Presentation
Less frequently, glomerular disease, which on occasion presents with focal segmental glomerulosclerosis and histopathologic splitting of the glomerular basement membrane, has been reported. [eurorad.org]
Effective antisecretory drugs, such as PPIs and histamine H2-receptor antagonists (H2Rs), are now available and have led to a significant decrease of this form of presentation. [revistas.unal.edu.co]
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]
Entire Body System
- Disability
Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [rarediseases.oscar.ncsu.edu]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [wikiwand.com]
People affected by Biemond syndrome have symptoms such as iris coloboma (meaning that they have a hole in the colored part of their eye), intellectual disabilities, obesity, very small or absent genitals, and postaxial polydactyly (having extra fingers [globalgenes.org]
2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability [rarediseases.info.nih.gov]
- Short Stature
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]
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]
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]
Not to be confused is the more common Biemond syndrome II (hypogonadism-short stature-coloboma-preaxial polydactyly syndrome) or Biemond ataxia distribution The frequency is given as less than 1 in 1,000,000, the cause and possible mode of inheritance [de.zxc.wiki]
stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. [rarediseases.info.nih.gov]
- Short Finger
Showing of 8 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Ataxia 0001251 Autosomal dominant inheritance 0000006 Brachydactyly Short fingers or toes 0001156 Intellectual disability [rarediseases.info.nih.gov]
- Dysostosis
Home / Disease / Biemond syndrome Overview 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 [checkorphan.org]
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]
- Multiple Congenital Anomalies
National Center for Advancing Translational Sciences Home Browse by Disease Biemond Syndrome Biemond Syndrome About the Disease Diagnosis & Treatment Living with the Disease Research Disease at a Glance Symptoms Causes Summary A rare multiple congenital [rarediseases.info.nih.gov]
Musculoskeletal
- Brachydactyly
Brachydactyly-nystagmus-cerebellar ataxia syndrome Biemond syndrome type 1 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA Biemond syndrome edit Language Label Description Also known as English Biemond syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome [wikidata.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Brachydactyly - nystagmus - cerebellar ataxia, Brachydactyly, nystagmus and cerebellar ataxia, Brachydactyly-nystagmus-cerebellar ataxia syndrome See more [rareguru.com]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
Individual evidence ↑ a b c Brachydactyly - nystagmus - cerebellar ataxia. In: Orphanet (Rare Disease Database). ↑ A. Biemond: brachydactylous, nystagmus en cerebellaire ataxia as familiair Syndroom. [de.zxc.wiki]
- Decrease in Height
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]
[…] body height Small stature [ more ] 0004322 Showing of 7 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]
Eyes
- Strabismus
Intellectual deficit and strabismus are also reported in some patients. [wikidata.org]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [wikiwand.com]
(Definition/Background Information) Biemond Syndrome or Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia Intellectual deficit and strabismus are also reported in some patients It has [dovemed.com]
Intellectual deficit and strabismus are also reported in some patients. 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. [rarediseases.info.nih.gov]
- 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]
Early signs of retinal dysfunction may not be apparent until the age of 7-8 years, when night blindness insidiously occurs7. [eoftalmo1.hospedagemdesites.ws]
- 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]
Fundoscopy revealed discoloration of the retinal pigment epithelium, giving the fundus a grayish color and mottled appearance; a decrease in vessel diameter; paleness of the optic papilla; deposits of macular and peripheral bone spicule-shaped pigments [eoftalmo1.hospedagemdesites.ws]
- Visual Impairment
Due to cone-rod dystrophy, people will have progressive visual impairment. It occurs as the retina gradually deteriorates. The visual prognosis for children is poor and the problem with night vision become apparent by mid-childhood. [bredagenetics.com]
However, it is important to be sure that suspected disabilities (eg: delayed speech or reading skills) are not due to underlying visual impairment. [rarediseases.org]
- Visual Impairment
Due to cone-rod dystrophy, people will have progressive visual impairment. It occurs as the retina gradually deteriorates. The visual prognosis for children is poor and the problem with night vision become apparent by mid-childhood. [bredagenetics.com]
However, it is important to be sure that suspected disabilities (eg: delayed speech or reading skills) are not due to underlying visual impairment. [rarediseases.org]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
Colobomas and polydactyly have been found in relatives of patients with Biemond syndrome suggesting that this may be an autosomal dominant disorder with variable penetrance. [disorders.eyes.arizona.edu]
Genetic inheritance Both autosomal recessive and dominant inheritance have been suggested, although the former mode is favored. [accesspediatrics.mhmedical.com]
Ito et al. (5) suggest that pancreatic gastrinomas may originate from islets or duct cells. [revistas.unal.edu.co]
Neurologic
- Ataxia
Brachydactyly-nystagmus-cerebellar ataxia syndrome Biemond syndrome type 1 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA Biemond syndrome edit Language Label Description Also known as English Biemond syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome [wikidata.org]
Individual evidence ↑ a b c Brachydactyly - nystagmus - cerebellar ataxia. In: Orphanet (Rare Disease Database). ↑ A. Biemond: brachydactylous, nystagmus en cerebellaire ataxia as familiair Syndroom. [de.zxc.wiki]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Brachydactyly - nystagmus - cerebellar ataxia, Brachydactyly, nystagmus and cerebellar ataxia, Brachydactyly-nystagmus-cerebellar ataxia syndrome See more [rareguru.com]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
- Nystagmus
Brachydactyly-nystagmus-cerebellar ataxia syndrome Biemond syndrome type 1 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA Biemond syndrome edit Language Label Description Also known as English Biemond syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome [wikidata.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Brachydactyly - nystagmus - cerebellar ataxia, Brachydactyly, nystagmus and cerebellar ataxia, Brachydactyly-nystagmus-cerebellar ataxia syndrome See more [rareguru.com]
Individual evidence ↑ a b c Brachydactyly - nystagmus - cerebellar ataxia. In: Orphanet (Rare Disease Database). ↑ A. Biemond: brachydactylous, nystagmus en cerebellaire ataxia as familiair Syndroom. [de.zxc.wiki]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
- Cerebellar Ataxia
Brachydactyly-nystagmus-cerebellar ataxia syndrome Biemond syndrome type 1 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA Biemond syndrome edit Language Label Description Also known as English Biemond syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome [wikidata.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Brachydactyly - nystagmus - cerebellar ataxia, Brachydactyly, nystagmus and cerebellar ataxia, Brachydactyly-nystagmus-cerebellar ataxia syndrome See more [rareguru.com]
Biemond syndrome Other names Brachydactyly–nystagmus–cerebellar ataxia syndrome Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. [en.wikipedia.org]
Individual evidence ↑ a b c Brachydactyly - nystagmus - cerebellar ataxia. In: Orphanet (Rare Disease Database). ↑ A. Biemond: brachydactylous, nystagmus en cerebellaire ataxia as familiair Syndroom. [de.zxc.wiki]
- 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]
Treatment
Treatment Options None known. References Template:WH Template:WS [wikidoc.org]
Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Biemond syndrome. [globalgenes.org]
Conclusions The ZES is a rare entity that requires high clinical suspicion to achieve diagnosis and allow an adequate treatment. [revistas.unal.edu.co]
(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]
Prognosis
The visual prognosis for children is poor and the problem with night vision become apparent by mid-childhood. Mutations in several genes are known to cause this syndrome, which shows autosomal recessive pattern of inheritance. [bredagenetics.com]
The prognosis of the patient was considered as favorable in the long term, because besides the satisfactory results of the surgery, not having metastasis of the disease greatly increases survival. [revistas.unal.edu.co]
Etiology
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
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]
Epidemiology It has been described in four generations of a family. Visit the Orphanet disease page for more resources. [rareguru.com]
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]
Pathophysiology
Pathophysiology Genetics Little is known about the inheritance or genetic defect responsible. [wikidoc.org]
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]
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]
Prevention
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]
Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]
Due to administrative procedures, the patient was transferred to a tertiary care hospital in Bogotá D.C., where her treatment continued under the concept of the general surgery service of that institution; this situation prevented an adequate medical [revistas.unal.edu.co]