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Biemond Syndrome Type 2

Hypogonadism - Short Stature - Coloboma - Preaxial Polydactyly


Presentation

  • Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Prevalence: Inheritance: Unknown Age of onset: Antenatal , Neonatal ICD-10: - OMIM: 210350 UMLS: C1859487 C2930903 MeSH: - GARD: 882 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • We present clinical data on three mentally retarded sporadic cases with coloboma, obesity, and hypogenitalism (in two of them), fitting as first glance a diagnosis of BS2.[ncbi.nlm.nih.gov]
  • Polydactyly was present in 18 of 31 patients, but syndactyly, brachydactyly, or both were present in all. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded.[nejm.org]
  • The present family had following features: Mental retardation, obesity, hypogenitalism, polydactyly, retinitis pigmentosa. Supernumerary teeth being an additional feature and was present in all the patients.[jemds.com]
Short Stature
  • ORPHA:141333 Synonym(s): Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Prevalence: Inheritance: Unknown Age of onset: Antenatal , Neonatal ICD-10: - OMIM: 210350 UMLS: C1859487 C2930903 MeSH: - GARD: 882 MedDRA: - The documents contained[orpha.net]
  • Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity,[ncbi.nlm.nih.gov]
  • STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity Syndrome SIFRIM-HITZ-WEISS SYNDROME Simpson-Golabi-Behmel[rgd.mcw.edu]
  • MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 Is also known as maine microphthalmos, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation;x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation[mendelian.co]
  • They suggested that purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome (see 209901) with fortuitous coloboma or aniridia; (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial[omim.org]
Dysostosis
  • Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.[orpha.net]
  • Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.[ncbi.nlm.nih.gov]
  • […] polydactyly, BS2 Overview Biemond syndrome type 2 is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, underdeveloped genitals and facial dysostosis[checkorphan.org]
  • Mutated MESP2 causes spondylocostal dysostosis in humans [10] .[wikigenes.org]
  • ) 759.89 Dyscraniopyophalangy 759.89 Dysostosis orodigitofacial 759.89 Dysplasia - see also Anomaly craniocarpotarsal 759.89 linguofacialis 759.89 oculodentodigital 759.89 Ectopic, ectopia (congenital) 759.89 gestation - see Pregnancy, ectopic mole -[icd9data.com]
Male Hypogonadism
  • Testosterone is also used as a medication to treat male hypogonadism, since testosterone levels gradually decrease as men age, synthetic testosterone is sometimes prescribed to older men to counteract this deficiency.[wikivisually.com]
  • Hypogonadism with Mental Retardation and Skeletal Anomalies Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type Malouf Syndrome Mandibulofacial Dysostosis with Mental Deficiency mandibulofacial dysostosis, Guion-Almeida type Marfanoid[rgd.mcw.edu]
  • : hypogonadism Females: irregular menses and/or hyperandrogenism Supportive findings (common to all age groups) Recurrent pulmonary and urinary tract infections.[entokey.com]
Weight Gain
  • Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS.[rarediseases.org]
  • Children and adolescents with LOC-ED experience weight gain and emotional distress.[medicalhomeportal.org]
Food Poisoning
  • Bacterial food poisoning[?] Bacterial meningitis[?] Bacterial pneumonia[?] BAER[?] Bagatelle Cassidy syndrome[?] Bahemuka Brown syndrome[?] Baker Vinters syndrome[?] Baker-Winegard syndrome[?] Balantidiasis[?] Ballard syndrome[?] Ballistophobia[?][encyclopedia.kids.net.au]
  • Ba [ edit ] Bab–Bam [ edit ] Baber's syndrome Babesiosis Bacillus cereus infection Bacterial endocarditis Bacterial food poisoning Bacterial gastroenteritis Bacterial meningitis Bacterial pneumonia Bacterial vaginosis BAER Bagatelle–Cassidy syndrome Bahemuka–Brown[en.wikipedia.org]
Retinal Pigmentation
  • Night blindness in the presence of retinal pigment degeneration . Retinal dystrophy resembling retinitis pigmentosa is also part of this disorder but the rarity of cases precludes a full description of the phenotype .[wikidoc.org]
  • Color fundus photograph showed mottling of the retinal pigment epithelium in the macula. Source: Fine HF Figure 3. Fundus autofluorescence imaging disclosed mottled macular hyper- and hypo-autofluorescence.[healio.com]
  • pigment epithelium-specific protein 65kDa ( RPE65 ), paired box 2 ( PAX2 ), paired box 3 ( PAX3 ), microphthalmia-associated transcription factor ( MITF ), jagged 1 ( JAG1 ), and retina and anterior neural fold homeobox ( Rx ), and FOXC1 , are important[molvis.org]
  • Abnormalities and Mental Retardation Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness Pseudoaminopterin Syndrome Pseudotrisomy 13 Syndrome Pseudouridinuria and Mental Defect Qazi Markouizos syndrome Radioulnar Synostosis Retinal[rgd.mcw.edu]
  • The lesions are white or yellow-white colored, well-circumscribed, round, depigmented areas of the retinal pigment epithelium and underlying choroid. The borders of the lesion often have variable pigmentation.[entokey.com]
Night Blindness
  • Night blindness in the presence of retinal pigment degeneration . Retinal dystrophy resembling retinitis pigmentosa is also part of this disorder but the rarity of cases precludes a full description of the phenotype .[wikidoc.org]
  • RP begins with night blindness, followed by a loss of the ability to discriminate colors from one another, and finally to a progressive tunnel vision.[rarediseases.org]
  • BLINDNESS NYCTALOPIE NYCTALOPIA NYCTANOPIA TRUE NIGHT BLINDNESS IDIOPATHIC NYCTALOPIA AVITAMINOTIC NYCTALOPIA Zie ook: SNEEUWBLINDHEID NIFABLEPSIE SNOW BLINDNESS NIPHABLEPSIA ULTRAVIOLET KERATITIS PHOTOKERATITIS Zie ook: OOGAANDOENINGEN EYE DISEASES[catsclem.nl]
  • Night blindness is the earliest symptom, beginning usually at 7–8 years of age. It is followed by slowly progressive visual field loss. The maculopathy may or may not be associated with peripheral retinal degeneration.[entokey.com]
Skeletal Dysplasia
  • dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan's syndrome Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) Oculo-palato-digital[emedcodes.com]
  • DYSPLASIA SYNDROME Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Mirhosseini-Holmes-Walton Syndrome Moebius Axonal Neuropathy Hypogonadism Mollica Pavone Antener[rgd.mcw.edu]
  • dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan syndrome Noonan's syndrome Oculo-cerebro-cutaneous syndrome Oculodentodigital syndrome Oculodento-osseous dysplasia[icd9data.com]
Hunger
  • Theories to explain this condition include hypothalamic dysfunction of hunger and satiety centers, genetic predisposition, abnormal absorption of nutrients, and impaired action of GI and growth hormones and of hormonal regulators such as insulin.[checkorphan.org]
  • How is your hunger: Less, Normal or Excessive? less 15. Is there any kind of food which your body can’t stand? oily and spicy food 16. Is your sweat normal or less or more? Where does it sweat more: Head, Trunk or Limbs? more head 17.[homeopathyandmore.com]
Excitement
  • This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients[books.google.de]

Treatment

  • 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.de]
  • Treatment Options None known.[wikidoc.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]
  • Treatment - Biemond syndrome type 2 Not supplied. Resources - Biemond syndrome type 2[checkorphan.org]

Prognosis

  • Prognosis - Biemond syndrome type 2 Not supplied. Treatment - Biemond syndrome type 2 Not supplied. Resources - Biemond syndrome type 2[checkorphan.org]
  • The prognosis is poor, with roughly three-quarters of patients legally blind by the second or third decade of life. Electroretinographic findings may show a rod-cone dystrophy or even extinguished responses.[healio.com]
  • The prognosis is generally good if the child survives infancy.[entokey.com]
  • Penetrating keratoplasty has poor prognosis due to graft failure, however homologous lamellar limbo-keratoplasty appears to be quite effective in AAK. 16 Managing glaucoma in aniridia is difficult with unsatisfactory results with medical management.[jemds.com]

Etiology

  • […] divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies[books.google.de]
  • Biological context of Dysostoses Cartilage-hair hypoplasia (CHH) is an autosomal recessive disease of unknown etiology characterized by metaphyseal dysostosis , unpigmented hair, and defective cellular immunity [16] .[wikigenes.org]
  • Handbook of Pediatric Obesity: Etiology, Pathophysiology, and Prevention .[medicalhomeportal.org]

Epidemiology

  • Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.[books.google.de]
  • Epidemiology The approximate incidence of this syndrome is 0.6–10 in 100,000.[entokey.com]
  • Gluten ataxia in per- spective: epidemiology, genetic susceptibility and clinical characteristics. Sulforaphane can restrain PRR signaling by without delay attenuating TLR4 activation while curcumin inhibits both TLR4 and ACQUIESCENCE1/2.[ddna.org]
  • Molecular Epidemiology: Focus on Infection.[blkhospital.com]
  • Namely, there are two clear-cut sites of gastric adenocarcinoma: proximal (cardia) and distal (non-cardia), with personal epidemiological and clinical characteristics.[waittfoundation.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Genetics Little is known about the inheritance or genetic defect responsible.[wikidoc.org]
  • Pathophysiological Consequences of Alterations in the INE Network As in all processes based on the equilibrium between connections in a network of interactions, there could be conditions in which such links are disrupted or unstable.[ddna.org]
  • Handbook of Pediatric Obesity: Etiology, Pathophysiology, and Prevention .[medicalhomeportal.org]
  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al.[rarediseases.org]
  • […] afdalende trap (scala tympani), fenestra cochleae (ronde venster) Het Binnenoor The Inner Ear Anatomy of the Inner Ear - VEDA (US) Histology of the Inner Ear An Inner Ear Primer - Tulane University Brief overview of the inner ear functioning and the main pathophysiology[catsclem.nl]

Prevention

  • Prevention - Biemond syndrome type 2 Not supplied. Diagnosis - Biemond syndrome type 2 Not supplied. Prognosis - Biemond syndrome type 2 Not supplied. Treatment - Biemond syndrome type 2 Not supplied. Resources - Biemond syndrome type 2[checkorphan.org]
  • First, a multicentre study will start this year to study the effect of the antioxidant n-acetylcysteine on the prevention of sickle cell crises and daily pain.[amc.nl]
  • Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2017;102(3):709-757. PubMed abstract Centers for Disease Control & Prevention. Prevention Strategies & Guidelines .[medicalhomeportal.org]

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