{"orpha":93302,"name":"Brachyolmia, Maroteaux type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Brachyolmia type 2"],"definition":"A rare brachyolmia characterized by short stature with a high upper-to-lower segment ratio and relatively long arms. Mild scoliosis is typically present. Radiographically, it is distinct from other types of brachyolmia, showing rounded anterior and posterior vertebral margins and variable intervertebral space widths (narrowed or broadened). Some patients also exhibit precocious ossification of the falx cerebri, metaphyseal irregularities, and small epiphyses of the proximal femora. Additional clinical features may include widely spaced nipples, clinodactyly, hypoplastic nails, pectus excavatum, joint hyperlaxity, subtle facial dysmorphism (such as a flat nose and thick lips), and mild intellectual disability. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93302/","orphanet_url":"https://www.orpha.net/en/disease/detail/93302","names":{"fr":{"name":"Brachyolmie type Maroteaux","synonyms":["Brachyolmie type 2"],"definition":"Brachyolmie rare caractérisée par une petite taille, un rapport élevé entre les segments supérieur et inférieur et des bras relativement longs. Une légère scoliose est généralement présente. Sur le plan radiographique, la maladie se distingue des autres types de brachyolmie par une forme arrondie des parties antérieures et postérieures des bords vertébraux et par des espaces intervertébraux de largeur variable (rétrécis ou élargis). Certains patients présentent également une ossification précoce de la faux du cerveau, des irrégularités métaphysaires et de petites épiphyses proximales des fémurs. D'autres signes cliniques peuvent inclure des mamelons très espacés, une clinodactylie, une hypoplasie des ongles, un thorax en entonnoir, une hyperlaxité articulaire, une dysmorphie faciale discrète (à type de nez épaté et de lèvres épaisses) et une légère déficience intellectuelle. Aucun nouveau cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Brachyolmie Typ 2","synonyms":["Brachyolmie Typ Maroteaux"],"definition":"Eine seltene Form der Brachyolmie, die durch einen Kleinwuchs mit einem hohen Verhältnis von oberem zu unterem Segment und relativ langen Armen gekennzeichnet ist. Eine leichte Skoliose ist typischerweise vorhanden. Röntgenologisch unterscheidet sie sich von anderen Arten der Brachyolmie durch abgerundete vordere und hintere Wirbelränder und variable Zwischenwirbelraumbreiten (verschmälert oder verbreitert). Einige Patienten weisen auch eine frühzeitige Verknöcherung der Falx cerebri, metaphysäre Unregelmäßigkeiten und kleine Epiphysen der proximalen Femora auf. Weitere klinische Merkmale können weit auseinander liegende Brustwarzen, Klinodaktylie, hypoplastische Nägel, Pectus excavatum, Gelenkhyperlaxie, subtile Gesichtsdysmorphien (wie eine flache Nase und dicke Lippen) und eine leichte Intelligenzminderung sein. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Braquiolmia tipo 2","synonyms":["Braquiolmia tipo Maroteaux"],"definition":"Es una braquiolmia poco frecuente caracterizada por talla baja con una relación segmento superior- segmento inferior elevada y brazos relativamente largos. Suele asociar escoliosis leve. Radiológicamente, se distingue de otros tipos de braquiolmia, mostrando márgenes vertebrales anterior y posterior redondeados y espacios intervertebrales de anchura variable (estrechados o ensanchados). Algunos pacientes presentan osificación precoz de la hoz cerebral, irregularidades metafisarias y epífisis pequeñas en los fémures proximales. Otras características clínicas pueden incluir pezones ampliamente separados, clinodactilia, hipoplasia ungueal, pectus excavatum, hiperlaxitud articular, dismorfia facial discreta (como nariz aplanada y labios gruesos) y discapacidad intelectual leve. No se han descrito más casos en la literatura desde 1989."},"it":{"name":"Brachiolmia tipo Mariteaux","synonyms":["Brachiolmia, tipo Maroteaux"],"definition":"La brachiolmia autosomica recessiva tipo Maroteaux è una forma relativamente lieve di brachiolmia (si veda questo termine), un gruppo di malattie scheletriche rare di origine genetica, caratterizzate da tronco corto/bassa statura, platispondilia generalizzata e arrotondamento dei corpi vertebrali. Non è certo se il fenotipo rappresenti una singola malattia oppure un gruppo eterogeneo di displasie ossee lievi."},"nl":{"name":"Brachyolmie, Maroteaux-type","synonyms":["Brachyolmie type 2"],"definition":"Een zeldzame brachyolmie, gekenmerkt door kleine gestalte met een grote verhouding tussen bovenste en onderste segment en relatief lange armen. Milde scoliose is doorgaans aanwezig. Radiografisch verschilt het van andere types van brachyolmie, met wervels met ronde voorste en achterste randen en intervertebrale ruimtes met variabele breedte (smaller of breder). Sommige patiënten vertonen ook voortijdige ossificatie van falx cerebri, metafysaire afwijkingen, en kleine epifyses van de proximale femora. Mogelijke bijkomende klinische kenmerken zijn ver uit elkaar staande tepels, clinodactylie, hypoplastische nagels, pectus excavatum (trechterborst), gewrichtshyperlaxiteit, subtiele faciale dysmorfie (zoals platte neus en dikke lippen), en milde intellectuele achterstand. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Braquiolmia tipo Maroteaux"},"pl":{"name":"Brachyolmia, typu Maroteaux","synonyms":["Brachyolmia typu 2"],"definition":"Rzadka, genetycznie uwarunkowana dysplazja typu kręgowo-dysplastycznego, charakteryzująca się krótkim tułowiem/niskim wzrostem, uogólnioną platyspondylią (spłaszczeniem trzonów kręgów) z zaokrągleniem trzonów kręgów. Trzony kręgów są mniej wydłużone niż u pacjentami z innymi typami tej choroby. Może towarzyszyć przedwczesne zwapnienie sierpa mózgu i niespecyficzne drobne anomalie twarzy. Od 1989 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Brachyolmie, Maroteauxův typ","synonyms":["Brachyolmie, typ 2"]},"uk":{"name":"Брахіолмія, тип Марото","synonyms":["Брахіолмія типу 2"],"definition":"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989."},"zh":{"name":"短躯干症，Maroteaux型","synonyms":["短躯干症2型"],"definition":"短躯干症中一种相对较轻的类型，是一组罕见的遗传性骨骼疾病，特征是躯干短/身材矮小、广泛的扁平椎骨、椎体圆整。目前尚不清楚该表型代表一个单一的疾病，还是异质性的一系列轻度骨骼发育不良。"},"tr":{"name":"Brakiyolmi, Maroteaux tipi","synonyms":["Brakiyolmi tip 2"]}},"xrefs":[{"source":"OMIM","code":"613678","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"707242905"},{"source":"MONDO","code":"0013360","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1293,"name":"Brachyolmia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2669482[PMID]_20503319[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2669482[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010653","label":"Abnormality of the falx cerebri","frequency":"Occasional (29-5%)","criteria":null}]}}