{"orpha":646136,"name":"Dysplastic cortical hyperostosis, Al-Gazali type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare dysplastic cortical hyperostosis characterized by brachycephaly, short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses, extremities with severe brachydactyly and facial dysmorphism (including flat face, hypertelorism and low-set ears). Additional clinical features include hypoplastic thorax and hypertrichosis. Histology of the bone tissue and the growth plate are normal. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-646136/","orphanet_url":"https://www.orpha.net/en/disease/detail/646136","names":{"fr":{"name":"Hyperostose corticale dysplasique type Al-Gazali","definition":"Hyperostose corticale dysplasique rare caractérisée par une brachycéphalie, des os tubulaires courts et mal formés avec une diaphyse large et des métaphyses lisses et arrondies, une brachydactylie sévère des membres et une dysmorphie faciale (à type de visage aplati, d'hypertélorisme et d'oreilles d'implantation basse). D'autres caractéristiques cliniques incluent une hypoplasie du thorax et une hypertrichose. L'histologie du tissu osseux et de la plaque de croissance est normale. Il s'agit d'une pathologie létale associée à une anasarque foetale sévère et à un polyhydramnios."},"de":{"name":"Dysplastische kortikale Hyperostose Typ Al-Gazali","definition":"Eine Form der seltenen dysplastischen kortikalen Hyperostose, die durch einen schmalen Brustkorb und kurze Gliedmaßen mit einer generalisierten, symmetrischen kortikalen Verdickung im gesamten Skelett, insbesondere in den langen Knochen und Rippen, gekennzeichnet ist. Weitere Merkmale können sklerotische Mittelhandknochen und Mittelfußknochen mit proximaler Verjüngung und leichter Sklerose des Beckens sein. Am Schädel oder Unterkiefer wurde keine Kortikalisverdickung festgestellt. Die Größe der Hände und Füße ist normal. Es wurden Mikrozephalie, abnorme Lungensegmente, Hepatosplenomegalie, schlecht entwickelte zerebrale Sulci und eine vollständige Nierenduplikation beobachtet. Es handelt sich um eine letale Erkrankung, die mit schwerem fetalem Hydrops und Polyhydramnion einhergeht."},"es":{"name":"Hiperostosis cortical displásica tipo Al-Gazali","definition":"Es una forma poco frecuente de hiperostosis cortical displásica caracterizada por tórax angosto, acortamiento de las extremidades con engrosamiento cortical generalizado y simétrico en todo el esqueleto, especialmente de los huesos largos y de las costillas. Otras características incluyen metacarpianos y metatarsianos escleróticos con estrechamiento proximal y esclerosis leve de la pelvis. No se ha descrito engrosamiento cortical del cráneo ni de la mandíbula. El tamaño de las manos y de los pies es normal. Se ha observado microcefalia, anomalías de la segmentación pulmonar, hepatoesplenomegalia, surcos cerebrales poco desarrollados y duplicación renal completa. Es una afección letal asociada a hidropesía fetal grave y polihidramnios."},"it":{"name":"Iperostosi corticale displastica tipo Al-Gazali"},"nl":{"name":"Dysplastische corticale hyperostose, Al-Gazali type","definition":"Een vorm van zeldzame dysplastische corticale hyperostose, gekenmerkt door een smalle borstkas, korte ledematen met gegeneraliseerde, symmetrische corticale verdikking doorheen het skelet, vooral in pijpbeenderen en ribben. Mogelijke bijkomende kenmerken zijn onder meer sclerotische metacarpalen en metatarsalen met proximaal een abnormaal spits toelopende vorm, en milde sclerose van het bekken. Er werd geen corticale verdikking gerapporteerd in de schedel of de onderkaak. Handen en voeten hebben een normale grootte. Microcefalie, abnormale segmentatie van de longen, hepatosplenomegalie, ondermaats ontwikkelde cerebrale sulci en volledige duplicatie van nier werden waargenomen. Het is dodelijke aandoening geassocieerd met ernstige hydrops foetalis en polyhydramnion."},"pt":{"name":"Hiperostose cortical displásica, tipo Al-Gazali"},"pl":{"name":"Dysplastyczna hiperostoza korowa typu Al-Gazali","definition":"Postać rzadkiej dysplastycznej hiperostozy korowej charakteryzująca się wąską klatką piersiową, krótkimi kończynami z uogólnionym, symetrycznym pogrubieniem warstwy korowej kości w całym szkielecie, szczególnie w kościach długich i żebrach. Dodatkowe cechy mogą obejmować sklerotyczne kości śródręcza i śródstopia z proksymalnym zwężeniem i łagodną stwardnieniem miednicy. Nie odnotowano pogrubienia warstwy korowej w kościach czaszki lub żuchwy. Rozmiar dłoni i stóp jest prawidłowy. Zaobserwowano małogłowie, nieprawidłową segmentację płuc, hepatosplenomegalię, słabo rozwinięte bruzdy mózgowe i całkowitą zdwojenie nerek. Jest to schorzenie o śmiertelnym przebiegu związane z ciężkim obrzękiem płodu i wielowodziem."},"cs":{"name":"Dysplastická kortikální hyperostóza, typu Al-Gazali"},"uk":{"name":"Диспластичний кортикальний гіперостоз, тип Аль-Газалі"}},"xrefs":[{"source":"OMIM","code":"601356","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":646139,"name":"Dysplastic cortical hyperostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-16","source":"36896612[PMID]","terms":[{"hpo":"HP:0009106","label":"Abnormal pelvis bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031096","label":"Delayed vertebral ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}