRAUTERINE AND MATERNAL [clinicalgate.com]

Action of head against acetabulum INDUCES spherical ‘ball’ in spherical ‘socket’ Neonate pelvis mostly cartilage; fetal hip flexion limited XR landmarks, measurements ETIOLOGIES: Some genetic/ethnic influence/tendency (Native American, Lapp, etc.) [teamrads.com]

"Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers". European Journal of Obstetrics & Gynecology and Reproductive Biology. 159 (2): 347–50. doi : 10.1016/j.ejogrb.2011.09.027. [en.wikipedia.org]

Epidemiology It may occur to some extent in 1 in 3,000 to 1 in 5,000 live births. [ 3 ] The condition is usually detected at birth or before by ultrasound examination. It is often secondary to other conditions. [patient.info]

Epidemiology Arthrogryposis is a rare condition. Some authors say the overall prevalence is one in 3000 and others say it is one in 11000-12000 among European live births. [monsterologist.blogspot.com]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

Introduction Epidemiological data suggested that cases of microcephaly in Brazil might be associated with the introduction of the Zika virus. 1 One study detected Zika virus genome and anti-Zika virus IgM in the amniotic fluid of pregnant women with microcephalic [bmj.com]

Patho-anatomy/physiology The pathophysiology is related to the specific type of arthrogryposis. Exact mechanisms are not well understood in some subtypes of arthrogryposis. [now.aapmr.org]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

[…] associated with congenital Zika virus infection Tests to evaluate arthrogryposis were consistent with a neurogenic pattern, with electromyelographic findings and spinal magnetic resonance imaging suggesting involvement of the lower motor neurones The pathophysiology [bmj.com]

Tips on Preventing Concussions (Video. 2:56) Dr. Richard Ellenbogen offers tips for preventing concussions in children. Learn more about concussions at Seattle Children’s. [seattlechildrens.org]

Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology. [patient.info]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

MR : pre- and post-op uses; evaluates cartilage, labrum, ligamentum teres, soft tissue abnormalities such as thickened ligamentum teres, hypertrophic pulvinar (fibrofatty debris preventing reduction of head into acetabulum), or folded/abnormal labrum [teamrads.com]

The knee is in extension and gets further compressed into recurvatum by uterine compression which also is responsible for prevention of flexion. [boneandspine.com]