Acronym 3M1 Synonyms 3M syndrome-1 Dolichospondylic dysplasia Gloomy face syndrome Le Merrer syndrome Miller-McKusick-Malvaux syndrome Three M syndrome Three M syndrome 1 Yakut short stature syndrome Keywords Any medical or genetic information present [uniprot.org]

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

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]

• Dysplastic Ears

  ears), microcephaly, mental deficiency, and infantile eczema as well as prenatal and postnatal growth deficiency. [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]

• 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]

• Skeletal Dysplasia

  Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. [ncbi.nlm.nih.gov]

  - Kozlowski, K. 3M syndrome in two sisters Prenatal growth restriction, bone dysplasia, 3M syndrom In: Journal of Paediatrics and Child Health,č. 38,2003,s. 419-422, Mařík, Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia [cps.lf1.cuni.cz]

  Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,... Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,... [centogene.com]

  Antenatally, he was suspected to have skeletal dysplasia. [edmcasereports.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]

• Behavior Disorder

  disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome [genda.com.ar]

• Anger

  Fabien Guimiot Department of Genetics, AP-HP, Hôpital Robert Debré, Paris, France Clarisse Baumann Service de génétique, CHU Sainte Justine, Montreal, Canada Daniela Bezerra Da Silva Department of Biochemistry and Medical Genetics and INSERM, U694, Angers [doi.org]

• Frontal Bossing

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

  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]

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

  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]

• 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]

• High Forehead

  forehead, pseudo-hydrocephalic skull configuration) Fetal alcohol syndrome NA NA IUGR Microcephaly subcutaneous fat Hirsutism Nail hypoplasia Characteristic facial features Intellectual disability 1. [ncbi.nlm.nih.gov]

• 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]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.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]

3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown. [ncbi.nlm.nih.gov]

Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-03-22. [diseasesdatabase.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]

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

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

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]

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]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.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]

If the test result is positive (please describe): If the test result is negative (please describe): Yes for management of the growth retardation and prevention of recurrence if positive. [doi.org]

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