Thus, a thorough assessment for ophthalmological, neurological and endocrinological changes in patients presenting with one of the key features is recommended. [n.neurology.org]

present only in small fractions. [typeset.io]

Case presentation: Two sisters of a non-consanguineous family, presented to our genetics department with ataxia, primary amenorrhea and dysmorphic features. [epostersonline.com]

• Short Stature

  The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. [healio.com]

  Other abnormalities occasionally include short stature, seizures, and craniofacial mal-formations (frontal bossing, hypertelorism, a long upper lip, hypoplastic mandible, and large ears). [indianpediatrics.net]

  Some affected individuals experience growth delays ultimately resulting in short stature. [rarediseases.org]

  […] bowel syndrome short QT syndrome + SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity [rgd.mcw.edu]

  Usually this disorder is diagnosed at the onset of puberty (primary amenorrhea, poor development of sexual organs, sparse growth of secondary hair, short stature, delayed puberty, delayed bone age, infertility), spinocerebellar ataxia (with a variable [accessanesthesiology.mhmedical.com]

• Epilepsy

  (WES) Epilepsy with neurodevelopmental defects (EPND) Epilepsy, Idiopathic Epilepsy, myoclonic Episodic ataxia Episodic kinesigenic dyskinesia Episodic pain syndrome Erythermalgia, primary or idiopathic F Familial infantile convulsions with paroxysmal [genomediagnosticsnijmegen.nl]

  Share Description MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy Tags History Transcript [idocslide.com]

  Although epilepsy was also found, it is not one of the diagnostic criteria for this syndrome 1,4,15. [scielo.br]

  Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome facial hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder + Failed Back Surgery Syndrome Fallot Complex with [rgd.mcw.edu]

  Two of them are said to have epilepsy and ID, although this may be due to infantile meningitis in one of the children. [journals.plos.org]

• Anemia

  Fanconi’s anemia. Smith-Lemli-Opitz syndrome. Boucher-Neuhauser syndrome. Mobius sequence. Aaronson IA: Micropenis: medical and surgical implications. J Urol 1994; 152(1): 4-14. Anhalt H, Neely EK, Hintz RL: Ambiguous genitalia. [fetalultrasound.com]

  Cone dystrophy 3/Cone rod dystrophy GUCA1B dominant retinitis pigmentosa; dominant macular dystrophy GUCY2D Cone rod dystrophy, Leber congenital amaurosis HARS Usher syndrome HCN1 Cone rod dystrophy HGSNAT recessive retinitis pigmentosa HK1 Hemolytic anemia [molecularvisionlab.com]

  Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Cushing Syndrome + Cutis Laxa-Marfanoid Syndrome Cutis Verticis Gyrata and Mental Deficiency Cyprus Facial Neuromusculoskeletal Syndrome Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia [rgd.mcw.edu]

• Lymphedema

  Syndrome Microcephaly Albinism Digital Anomalies Syndrome microcephaly and chorioretinopathy 1 + microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome microcephaly with or without chorioretinopathy, lymphedema [rgd.mcw.edu]

• Visual Impairment

  OMIM : 58 Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. [malacards.org]

  Imaging IHG25190 1 B F BNS 2, visual impairment 56 +, since age 6 years + (including primary amenorrhoea) + −/− + ↓/↓ Mild Atrophy cerebellum and pons; small pituitary 2 B M BNS 3, visual impairment 55 +, since age 6 years + + −/− + ↓/↓ Mild Atrophy [academic.oup.com]

  Genes related to Boucher-neuhauser Syndrome; Bnhs PNPLA6 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Boucher-neuhauser Syndrome; Bnhs Ataxia Spasticity Cognitive impairment Visual impairment Dysarthria [mendelian.co]

  Get Update Overview Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. [diseaseinfosearch.org]

  impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). [orpha.net]

• Psychomotor Retardation

  The impact that this has on vision is difficult to assess since patients also often have significant psychomotor retardation and seizures. [disorders.eyes.arizona.edu]

  […] psychomoteur Homme Syndrome complexe Keyword (en) Child Case study Clinical investigation Macrocephaly Megalocornea Psychomotor retardation Human Complex syndrome Keyword (es) Niño Estudio caso Exploración clínica Macrocefalía Megalocórnea Retardo psicomotor [pascal-francis.inist.fr]

  PSPH deficiency Psychomotor Agitation + Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism Qazi Markouizos syndrome Radio Renal Syndrome Radioulnar Synostosis Retinal Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud [rgd.mcw.edu]

• Round Face

  The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized [ncbi.nlm.nih.gov]

  The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear “cup”, jaw undersized [medigraphic.com]

  face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip.[1] According to OMIM,[2] only 24 cases have been described in medical literature [en.wikipedia.org]

  Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and small chin. She also had poor coordination. [omim.org]

• Poor Coordination

  Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. Synonyms: Recurrent encephalophathy of childhood [ebi.ac.uk]

  Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. [scinapse.io]

  She also had poor coordination. Santolaya et al. (1992) concluded that hypotonia is a major feature of this syndrome. Antinolo et al. (1994) reported an isolated case of megalocornea, mental retardation, and hypotonia. [omim.org]

  Other neurologic abnormalities may be observed, including delayed speech development, poor coordination and clumsiness, seizures, hyperactivity and involuntary movements of the face, arms and legs (limbs) and trunk consisting of slow, continual, writhing [rarediseases.org]

Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup. [checkorphan.org]

Previous workup included basic blood and urine as well as serologic, immunologic and broad metabolic studies that were all negative. Endocrine evaluation revealed prepubertal FSH, LH and estradiol levels. [epostersonline.com]

Workup Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and arterial blood gas ( ABG ) sampling (since hypoxia and hypercarbia in room air reflect severe restrictive lung disease [emedicine.medscape.com]

• Hypercholesterolemia

  Short stature, hypercholesterolemia, seizures and hypothyroidism have also been reported. Genetics No specific mutation has been found. Most cases occur sporadically. [disorders.eyes.arizona.edu]

  […] dysmorphic ears, micrognathia, high arched palate, broad nasal bridge, and hypertelorism.[7][14] Osteoarticular abnormalities can include kyphosis/scoliosis, joint hyperlaxity, and long/tapered fingers.[7][14] Additionally, hypothyroidism, osteoporosis, hypercholesterolemia [eyewiki.aao.org]

  Sarkozy et al. (2002) reported a child with megalocornea-mental retardation syndrome who had also had primary hypothyroidism, osteopenia, and hypercholesterolemia. [omim.org]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment Treatment Options: The use of appropriate hormones can stimulate the development of normal secondary sexual characteristics and may restore reproductive function. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The 'prognosis' of Neuhauser-Eichner-Opitz syndrome usually refers to the likely outcome of Neuhauser-Eichner-Opitz syndrome. [checkorphan.org]

Diagnosis and Prognosis: This is probably a stable condition although too few cases have been reported to be certain. Diagnosis requires a multidisciplinary team. [disorders.eyes.arizona.edu]

Where this is successful, the prognosis is good. However, in 3-4% of cases, colonic perforation complicates the presentation 2 and this and its sequelae significantly increase both mortality and morbidity. [radiopaedia.org]

Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology. [imperial.ac.uk]

Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]

In fact, the largest group (BMD type 1) remains poorly characterized, since it is not associated with any particular clinical feature or etiological factor. [frontiersin.org]

CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology [molecularvisionlab.com]

People do not experience other neurological deficits such as numbness or weakness, and if these symptoms are present, a more serious etiology, such as posterior circulation stroke or ischemia, must be considered. [en.wikipedia.org]

[…] usually appears between the age of 50 and 60 years old, and the hypogonadotropic hypogonadism appears in late childhood-adolescence.[4][5] Causes[edit] This disorder is caused by autosomal recessive mutations in the PNPLA6 gene, in chromosome 19.[6] Epidemiology [en.wikipedia.org]

Infectious Diseases Society of America and the Society for Healthcare Epidemiology of America guidelines for developing an institutional program to enhance antimicrobial stewardship. [cambridge.org]

One recent large epidemiological study estimates that as many as 35% of adults aged 40 years or older in the United States—approximately 69 million Americans—have experienced some form of vestibular dysfunction. 1 According to the National Institute on [vestibular.org]

Alberti KG, Zimmet P, Shaw J, IDF Epidemiology Task Force Consensus Group: The metabolic syndrome – a new worldwide definition. Lancet 2005; 366: 1059–62. [aerzteblatt.de]

Unlike others on this topic, this text demonstrates how the endoscope incorporates pathophysiology, diagnostic, and treatment modalities into endoscopic practice. [books.google.com]

The nature of the gene involved and its specific role in the pathophysiology are unknown. The absence of a response to luteinizing hormone also suggests disturbed pituitary function. [accessanesthesiology.mhmedical.com]

This group may overlap with VM, and it may share common pathophysiological mechanisms ( 63 ). [frontiersin.org]

"Benign Paroxysmal Positional Vertigo (BPPV): History, Pathophysiology, Office Treatment and Future Directions". International Journal of Otolaryngology. 2011 : 1–13. doi : 10.1155/2011/835671. PMC 3144715. [en.wikipedia.org]

In: Bertrand J, Rappaport R, Sizonenko PC (eds) Pediatric endocrinology–physiology, pathophysiology, and clinical aspects. [link.springer.com]

Promoting COVID-19 prevention strategies, especially vaccination in children which is 91% effective at preventing MIS-C, is the best way to protect children and teens from MIS-C. [cdph.ca.gov]

[…] cup", jaw undersized (micrognathia) and abnormal posterior positioning of the mandible (retrognathia).The use of facial dysmorphism helps to delineate the phenotype and achieve the punctuation required for the diagnosis, allowing early management and prevention [ncbi.nlm.nih.gov]

Special chapters, such as the Designing Clinical Research in Gastrointestinal Endoscopy, The Prevention of Infection Following Gastrointestinal Endoscopy, Complications of Peptic Ulcer Disease, and Credentialing for Gastrointestinal Endoscopy, help make [books.google.com]

Prevention - Boucher Neuhauser syndrome Not supplied. Diagnosis - Boucher Neuhauser syndrome The wise clinician should consider a neurologic referral at the outset. [checkorphan.org]

What is the preventative behaviour of at-risk groups? Status: ongoing Data sources: DEGS, GNHIES98, GEDA Date: 13.10.2014 [rki.de]