TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Not applicable. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Not applicable. 2.3 Clinical sensitivity [doi.org]

The present report expands the phenotypic spectrum of 3-M syndrome. [ncbi.nlm.nih.gov]

Clinical description Infants present with severe postnatal (and prenatal) growth retardation, usually associated with a low birth weight ( Etiology Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). [orpha.net]

• Short Stature

  From Wikidata Jump to navigation Jump to search autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia [wikidata.org]

  These findings may provide a new understanding of the clinical diversity and pathogenesis of short stature syndrome with CUL7 mutation. [scienceopen.com]

  Individuals with short stature can be benefitted through the use of adaptive aids and physiotherapy. [dovemed.com]

  Unlike many other short stature conditions, 3-M syndrome is associated with normal intelligence and development. [3msyndrome.wordpress.com]

• Male Hypogonadism

  Male hypogonadism and hypospadias can be associated, although not always. [ncbi.nlm.nih.gov]

  Male hypogonadism and hypospadias. [doi.org]

• Infertility

  Male infertility due to immobile spermatozoa and decreased fertility in females may also occur. Examination Findings may include dextrocardia and situs inversus, asplenia, nasal polyps, rhinitis, corneal abnormalities and conductive deafness. [patient.info]

  Males with three M syndrome may be infertile. Other family members. Each sib of the proband 's parents is at a 50% risk of being a carrier of a CCDC8, CUL7, or OBSL1 pathogenic variant. [ncbi.nlm.nih.gov]

• Surgical Procedure

  During this surgical procedure the upper curve of the stomach (fundus) is wrapped around the lower portion of the esophagus. This procedure strengthens the valve (sphincter) between the esophagus and stomach and helps prevent acid reflux. [rarediseases.org]

  Surgical procedures: Examination of mucous membrane is the gold standard investigation. This is best obtained when the patient is not acutely ill, as ciliary morphology or function may be affected. [patient.info]

  Sometimes a surgical procedure is performed, where a tube is passed into a patient's stomach through the abdominal wall (PEG, percutaneous endoscopic gastrostomy). [socialstyrelsen.se]

  N=5002385+8709318+8711017+3294857497&rt=r3 Electronics From customer service to airplanes to surgical procedures, the world continues to become more automated. Software and electronics are at the forefront of the revolution. [solutions.3m.com]

  Preventing Hypoglycemia in Surgical/Laboratory Procedures: As we have said previously, SRS children generally do poorly with fasting of any amount greater than they would on a regular day. [silverrussellsyndrome.org]

• Collapse

  You can roll up to the tournament, pull out your minis, collapse this thing and tuck it under the table. [spikeybits.com]

  […] patient with crushed ice bags - stop as soon as the core temperature reaches 37 °C to avoid hypothermia in case of cardiac rhythm disorders - use antiarrhythmic drugs according to the usual algorithms except anticalcic drugs (risk of cardiovascular collapse [sites.uclouvain.be]

  Her chest X-ray showed a narrow thoracic cage in addition to features of lung collapse. Investigation The index patient's bone age showed a 2-year delay. His growth hormone (GH) peak on a glucagon stimulation test was 9.6 μg/l (cut off: 10 μg/l). [edmcasereports.com]

  This process results in narrowing of the artery and then arterial collapse or thrombosis. The tissue then becomes ischemic. Years after the onset of skin changes, fibrosis usually subsides, leaving atrophic skin. [emedicine.medscape.com]

• Failure to Thrive

  Growth and puberty : Failure to thrive is very common in children with RSS, due to a combination of feeding difficulties and gastrointestinal problems, such as reflux. [rarediseases.org]

  These infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. As these babies grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed. [fpwr.org]

  Other syndrome we must think foetal alcohol syndrome [FAS] [ 17, 18 ] usually have intrauterine growth retardation, microcephaly, failure to thrive, and often triangular faces. [omicsonline.org]

  […] to thrive and growth retardation”. [hkmj.org]

• Diarrhea

  Recurrent diarrhea and skin boils (culture showed growth of Staphylococcus aureus ) were the predominant clinical manifestations, with increased leukocyte count and eosinophilia. [jpgmonline.com]

  The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). [medlineplus.gov]

  Just as with SARS, MERS causes both respiratory and gastrointestinal infections, which are accompanied by cough, diarrhea, and vomiting. Just as with SARS, a variety of aerosol-generating healthcare procedures may be used to treat MERS patients. [cidrap.umn.edu]

• Ear Fullness

  Full eyebrows Upturned nose with a fleshy tip Philtrum - a greater distance between the nose and mouth Prominent mouth, full lips Abnormal formation of the teeth Short, broad neck and chest; prominent shoulders Abnormal spinal curvature such as: Kyphoscoliosis [dovemed.com]

  Other common features include large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth (philtrum), a prominent mouth, and full lips. [medlineplus.gov]

  Other common features include large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth ( philtrum ), a prominent mouth, and full lips. [ghr.nlm.nih.gov]

  Affected patients usually have a triangle-shaped face with a pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, long philtrum, and a prominent mouth with full lips. [ijponline.biomedcentral.com]

• Short Fifth Finger

  Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. [ncbi.nlm.nih.gov]

  Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. [healthetreatment.com]

  Affected individuals may have permanent fixation of certain fingers in a bent position (clinodactyly), abnormally short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. [rarediseases.org]

• Dolichocephaly

  Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks [healthetreatment.com]

  Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface) and certain radiological abnormalities. [cags.org.ae]

  Other findings include dolichocephaly, flattening of the forehead due to fusion of the coronal sutures, narrowed interorbital distance, elbow dysplasia, shortened ulna, pseudo-epiphyses of the second metacarpal bone, clinodactyly of the little fingers [ncbi.nlm.nih.gov]

• Winged Scapula

  Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. [ncbi.nlm.nih.gov]

  Other features commonly associated with 3-M syndrome are a short neck, winged scapulae, short thorax, transverse chest groove, hyperlordosis, developmental dysplasia of the hip and spina bifida occulta. [3msyndrome.wordpress.com]

  Short broad neck and thorax, prominent trapezii, winged scapulae, square shoulders, hyperlordosis and clinodactyly of the fifth finger are seen in some children. Prominent fleshy heels in infancy are a common and distinctive feature. [orpha.net]

• Arthritis

  Arthritis Rheum. 2003 May. 48(5):1190-9. [QxMD MEDLINE Link]. Sjogren RW. Gastrointestinal motility disorders in scleroderma. Arthritis Rheum. 1994 Sep. 37(9):1265-82. [QxMD MEDLINE Link]. [emedicine.medscape.com]

  [email protected] Restricted Growth Association PO Box 1024 Peterborough, Intl PE1 9GX United Kingdom Tel: 0300 111 1970 Fax: 0300 111 2454 Email: [email protected] Internet: http://www.restrictedgrowth.co.uk NIH/NationaI Institute of Arthritis [healthmedicinet.com]

  Children with short stature can also be treated with recombinant growth hormone Use of joint laxity should help in controlling the development of arthritis Males with this disease should undergo endocrinological evaluation for associated hypogonadism [dovemed.com]

  Significant joint laxity should prompt orthopedic evaluation and measures to control the development of arthritis. Males with three M syndrome should be referred for endocrinologic evaluation regarding gonadal function at puberty. [ncbi.nlm.nih.gov]

• Severe Short Stature

  Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. [scienceopen.com]

  Based on genetic studies in children with severe short stature of unknown etiology it has been suggested that monogenic causes of short stature are underdiagnosed in the pediatric endocrine clinic. [blueprintgenetics.com]

• Frontal Bossing

  bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more [ctgt.net]

  Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks [healthetreatment.com]

  Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface) and certain radiological abnormalities. [cags.org.ae]

  Figure 2: Relative Macrocephaly, Triangular Face, Frontal Bossing, Down Turning Corner Of The Mouth Discussion Silver Russell syndrome was first described in 1953 by Silver et al. and has clinically and genetically heterogeneous disease characteristics [omicsonline.org]

• Thick Lips

  All have long triangular faces with pointed chins, but other features may be present such as thick lips, large ears, fleshy upturned nose, or prominent mouth. [wiki.ggc.edu]

  Infants with three M syndrome have a relatively large head, triangular face, midface retrusion, thick eyebrows, fleshy nose tip, long philtrum, thick lips, and pointed chin. [ncbi.nlm.nih.gov]

• Short Neck

  Other features commonly associated with 3-M syndrome are a short neck, winged scapulae, short thorax, transverse chest groove, hyperlordosis, developmental dysplasia of the hip and spina bifida occulta. [3msyndrome.wordpress.com]

  They all showed numerous dysmorphisms, such as triangular face with prominent forehead, large eyes, depressed nasal bridge, thin upper lip, short neck, and bilateral clinodactyly. [cags.org.ae]

• Delayed Bone Age

  Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent in x-ray images. [medlineplus.gov]

  […] that are slender, tall vertebral bodies that shorten over time, small pelvic bones, a broad thorax with slender ribs, and delayed bone age in affected individuals. [11] Molecular genetic testing can be done on the individual to confirm the diagnosis [en.wikipedia.org]

In general, the response to treatment is modest, however a trial of treatment over 1 year (GH doses of 35-45 microgram/kg/day with monitoring of serum IGF-I levels) may show a reasonable response. In this case, r-hGH should be continued long-term. [orpha.net]

The treatment of Three M Syndrome is aimed at treating each symptom separately. The treatment measures may involve: The coordinated efforts of many specialists are involved in the treatment of Three M Syndrome. [dovemed.com]

Prognosis 3M syndrome is not a life-threatening condition and the prognosis is good. The documents contained in this web site are presented for information purposes only. [orpha.net]

Once bronchiectasis is established, prognosis worsens significantly. [patient.info]

Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation. 2005 Jan 25;111(3):257-63. [en.ecgpedia.org]

Clinical description Infants present with severe postnatal (and prenatal) growth retardation, usually associated with a low birth weight ( Etiology Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). [orpha.net]

Genomics 71: 174-181 Hitchins MP, Stanier P, Preece MA, Moore GE (2001) Silver-Russell syndrome: a dissection of the genetic etiology and candidate chromosomal regions. [omicsonline.org]

(Etiology) Three M Syndrome is caused by alterations and changes that occur in the CUL7 gene, which is involved in providing instructions to produce a protein called Cullin-7 This protein plays an important role in the ubiquitin-protessome system that [dovemed.com]

Summary Epidemiology Approximately 200 cases have been reported to date but as the condition is likely under-recognized, the true figure is probably higher. [orpha.net]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Epidemiology Frequency United States The incidence is rare, but it is likely underreported. White patients and those of Latino descent have been described in the United States. [emedicine.medscape.com]

[…] abnormalities has moved some authorities to propose a name change to Laugier and Hunziker pigmentation. [1] When associated with nonclassic body locations or atypical features, the name idiopathic lenticular mucocutaneous hyperpigmentation has been used. [2] Pathophysiology [emedicine.medscape.com]

Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [5] Normal collagen fibrils are composed of three [eyewiki.aao.org]

The major pathophysiologies encountered in blunt chest trauma involve derangements in the flow of air, blood, sepsis due to leakage of alimentary tract contents, as in esophageal perforations, also must be considered. [wikivisually.com]

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]

Preventing Hypoglycemia During Nighttime and in Routine Daily Life: We highly encourage you to read the hypoglycemia chapter in the RSS/SRS/SGA Guidebook for comprehensive prevention and treatment information. [silverrussellsyndrome.org]

Interim infection prevention and control recommendations for hospitalized patients with Middle East respiratory syndrome coronavirus (MERS-CoV). http://www.cdc.gov/coronavirus/mers/infection-prevention-control.html#infection-prevention. [cidrap.umn.edu]