{"orpha":99642,"name":"Spondyloepimetaphyseal dysplasia, Handigodu type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99642/","orphanet_url":"https://www.orpha.net/en/disease/detail/99642","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Handigodu","definition":"La dysplasie spondylo-épimétaphysaire type Handigodu est une dysplasie primaire osseuse, génétique, rare. Elle se caractérise par trois phénotypes distincts : 1) des patients de taille moyenne avec des changements ostéo-arthritiques douloureux au niveau des articulations de la hanche, sans anomalie spinale. 2) des patients de petite taille présentant principalement un raccourcissement du tronc, une amplitude des bras dépassant la taille, des changements dysplasiques au niveau des hanches et divers degrés de platyspondylie. 3) des patients présentant un nanisme, de nombreuses anomalies squelettiques associées (surtout au niveau des genoux et des mains) et une dysplasie épiphysaire sévère (des hanches, des genoux, des mains et des poignets), associées à une platyspondylie significative. La plupart des patients ne peuvent pas marcher sur de longues distances et beaucoup présentent une diminution des espaces interarticulaires, ainsi que des changements sclérotiques et kystiques à l'imagerie."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Handigodu","definition":"Eine seltene, genetisch bedingte, primäre Knochendysplasie-Erkrankung, die durch drei unterschiedliche Phänotypen gekennzeichnet ist: 1) Patienten mit durchschnittlicher Körpergröße mit schmerzhaften, osteoarthritischen Veränderungen der Hüftgelenke und ohne Wirbelsäulenanomalien 2) kleinwüchsige Patienten mit vorwiegend Rumpfverkürzung, einer die Körpergröße übersteigenden Armspanne, dysplastischen Veränderungen der Hüften und unterschiedlichen Graden von Platyspondylie, und 3) Patienten mit Kleinwuchs und verschiedenen assoziierten Skelettanomalien (insbesondere der Knie und Hände) und schweren epiphysären Dysplasien (von Hüften, Knien, Händen, Handgelenken) in Verbindung mit signifikanter Platyspondylie. Die meisten Betroffenen können keine langen Strecken gehen. In der Bildgebung zeigen sich häufig eine verringerte Gelenkspalte sowie sklerotische und zystische Veränderungen."},"es":{"name":"Displasia espondiloepimetafisaria tipo Handigodu","definition":"La displasia espondiloepimetafisaria, tipo Handigodu, es una displasia ósea primaria, genética y poco frecuente caracterizada por tres fenotipos distintivos: 1) pacientes de estatura media con cambios osteoartríticos dolorosos de las articulaciones de la cadera y sin anomalías espinales; 2) pacientes de estatura baja con predominio del acortamiento del tronco, longitud de los brazos extendidos superior a la altura, cambios displásicos de las caderas y diversos grados de platispondilia; y 3) pacientes con enanismo, diversas anomalías esqueléticas asociadas (particularmente rodillas y manos) y displasia epifisaria grave (de caderas, rodillas, manos, muñecas) con platispondilia significativa. La mayoría de los afectados es incapaz de caminar largas distancias y muchos tienen espacios articulares reducidos, así como cambios escleróticos y quísticos en las imágenes radiológicas."},"it":{"name":"Displasia spondiloepimetafisaria, tipo Handigodu","definition":"La displasia spondilo-epi-metafisaria, tipo Handigodu è una displasia scheletrica primitiva genetica rara, caratterizzata da tre quadri clinici distinti: 1) statura nella media con anomalie osteoartritiche dolorose alle articolazioni delle anche, in assenza di anomalie spinali; 2) bassa statura con accorciamento del tronco, le braccia allargate superano in lunghezza l'altezza, anomalie displastiche delle anche e platispondilia di grado variabile; 3) nanismo, anomalie scheletriche (soprattutto delle ginocchia e delle mani) e displasia epifisaria grave (delle anche, ginocchia, mani e polsi), associata a grave platispondilia. La maggior parte dei pazienti non riesce a camminare per lunghe distanze, mentre molti di essi mostrano una riduzione degli spazi articolari e anomalie sclerotiche e cistiche evidenti alle immagini diagnostiche."},"nl":{"name":"Spondylo-epimetafysaire dysplasie, Handigodu-type","definition":"Spondylo-epimetafysaire dysplasie, Handigodu-type is een zeldzame, genetische, primaire botdysplasie die gekarakteriseerd wordt door drie afzonderlijke fenotype, namelijk: 1) patiënten met een gemiddelde lengte met pijnlijke, osteoartritische veranderingen aan de heupgewrichten en geen afwijkingen aan de wervelkolom, 2) patiënten met een kleine gestalte met vooral een kortere romp, een armwijdte groter dan de lengte, dysplastische veranderingen aan de heupen en verschillende gradaties van platyspondylie, en 3) patiënten met dwerggroei, verscheidene geassocieerde afwijkingen van het skelet (vooral van de knieën en handen) en ernstige epifysaire dysplasie (van heupen, knieën, handen, polsen) geassocieerd met significante platyspondylie. De meeste patiënten kunnen geen lange afstanden wandelen, en velen hebben kleinere gewrichtsruimten, alsook sclerotische en cystische veranderingen bij beeldvorming."},"pt":{"name":"Displasia espondiloepimetafisária, tipo Handigodu"},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa, typ Handigodu"},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ Handigodu"},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Хандигоду","definition":"Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging."},"zh":{"name":"脊柱骨骺干骺端发育不良Hangdigodu型","definition":"脊柱干骺端发育不良Handigodu型是一种罕见的遗传性原发性骨发育不良疾病，具有三种不同的表型，即：1)平均身高的患者伴有髋关节疼痛和骨关节炎改变，不伴脊柱异常；2)身材矮小的患者，主要表现为躯干缩短、臂展超过身高、髋关节发育不良和不同程度的颈椎病；3)侏儒症患者，各种相关的骨骼异常(尤其是膝盖和手)、严重的骨骺发育不良(尤其是膝部和手部)。大多数患者不能长距离行走，许多患者影像学上出现关节间隙缩小、硬化性和囊性改变。"},"tr":{"name":"Spondiloepimetafizyal displazi, Handigodu tipi"}},"xrefs":[{"source":"OMIM","code":"613343","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2048058677"},{"source":"MONDO","code":"0013233","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150545","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":234.0,"area":"Worldwide","status":"Validated","source":"7886470[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-10","source":"9375727[PMID]_20607037[PMID]_22116201[PMID]","terms":[{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010575","label":"Dysplasia of the femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004594","label":"Hump-shaped mound of bone in central and posterior portions of vertebral endplate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004026","label":"Broad radial metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006387","label":"Wide distal femoral metaphysis","frequency":"Occasional (29-5%)","criteria":null}]}}