{"orpha":77296,"name":"Morgagni-Stewart-Morel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperostosis frontalis interna"],"definition":"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77296/","orphanet_url":"https://www.orpha.net/en/disease/detail/77296","names":{"fr":{"name":"Syndrome de Morgagni-Stewart-Morel","synonyms":["Hyperostose frontale interne"],"definition":"Malformation crânienne rare caractérisée par une hyperostose frontale interne, variablement associée à des troubles métaboliques et endocriniens (tels que, entre autres, l'obésité, le diabète sucré et l'hirsutisme). La compression par épaississement de la calvaria peut entraîner une atrophie cérébrale et des troubles cognitifs, des symptômes neuropsychiatriques, des céphalées et une épilepsie. La maladie touche principalement les femmes."},"de":{"name":"Stewart-Morel-Morgagni-Syndrom","synonyms":["Hyperostosis frontalis interna"],"definition":"Eine seltene Fehlbildung des Schädels, die durch eine Hyperostose frontalis interna gekennzeichnet ist und in unterschiedlicher Weise mit metabolischen und endokrinen Störungen (wie Adipositas, Diabetes mellitus, Hirsutismus u. a.) einhergeht. Die Kompression durch die Kalvarialverdickung kann zu einer zerebralen Atrophie führen und mit kognitiven Beeinträchtigungen, neuropsychiatrischen Symptomen, Kopfschmerzen und Epilepsie einhergehen. Von der Störung sind überwiegend Frauen betroffen."},"es":{"name":"Síndrome de Morgnagni-Stewart-Morel","definition":"Es una malformación craneal poco frecuente caracterizada por hiperostosis frontal interna, asociada de forma variable a trastornos metabólicos y endocrinos (tales como obesidad, diabetes mellitus e hirsutismo, entre otros). La compresión resultante del engrosamiento de la calota puede derivar en atrofia cerebral, presentándose con afectación cognitiva, síntomas neuropsiquiátricos, cefaleas y epilepsia. El trastorno afecta predominantemente a mujeres."},"it":{"name":"Sindrome di Morgagni-Stewart-Morel","synonyms":["Iperostosi frontale interna"],"definition":"Si tratta di una malformazione cranica rara, caratterizzata da iperostosi frontale interna, variabilmente associata a malattie metaboliche ed endocrine (obesità, diabete mellito e irsutismo). La compressione secondaria all'ispessimento della volta cranica può causare atrofia cerebrale associata a deficit cognitivo, sintomi neuropsichiatrici, cefalea ed epilessia. La malattia colpisce prevalentemente le donne."},"nl":{"name":"Syndroom van Morgagni-Stewart-Morel","synonyms":["Hyperostosis frontalis interna"],"definition":"Een zeldzame malformatie van schedel, gekarakteriseerd door hyperostosis frontalis interna, variabel geassocieerd met metabole en endocriene aandoeningen (zoals onder meer obesitas, diabetes mellitus, en hirsutisme). Compressie door verdikking van schedeldak kan leiden tot cerebrale atrofie en zich manifesteren met cognitieve functiestoornis, neuropsychiatrische symptomen, hoofdpijn, en epilepsie. De aandoening treft voornamelijk vrouwen."},"pt":{"name":"Síndrome de Morgnagni-Stewart-Morel","synonyms":["Hiperostose frontal interna"]},"pl":{"name":"Zespół Morgagniego, Stewarta i Morela","synonyms":["Hiperostoza czołowa wewnętrzna"]},"cs":{"name":"Morgagniho-Stewartův-Morelův syndrom","synonyms":["Hyperostosis frontalis interna","Morgagni-Stewart-Morelův syndrom"]},"uk":{"name":"Синдром Морганї-Стюарта-Мореля","synonyms":["Внутрішній лобовий гіперостоз"],"definition":"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women."},"zh":{"name":"Morgagni-Stewart-Morel综合征","synonyms":["额骨内板增生病"]},"tr":{"name":"Morgagni-Stewart-Morel sendromu","synonyms":["Hiperostosis frontalis interna"]}},"xrefs":[{"source":"OMIM","code":"144800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"FB80.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"52062249"},{"source":"MONDO","code":"0007766","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006957","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020494","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8593","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081545","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-22","source":"23284007[PMID]_32611657[PMID]_27698159[PMID]","terms":[{"hpo":"HP:0004438","label":"Hyperostosis frontalis interna","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0032245","label":"Abnormal metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000725","label":"Psychotic episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}