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]

• Chronic Fatigue Syndrome

  Common comorbidities including sleep difficulties, chronic pain, chronic fatigue syndrome, and TMJ dysfunction can have a significant negative impact on an individual’s quality of life. [mendcolorado.com]

• Developmental Disorder

  ORPHANET OMIM Genetic Syndrome Finder If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRALOGY OF FALLOT; TOF INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND [mendelian.co]

• 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]

• 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]

• Large Anterior Fontanels

  anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated [orpha.net]

  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]

  Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

• 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]

• Insomnia

  This leads to changes in mood, fatigue and depression.1 The symptoms of over-training syndrome can be diverse and can affect all areas of the body these symptoms include: Fatigue Depression Loss of motivation Insomnia Agitation High blood pressure Anxiety [bendandmend.com.au]

• Nystagmus

  Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

• Papilledema

  Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

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]

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]