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

The characteristic radiologic findings of 3M syndrome are used to rule out similar disorders such as Silver-Russel syndrome (SRS), particularly the lack of limb length asymmetry that is present in over half of those with autosomal recessive SRS. [cags.org.ae]

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]

• Gagging

  gag HIV-1 Gag is degraded by CCDC8 PubMed gag HIV-1 Gag is relocalized by CCDC8 from the plasma membrane to the cytoplasm via endocytosis but not via the endolysosome pathway PubMed gag HIV-1 Gag incorporates CCDC8 into HIV-1 virions PubMed gag HIV- [ncbi.nlm.nih.gov]

• 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]

• 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]

• Hyperextensible Joints

  From the age of 7–8 years triangular-shaped face, frontal bossing, transverse chest groove, winged scapulae and hyperextensible joints became very evident (Figures 1 a and 2 b and Figure 3 ). [ijponline.biomedcentral.com]

• Frontal Bossing

  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]

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

  bossing, fleshy tipped nose, and fleshy lips. [genecards.org]

  Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular facies with frontal bossing and depressed nasal bridge, small tongue, yellowish dots on the fundus and pericardial constriction. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  A recent report demonstrated that children thought to have autosomal recessive RSS did in fact have 3-M syndrome. 5 Dubowitz syndrome: includes characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital [ncbi.nlm.nih.gov]

  Dubowitz syndrome : includes characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis, dysplastic ears), microcephaly, mental deficiency [doi.org]

• Human Papillomavirus

  Title: The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis. [ncbi.nlm.nih.gov]

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]

No psychological or psychiatric treatment is needed as the mental development of patients remains normal. Causes It is believed that the mutation of the gene Cullin 7 could lead to the disorder. [signssymptoms.org]

Treatment The index patient was started on GH at a dose of 0.045 mg/kg per day. Outcome and follow-up At the start of GH treatment at 7 years of age, the index patient's height was 94 cm (−5.3 SDS). [edmcasereports.com]

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]

Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis. [eyewiki.aao.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]

[…] syndrome in 1968. [8] In 1975, Chusid et al defined the three features required for a diagnosis of hypereosinophilic syndrome [4] : A sustained absolute eosinophil count (AEC) greater than >1500/µl, which persists for longer than 6 months No identifiable etiology [emedicine.medscape.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]

Epidemiology The incidence of the genetic disorder is 1 in 32,000 births [ 5 ]. However, higher incidences have been found in communities in which consanguineous marriages are common [ 6 ]. [patient.info]

[…] 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]

As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]