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. [typeset.io]

Presented in abstract form at the 60th annual meeting of the American Society of Hematology, San Diego, 2018. [onlinelibrary.wiley.com]

• Dysostosis

  Abstract: 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. [typeset.io]

  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. [rarediseases.info.nih.gov]

  99-80%) HP:0000568 7 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047 8 coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000589 9 preaxial polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100258 10 mandibulofacial dysostosis [malacards.org]

• Hyperthermia

  Other than management of adipositas and potentially increased ICP (ie, maintain adequate cerebral perfusion pressure and avoid hypoxia, hypercapnia, hyperthermia, seizures, and drugs that increase cerebral blood flow), no other anesthetic problems should [accesspediatrics.mhmedical.com]

• Aniridia

  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, [typeset.io]

  The more recent description of this syndrome include mild-to-moderate mental retardation, iris and/or retinal colobomata or “partial aniridia,” microphthalmia, cataract, nystagmus, truncal obesity, short stature, preaxial polydactyly, and (particularly [accesspediatrics.mhmedical.com]

• Broad-Based Gait

  In 1934, Biemond described a 58-year-old woman suffering from severe cerebellar ataxia with unsteady, broad-based gait, mild dysdiadochokinesia, and dysmetria that started about 4 years earlier. She also reported a change ... [accesspediatrics.mhmedical.com]

• Seizure

  Other than management of adipositas and potentially increased ICP (ie, maintain adequate cerebral perfusion pressure and avoid hypoxia, hypercapnia, hyperthermia, seizures, and drugs that increase cerebral blood flow), no other anesthetic problems should [accesspediatrics.mhmedical.com]

• Hypercapnia

  Other than management of adipositas and potentially increased ICP (ie, maintain adequate cerebral perfusion pressure and avoid hypoxia, hypercapnia, hyperthermia, seizures, and drugs that increase cerebral blood flow), no other anesthetic problems should [accesspediatrics.mhmedical.com]

(January 2018) Treatment[edit] This section is empty. You can help by adding to it. (January 2018) History[edit] It was first described in 1934 by Dutch neurologist Arie Biemond (1902–1973). [en.wikipedia.org]

Treatment References Article Title: Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes Verloes A, Temple IK, Bonnet S, Bottani A [disorders.eyes.arizona.edu]

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

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

The contrasting findings of our study in adult SCD patients as compared to these previous studies could be explained by the etiological difference in developing ACS between children and adults. [onlinelibrary.wiley.com]

Epidemiology It has been described in four generations of a family. Visit the Orphanet disease page for more resources. [rareguru.com]

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 It has been described in four generations of a family. Last updated: 6/1/2007 Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

However, these studies were performed in pediatric patients and no studies have been performed in adult SCD patients so far despite the pathophysiological difference of ACS between these populations.2 In the present study, we aimed to evaluate the efficacy [onlinelibrary.wiley.com]

Pathophysiology Genetics Little is known about the inheritance or genetic defect responsible. [wikidoc.org]

Although a direct effect on the development of ACS cannot be excluded, the preventive effect on ACS is most likely due to prevention of VOC primarily as indicated by the identical rate of effect on VOC and ACS prevention in the landmark study of Charache [onlinelibrary.wiley.com]