Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. <ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> | Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. <ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> | ||
==Differentiation of from other syndromes== | |||
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to Cockayne syndrome.The later has similar dysmorphism and mental retardition but has more of skeletal involvement. | |||
==Epidemiology and Demography== | ==Epidemiology and Demography== | ||
Prevalence of this disease is less than 1 per million.<ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> This syndrome has been described in only two families, with each family containing two affected sibs. <ref name="urlOrphanet: Bonnemann Meinecke Reich syndrome">{{cite web |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1261 |title=Orphanet: Bonnemann Meinecke Reich syndrome |format= |work= |accessdate=}}</ref> | Prevalence of this disease is less than 1 per million.<ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> This syndrome has been described in only two families, with each family containing two affected sibs. <ref name="urlOrphanet: Bonnemann Meinecke Reich syndrome">{{cite web |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1261 |title=Orphanet: Bonnemann Meinecke Reich syndrome |format= |work= |accessdate=}}</ref> | ||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
The onset of disease is in first year of life leading to mild hepatic impairment and metal retardation. | |||
===Complications=== | ===Complications=== | ||
* [[Hepatic encephalopathy]] | * [[Hepatic encephalopathy]] | ||
* [[Mental retardation]] | * [[Mental retardation]] | ||
* [[Vision loss]] | * [[Vision loss]] | ||
==Diagnosis== | |||
===Symptoms=== | |||
==References== | ==References== | ||
Revision as of 13:33, 3 August 2012
| Bonnemann-Meinecke-Reich syndrome | |
| ICD-10 | G31.8 |
|---|---|
| OMIM | 225755 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Encephalopathy - intracerebral calcification - retinal degeneration
Overview
Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the retina.
Pathophysiology
Genetics
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. [1]
Differentiation of from other syndromes
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to Cockayne syndrome.The later has similar dysmorphism and mental retardition but has more of skeletal involvement.
Epidemiology and Demography
Prevalence of this disease is less than 1 per million.[1] This syndrome has been described in only two families, with each family containing two affected sibs. [2]
Natural History, Complications and Prognosis
The onset of disease is in first year of life leading to mild hepatic impairment and metal retardation.