MEND syndrome presents as collodion baby, with distinct facial features, such as a prominent nasal bridge, low-set ears and large anterior fontanelle. [medicaljournals.se]

Acronym MEND Synonyms Male EBP disorder with neurological defects Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Up to 20% of the sterol present in an embryo can be maternal (Shi et al., 1999). [onlinelibrary.wiley.com]

Nevertheless, even in this classic reference series, heterogeneity of presentation was apparent; not all patients were hirsute, and three showed evidence of recent ovulation (7). [academic.oup.com]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. [uniprot.org]

  stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Genes related to Mend Syndrome EBP View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Mend Syndrome Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Scoliosis [mendelian.co]

  stature in a Mexican family maps to Xp11.4-p11.21. 6 57 Barboza-Cerda MC...Dector MA 23307567 2013 4 A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 57 6 Furtado LV...Rope AF 20949533 2010 5 Hypomorphic alleles [malacards.org]

• Developmental Delay

  delay Hydrocephalus Hyperactivity Hypertonia Intellectual disability Seizures Ear malformation Low-set ears Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to [ncbi.nlm.nih.gov]

  Genes related to Mend Syndrome EBP View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Mend Syndrome Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Scoliosis [mendelian.co]

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Am J Med Genet Part A 2014; 164A: 907–914. Google Scholar de Almeida Jr. [medicaljournals.se]

  1 An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 6 57 61 24459067 2014 2 A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent [malacards.org]

• Pain

  It is associated with diarrhea, constipation or both, abdominal pain and bloating, possible urinary symptoms and pelvic pain. [mendcolorado.com]

  Carpal tunnel syndrome and its cousin, cubital tunnel syndrome, are painful and chronic conditions that require treatment from a hand specialist. However, both conditions started to boom in the 1980s. [mendclinic.com]

  While the main symptoms are chest pain and shortness of breath, the precise cause isn't known. [monash.edu]

  The condition mimics a heart attack with chest pain, shortness of breath and irregular heartbeat. [westernadvocate.com.au]

• Multiple Congenital Anomalies

  Journal Br J Dermatol 166:1309-13 (2012) DOI:10.1111/j.1365-2133.2012.10808.x Reference PMID:20949533 Authors Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF Title A novel X-linked multiple congenital anomaly syndrome associated [genome.jp]

  A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A 2010; 152A: 2838–2844. Google Scholar Happle R. [medicaljournals.se]

  congenital anomaly syndrome associated with an EBP mutation. 57 6 Furtado LV...Rope AF 20949533 2010 5 Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 57 6 Happle R 12966533 2003 6 Molecular [malacards.org]

• Weight Loss

  loss Overtraining syndrome is quite rare and extreme in nature, however overreaching is something you may experience or have experienced before. [bendandmend.com.au]

  Clin Endocrinol (Oxf) 36 : 105 – 111 22 Clark AM, Ledger W, Galletly C, Tomlinson L, Blaney F, Wang X, Norman RJ 1995 Weight loss results in significant improvement in pregnancy and ovulation rates in anovulatory obese women. [academic.oup.com]

• Failure to Thrive

  […] to thrive Micrognathia Cleft palate Cataract And another 58 symptoms. [mendelian.co]

• Abdominal Pain

  It is associated with diarrhea, constipation or both, abdominal pain and bloating, possible urinary symptoms and pelvic pain. [mendcolorado.com]

• Constipation

  It is associated with diarrhea, constipation or both, abdominal pain and bloating, possible urinary symptoms and pelvic pain. [mendcolorado.com]

• Hypertension

  For naïve patients with World Health Organization group I pulmonary hypertension, parenteral prostanoids should be considered because they may salvage patients who present de-novo with advanced pulmonary arterial hypertension and RV failure. [acc.org]

  61 Liu L...Vestergaard M 33467002 2021 17 Enhanced Comprehensive Learning Particle Swarm Optimization with Dimensional Independent and Adaptive Parameters. 61 Yu X...Qiao Y 33628213 2021 18 Personalised 3D Printed Fast-Dissolving Tablets for Managing Hypertensive [malacards.org]

• Low Set Ears

  […] psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set [ncbi.nlm.nih.gov]

  Low-set ears MedGen UID: 65980 •Concept ID: C0239234 • Congenital Abnormality Dandy-Walker syndrome MedGen UID: 4150 •Concept ID: C0010964 • Disease or Syndrome A congenital abnormality of the central nervous system marked by failure of the midline structures [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  MEND syndrome presents as collodion baby, with distinct facial features, such as a prominent nasal bridge, low-set ears and large anterior fontanelle. [medicaljournals.se]

• Skeletal Dysplasia

  EBP Specificity 100 % Genes 100 % Skeletal dysplasia (NGS panel for 31 genes). By CGC Genetics (Portugal). [mendelian.co]

• Wrist Pain

  Carpal Tunnel Care at Mend Clinic Salem, Oregon No matter what kind of work you do, or if you have wrist pain or numbness that you don’t think is related to your work, you may be suffering from Carpal Tunnel Syndrome. [mendclinic.com]

• Brachydactyly

  Mild Mild Microbrachycephaly + + + + Development delay + + + + Corpus callosum hypoplasia + NE NE NE Craniofacial Narrow forehead + − − − Midface hypoplasia + − − − Ptosis Right − − − Strabismus Convergent Divergent − − Low-set ears + + − − Skeletal Brachydactyly [onlinelibrary.wiley.com]

• Cryptorchidism

  […] bridge Abnormality of limbs 2-3 toe syndactyly Long fingers Overlapping fingers Overlapping toe Polydactyly Abnormality of the cardiovascular system Aortic valve stenosis Abnormality of the eye Cataract (disease) Abnormality of the genitourinary system Cryptorchidism [ncbi.nlm.nih.gov]

  Disease Name MEND syndrome Description MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism [genome.jp]

  Cryptorchidism can be subclassified by the location of the maldescended testis. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

• Pelvic Pain

  It is associated with diarrhea, constipation or both, abdominal pain and bloating, possible urinary symptoms and pelvic pain. [mendcolorado.com]

Diagnostic workup, etiologies and management of acute right ventricle failure : A state-of-the-art paper. Intensive Care Med 2018;May 9:[Epub ahead of print]. Harjola VP, Mebazaa A, Čelutkienė J, et al. [acc.org]

• Staphylococcus Aureus

  aureus. 61 Liu L...Vestergaard M 33467002 2021 17 Enhanced Comprehensive Learning Particle Swarm Optimization with Dimensional Independent and Adaptive Parameters. 61 Yu X...Qiao Y 33628213 2021 18 Personalised 3D Printed Fast-Dissolving Tablets for [malacards.org]

• Hepatocellular Carcinoma

  61 Samaan MA...Irving PM 32157305 2020 35 Preemptive Homology-Directed DNA Repair Fosters Complex Genomic Rearrangements in Hepatocellular Carcinoma. 61 Sy SM...Huen MS 32450552 2020 36 Lipid nanoparticles fuse with cell membranes of immune cells at low [malacards.org]

A systematic review by Shumman et al. 2016, investigated the effectiveness for yoga as a treatment option for IBS. Yoga is thought to address both the stress or anxiety associated with IBS and can address pelvic floor relaxation as treatment. [mendcolorado.com]

Carpal tunnel syndrome and its cousin, cubital tunnel syndrome, are painful and chronic conditions that require treatment from a hand specialist. However, both conditions started to boom in the 1980s. [mendclinic.com]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

We are approaching this goal using a variety of critical research techniques designed to understand causes and to develop effective treatments for many developmental and psychiatric disorders. [vumc.org]

Introduction Right ventricular (RV) failure is a recognized complication of primary cardiac and pulmonary vascular disorders and is associated with a poor prognosis. [acc.org]

PMID: 22229330 Prognosis Barboza-Cerda MC, Barboza-Quintana O, Martínez-Aldape G, Garza-Guajardo R, Déctor MA Mol Genet Genomic Med 2019 Sep;7(9):e931. Epub 2019 Aug 8 doi: 10.1002/mgg3.931. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

One impetus for genetic studies of PCOS was to unravel the etiology of the syndrome and provide greater precision to the diagnosis. [endocrino.org.br]

As yet, we do not have a clear view of the etiology of PCOS, although both genetic and environmental influences are implicated (5, 6). [academic.oup.com]

Diagnostic workup, etiologies and management of acute right ventricle failure : A state-of-the-art paper. Intensive Care Med 2018;May 9:[Epub ahead of print]. Harjola VP, Mebazaa A, Čelutkienė J, et al. [acc.org]

Stated differently, PCOS can be conceptualized as a pathophysiological state of acyclic ovarian function rather than a single distinct disorder. [endocrino.org.br]

A Monash University study has uncovered for the first time a way to prevent and reverse damage caused by broken-heart syndrome, also known as Takotsubo cardiomyopathy. [monash.edu]

The landmark study by Monash University has for the first time uncovered a way to prevent and reverse damage caused by broken-heart syndrome, also known as Takotsubo cardiomyopathy. [westernadvocate.com.au]

Clinical Topics: Arrhythmias and Clinical EP, Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Noninvasive Imaging, Pericardial Disease, Prevention [acc.org]