Macroglossia: Difference between revisions
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*[[Hurler syndrome]] | *[[Hurler syndrome]] | ||
*[[Immunodeficiency, centromere instability and facial anomalies syndrome]] | *[[Immunodeficiency, centromere instability and facial anomalies syndrome]] | ||
==Overview== | |||
The sclera is a vascularized connective tissue structure of the [[eye]] composed of several types of [[collagen]] fibers, mainly collagen type I as well as [[elastin]], [[proteoglycans]] and [[glycoproteins]]. [[Blue sclera]] is caused by the slimness and transparency of the collagen fibers of the sclera that allow the visualization of the [[uvea]]. | |||
==Causes== | |||
===Life Threatening Causes=== | |||
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. | |||
===Common Causes=== | |||
* [[Alkaptonuria ]] | |||
* [[Ehlers-Danlos Syndrome]] | |||
* [[Hypophosphatasia]] | |||
* Juvenile [[Paget's disease]] | |||
* [[Marfan's syndrome]] | |||
* [[Osteogenesis imperfecta]] | |||
*[[Pseudoxanthoma elasticum]] | |||
===Causes by Organ System=== | |||
{|style="width:80%; height:100px" border="1" | |||
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular''' | |||
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | [[Loeys-Dietz syndrome]], | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Chemical / poisoning''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Dermatologic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Drug Side Effect''' | |||
|bgcolor="Beige"| [[Retigabine]] | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Ear Nose Throat''' | |||
|bgcolor="Beige"| [[Van der Hoeve's Syndrome]] | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Endocrine''' | |||
|bgcolor="Beige"| [[Laron dwarfism]] | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Environmental''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Gastroenterologic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Genetic''' | |||
|bgcolor="Beige"| [[Alkaptonuria ]], developmental delay hypotonia extremities hypertrophy, [[Ehlers-Danlos Syndrome]], [[incontinentia pigmenti]], Juvenile [[Paget's disease]], [[laron dwarfism]], [[lobstein disease ]], [[Loeys-Dietz syndrome]], [[marfan's syndrome ]], marshall-smith-weaver syndrome, [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], [[recurrent hereditary polyserositis]], willems de vries syndrome. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Hematologic''' | |||
|bgcolor="Beige"| [[Diamond-Blackfan anemia]], [[hypophosphatasia]]. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Iatrogenic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Infectious Disease''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Musculoskeletal / Ortho''' | |||
|bgcolor="Beige"| [[Ehlers-Danlos Syndrome]], Juvenile [[Paget's disease]], [[lobstein disease ]], [[Loeys-Dietz syndrome]], [[marfan's syndrome ]], marshall-smith-weaver syndrome, [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], osteoporosis-pseudoglioma syndrome, pelvic dysplasia arthrogryposis of lower limbs, pilo dento ungular dysplasia microcephaly, [[pseudoxanthoma elasticum]], ray-peterson-scott syndrome, spondyloepimetaphyseal dysplasia joint laxity, [[Van der Hoeve's Syndrome]]. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Neurologic''' | |||
|bgcolor="Beige"| Bd syndrome, chitayat-moore-del bigio syndrome, daentl-townsend-siegel syndrome, developmental delay hypotonia extremities hypertrophy, osteoporosis-pseudoglioma syndrome, ray-peterson-scott syndrome. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Nutritional / Metabolic''' | |||
|bgcolor="Beige"| [[Alkaptonuria ]], [[hypophosphatasia]]. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Obstetric/Gynecologic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Oncologic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Ophthalmologic''' | |||
|bgcolor="Beige"| [[Alkaptonuria ]], Bd syndrome, [[Diamond-Blackfan anemia]], Grant syndrome, [[hypophosphatasia]], [[incontinentia pigmenti ]], [[Jansen's metaphyseal chondrodysplasia]], [[osteogenesis imperfecta]], [[recurrent hereditary polyserositis]], [[Van der Hoeve's Syndrome]], [[Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency ]]. | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Overdose / Toxicity''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Psychiatric''' | |||
|bgcolor="Beige"| Chitayat-moore-del bigio syndrome | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Pulmonary''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Renal / Electrolyte''' | |||
|bgcolor="Beige"| Daentl-townsend-siegel syndrome | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Rheum / Immune / Allergy''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Sexual''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Trauma''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Urologic''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|-bgcolor="LightSteelBlue" | |||
| '''Miscellaneous''' | |||
|bgcolor="Beige"| No underlying causes | |||
|- | |||
|} | |||
===Causes in Alphabetical Order=== | |||
{{Congenital malformations and deformations of digestive system}} | {{Congenital malformations and deformations of digestive system}} | ||
Revision as of 16:22, 26 October 2015
| Macroglossia | |
| ICD-10 | Q38.2 |
|---|---|
| ICD-9 | 529.8 |
| OMIM | 153630 |
| DiseasesDB | 7689 |
| MeSH | D008260 |
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WikiDoc Resources for Macroglossia |
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Articles |
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Most recent articles on Macroglossia Most cited articles on Macroglossia |
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Media |
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Powerpoint slides on Macroglossia |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on Macroglossia at Clinical Trials.gov Clinical Trials on Macroglossia at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on Macroglossia
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Patient resources on Macroglossia Discussion groups on Macroglossia Patient Handouts on Macroglossia Directions to Hospitals Treating Macroglossia Risk calculators and risk factors for Macroglossia
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Healthcare Provider Resources |
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Causes & Risk Factors for Macroglossia |
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Continuing Medical Education (CME) |
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International |
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Business |
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Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Macroglossia is the medical term for unusual enlargement (hypertrophy) of the tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.
Causes
Macroglossia is a feature of the following disorders:
- Acromegaly
- Amyloidosis (in primary and myeloma-related)
- Beckwith-Wiedemann syndrome
- Congenital hypothyroidism
- Hurler syndrome
- Immunodeficiency, centromere instability and facial anomalies syndrome
Overview
The sclera is a vascularized connective tissue structure of the eye composed of several types of collagen fibers, mainly collagen type I as well as elastin, proteoglycans and glycoproteins. Blue sclera is caused by the slimness and transparency of the collagen fibers of the sclera that allow the visualization of the uvea.
Causes
Life Threatening Causes
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
Common Causes
- Alkaptonuria
- Ehlers-Danlos Syndrome
- Hypophosphatasia
- Juvenile Paget's disease
- Marfan's syndrome
- Osteogenesis imperfecta
- Pseudoxanthoma elasticum
Causes by Organ System
| Cardiovascular | Loeys-Dietz syndrome, |
| Chemical / poisoning | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | Retigabine |
| Ear Nose Throat | Van der Hoeve's Syndrome |
| Endocrine | Laron dwarfism |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | Alkaptonuria , developmental delay hypotonia extremities hypertrophy, Ehlers-Danlos Syndrome, incontinentia pigmenti, Juvenile Paget's disease, laron dwarfism, lobstein disease , Loeys-Dietz syndrome, marfan's syndrome , marshall-smith-weaver syndrome, Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, recurrent hereditary polyserositis, willems de vries syndrome. |
| Hematologic | Diamond-Blackfan anemia, hypophosphatasia. |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal / Ortho | Ehlers-Danlos Syndrome, Juvenile Paget's disease, lobstein disease , Loeys-Dietz syndrome, marfan's syndrome , marshall-smith-weaver syndrome, Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, osteoporosis-pseudoglioma syndrome, pelvic dysplasia arthrogryposis of lower limbs, pilo dento ungular dysplasia microcephaly, pseudoxanthoma elasticum, ray-peterson-scott syndrome, spondyloepimetaphyseal dysplasia joint laxity, Van der Hoeve's Syndrome. |
| Neurologic | Bd syndrome, chitayat-moore-del bigio syndrome, daentl-townsend-siegel syndrome, developmental delay hypotonia extremities hypertrophy, osteoporosis-pseudoglioma syndrome, ray-peterson-scott syndrome. |
| Nutritional / Metabolic | Alkaptonuria , hypophosphatasia. |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | Alkaptonuria , Bd syndrome, Diamond-Blackfan anemia, Grant syndrome, hypophosphatasia, incontinentia pigmenti , Jansen's metaphyseal chondrodysplasia, osteogenesis imperfecta, recurrent hereditary polyserositis, Van der Hoeve's Syndrome, Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency . |
| Overdose / Toxicity | No underlying causes |
| Psychiatric | Chitayat-moore-del bigio syndrome |
| Pulmonary | No underlying causes |
| Renal / Electrolyte | Daentl-townsend-siegel syndrome |
| Rheum / Immune / Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
Template:Congenital malformations and deformations of digestive system