Borjeson syndrome: Difference between revisions
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{{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | {{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | ||
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==Overview== | ==Overview== | ||
Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, [[epilepsy]], [[hypogonadism]] and [[facial dysmorphism]]. | Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, [[epilepsy]], [[hypogonadism]] and [[facial dysmorphism]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
The disorder is inherited as an X-linked recessive trait and is caused by mutations in the PHF6 gene, which maps to the human Xq26q27 region. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. | The disorder is inherited as an X-linked recessive trait and is caused by mutations in the PHF6 gene, which maps to the human Xq26q27 region. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. | ||
== | ==Epidemiology and Demographics== | ||
The differential diagnosis of obesity related syndromes includes the [[Prader-Willi]], [[Bardet-Biedl]], or [[Wilson-Turner]] | The incidence of the sporadic forms is unknown. | ||
==Differentiating Borjeson syndrome from other Diseases== | |||
The differential diagnosis of obesity related syndromes includes the [[Prader-Willi]], [[Bardet-Biedl]], or [[Wilson-Turner syndrome]]s. | |||
==Diagnosis== | ==Diagnosis== | ||
=== | ===Symptoms=== | ||
*Walking is acquired late. | *Walking is acquired late. | ||
*Adult forms usually combine intellectual deficit with [[seizures]], poor muscular development and hyperextensible joints. | |||
*Frequent visual problems ([[hyperopia]], cataract with onset before age 30) have also been reported. | |||
===Physical Examination=== | |||
*Mixed [[hypogonadism]] with small soft [[testes]] (testicular volume: 8mL), [[micropenis]], [[sparse pubic hair]], and [[low testosterone levels]] are also present and [[gynecomastia]] appears after [[puberty]]. | |||
*Progressive dysmorphism occurs with [[coarse facies]] due to thickened connective tissue, [[deep-set eyes]] accentuated by [[prominent eyebrows]], [[narrow palpebral openings]] and/or [[ptosis]], and long, thick ears with large but normally shaped lobes. | |||
*Newborns are [[obese]], [[hypotonic]], and have [[large ears]] and [[micropenis]]. | |||
The clinical history and physical findings in the affected males reveal that the phenotype becomes milder, varies and evolves with age. | The clinical history and physical findings in the affected males reveal that the [[phenotype]] becomes milder, varies and evolves with age. | ||
*Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. | *Generally, in the first year, the babies are [[floppy]], with [[failure to thrive]], [[big ears]], and [[small external genitalia]]. | ||
*As schoolboys, the picture is one of learning problems and moderate short stature, with emerging truncal obesity and gynecomastia. | *As schoolboys, the picture is one of [[learning problems]] and moderate [[short stature]], with emerging [[truncal obesity]] and [[gynecomastia]]. | ||
*Head circumferences are usually normal but macrocephaly may be seen. | *Head circumferences are usually normal but [[macrocephaly]] may be seen. | ||
*Big ears and small genitalia remain. | *[[Big ears]] and [[small genitalia]] remain. | ||
*The toes are short and fingers tapered and malleable. | *The toes are short and fingers tapered and malleable. | ||
*In late adolescence and adult life, the classically described heavy facial appearance emerges. | *In late adolescence and adult life, the classically described heavy facial appearance emerges. | ||
==Treatment== | ==Treatment== | ||
Testosterone supplementation may enhance intellectual performance and induce weight loss when testosterone levels are low.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=127</ref> | Testosterone supplementation may enhance intellectual performance and induce weight loss when testosterone levels are low.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=127</ref> | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Disease]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 19:43, 30 July 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S
Synonyms and keywords: Borjeson-Forssman-Lehmann syndrome , BFL syndrome, Mental deficiency - epilepsy - endocrine disorders.
Overview
Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, epilepsy, hypogonadism and facial dysmorphism.
Pathophysiology
Genetics
The disorder is inherited as an X-linked recessive trait and is caused by mutations in the PHF6 gene, which maps to the human Xq26q27 region. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation.
Epidemiology and Demographics
The incidence of the sporadic forms is unknown.
Differentiating Borjeson syndrome from other Diseases
The differential diagnosis of obesity related syndromes includes the Prader-Willi, Bardet-Biedl, or Wilson-Turner syndromes.
Diagnosis
Symptoms
- Walking is acquired late.
- Adult forms usually combine intellectual deficit with seizures, poor muscular development and hyperextensible joints.
- Frequent visual problems (hyperopia, cataract with onset before age 30) have also been reported.
Physical Examination
- Mixed hypogonadism with small soft testes (testicular volume: 8mL), micropenis, sparse pubic hair, and low testosterone levels are also present and gynecomastia appears after puberty.
- Progressive dysmorphism occurs with coarse facies due to thickened connective tissue, deep-set eyes accentuated by prominent eyebrows, narrow palpebral openings and/or ptosis, and long, thick ears with large but normally shaped lobes.
- Newborns are obese, hypotonic, and have large ears and micropenis.
The clinical history and physical findings in the affected males reveal that the phenotype becomes milder, varies and evolves with age.
- Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia.
- As schoolboys, the picture is one of learning problems and moderate short stature, with emerging truncal obesity and gynecomastia.
- Head circumferences are usually normal but macrocephaly may be seen.
- Big ears and small genitalia remain.
- The toes are short and fingers tapered and malleable.
- In late adolescence and adult life, the classically described heavy facial appearance emerges.
Treatment
Testosterone supplementation may enhance intellectual performance and induce weight loss when testosterone levels are low.[1]