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]

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]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

Presentation A 6-year-old boy who recently emigrated from Afghanistan presents for a routine health supervision visit. His parents are concerned about his progressive poor night vision, and he has polydactyly in the right hand. [pedsinreview.aappublications.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

  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). [ncbi.nlm.nih.gov]

  Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

  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]

  MalaCards integrated aliases for Biemond Syndrome Ii: Name: Biemond Syndrome Ii 57 70 Biemond Syndrome Type 2 58 70 Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome 58 Biemond Syndrome 2 20 Characteristics: Orphanet epidemiological data [malacards.org]

• Anemia

  See Pernicious anemia - not a rare disease Biermer's disease - See Pernicious anemia - not a rare disease Bietti crystalline corneoretinal dystrophy Bietti tapetoretinal degeneration with marginal corneal dystrophy - See Bietti crystalline corneoretinal [herenciageneticayenfermedad.blogspot.com]

  HEMOLYTIC ANEMIA AUTO-IMMUUNHEMOLYTISCHE ANEMIE AIHA Zie ook: HEREDITARY OROTIC ACIDURIA HEMOLYTIC ANEMIA from PYRIMIDINE NUCLEOTIDASE DEFICIENCY Zie ook: HEREDITARY SPHEROCYTIC HEMOLYTIC ANEMIA MINKOWSKI-CHAUFFARD SYNDROME CONGENITAL HEMOLYTIC ANEMIA [catsclem.nl]

  Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, c leucémie aigüe myéloïde héréditaire SNOMEDCT-BE (e.g. [wordscope.com]

  Beta-thalassemia major anemia[?] Beta-thalassemia[?] Bethlem myopathy[?] Bhaskar Jagannathan syndrome[?] Bibliophobia[?] Bickel Fanconi glycogenosis[?] Bicuspid aortic valve[?] Bidirectional tachycardia[?] Biemond syndrome type 1[?] [encyclopedia.kids.net.au]

  Massive Hepatosplenomegaly Cubitus Valgus with Mental Retardation and Unusual Facies Culler-Jones syndrome Curatolo Cilio Pessagno Syndrome Cutis Verticis Gyrata and Mental Deficiency Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia [rgd.mcw.edu]

• Male Hypogonadism

  hypogonadism (micropenis, small testes). [accesspediatrics.mhmedical.com]

  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 Hyper- or hypogonadotropic hypogonadism is seen in both males and females. It is more common in males. Secondary sex characteristics are normal. Affected females tend to have hyperandrogenism, hirsutism, and alopecia. [entokey.com]

• Lymphedema

  Congenital afibrinogenemia Amnesia, anterograde Mycositis fungoides Peters anomaly with cataract Hypertrichosis lanuginosa, acquired Hereditary hyperuricemia Lymphedema, congenital Myositis, inclusion body Hyperprolactinemia Comparative prices of Lexapro [morganhowardproductions.com]

  Anomalies Microcephaly Deafness Syndrome Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema [rgd.mcw.edu]

  – Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): caused by KIF11 mutation. This syndrome is phenotypically variable. Not all patients have a clear ocular phenotype. [bredagenetics.com]

  Some features may share overap with Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) (OMIM 152950). [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]

  Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. [medlineplus.gov]

  Children and adolescents with LOC-ED experience weight gain and emotional distress. [medicalhomeportal.org]

• Retinal Pigmentation

  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]

  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]

  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]

  Pigment Abnormalities RAHMAN SYNDROME Ramon Syndrome Ramos Arroyo Clark Syndrome Reardon Wilson Cavanagh Syndrome renal coloboma syndrome RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT Retinal Dystrophy and Obesity Retinal Dystrophy [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]

• Partial Alopecia

  Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Hypogonadism, Extrapyramidal Disorder Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental [rgd.mcw.edu]

• High Pain Threshold

  PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL [rgd.mcw.edu]

• Spastic Quadriplegia

  Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly [rgd.mcw.edu]

• Polyps

  Persaud Syndrome Maroteaux Fonfria Syndrome Martsolf syndrome MASA syndrome McDonough Syndrome McKusick Kaufman Syndrome Meckel syndrome 13 Meckel syndrome 4 Meckel-Like Cerebrorenodigital Syndrome Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps [rgd.mcw.edu]

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]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.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]

Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Biemond syndrome. [diseaseinfosearch.org]

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]

[…] 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]

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]

Clinical, genetic and epidemiological studies. D. Klein, F. Ammann Medicine Journal of the neurological sciences 1969 219 Related Papers Abstract Topics 2 Citations Related Papers [semanticscholar.org]

MalaCards integrated aliases for Biemond Syndrome Ii: Name: Biemond Syndrome Ii 57 70 Biemond Syndrome Type 2 58 70 Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome 58 Biemond Syndrome 2 20 Characteristics: Orphanet epidemiological data [malacards.org]

Epidemiology The approximate incidence of this syndrome is 0.6–10 in 100,000. [entokey.com]

The syndrome of Laurence-Moon-Biedl and allied disease in Switzerland: clinical, genetic and epidemiological studies. J Neurol Sci 9: 479-494, 1969 (6) Temtamy SA, McKusick VA: The Genetics of Hand Malformations. [syndromefinder.ncchd.go.jp]

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]

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]

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]