{"orpha":294973,"name":"Isolated humeral agenesis/hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of humerus","Isolated congenital humeral deficiency","Isolated congenital hypoplasia of humerus","Isolated humeral intercalary meromelia"],"definition":"Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294973/","orphanet_url":"https://www.orpha.net/en/disease/detail/294973","names":{"fr":{"name":"Agénésie/hypoplasie de l'humérus isolée","synonyms":["Absence congénitale de l'humérus isolée","Agénésie/hypoplasie humérale isolée","Déficit congénital de l'humérus isolé","Hypoplasie congénitale de l'humérus isolée","Méromélie intercalaire humérale isolée"],"definition":"Un trouble rare, non syndromique de réduction des membres. Il se caractérise par la présence (unilatérale ou bilatérale) d'un bras court avec un humérus sous-développé ou complètement absent, associé fréquemment à des malformations ulnaires et/ou radiales. Les patients peuvent avoir l'avant-bras directement attaché à l'épaule, l'articulation au niveau de l'épaule peut être manquante, ils peuvent être incapables d'étendre passivement le bras au-delà de la ligne mi-axillaire, l'articulation au niveau du coude peut être absente, le radius peut être courbé, et les patients peuvent présenter une ulna courte et/ou une déviation ulnaire/radiale de la main au niveau du poignet."},"de":{"name":"Humerus-Agenesie/Hypoplasie, isolierte","synonyms":["Kongenitales Fehlen des Humerus","Isolierte humerale interkalare Meromelie","Isolierte kongenitale Hypoplasie des Humerus","Isoliertes angeborenes Fehlen des Oberarmknochens"],"definition":"Die Humerus-Agenesie/Hypoplasie ist ein seltener, nicht-syndromaler Gliedmaßen-Reduktionsdefekt, der durch das ein- oder beidseitige Vorhandensein eines kurzen Arms mit vollständig fehlendem oder unterentwickeltem Humerus gekennzeichnet ist und häufig mit ulnaren und/oder radialen Fehlbildungen einhergeht. Die Patienten präsentieren sich mit einem direkt an der Schulter befestigten Unterarm, ohne Artikulation am Schultergelenk, unmöglicher passiver Streckung des Arms über die mittlere Axillarlinie hinaus, fehlenden Ellenbogengelenk, Verkrümmung der Speiche, kurzer Ulna und/oder einer ulnaren/radialen Abweichung der Hand am Handgelenk."},"es":{"name":"Agenesia/hipoplasia humeral aislada","synonyms":["Ausencia congénita aislada de húmero","Deficiencia congénita aislada de húmero","Hipoplasia congénita aislada de húmero","Meromelia intercalar humeral aislada"],"definition":"La agenesia/hipoplasia humeral es un defecto no sindrómico de reducción de las extremidades, poco frecuente, que se caracteriza por la presencia uni- o bilateral de un brazo corto con húmero completamente ausente o poco desarrollado, asociado con frecuencia con malformaciones cubitales y/o radiales. Los afectados pueden presentar el antebrazo directamente unido al hombro, sin articulación en la unión con el hombro, sin extensión pasiva del brazo más allá de la línea media axilar, sin articulaciones del codo, con arqueamiento del radio, cúbito corto y/o desviación cubital/radial de las manos a la altura de las muñecas."},"it":{"name":"Agenesia/ipoplasia isolata dell'omero","synonyms":["Assenza congenita isolata dell'omero","Deficit congenito isolato dell'omero","Ipoplasia congenita isolata dell'omero","Meromelia intercalare isolata dell'omero"],"definition":"L'agenesia/ipoplasia dell'omero è un difetto raro non sindromico da riduzione degli arti, caratterizzato dalla presenza, monolaterale o bilaterale, di un accorciamento del braccio, da agenesia o iposviluppo dell'omero, spesso associato a malformazioni dell'ulna e/o del radio. I pazienti possono presentare un avambraccio direttamente attaccato alla spalla, assenza dell'articolazione della spalla, incapacità di estendere passivamente il braccio oltre la linea ascellare mediana, assenza dell'articolazione del gomito, incurvamento del radio, accorciamento dell'ulna e/o deviazione ulnare/radiale della mano all'altezza del polso."},"nl":{"name":"Geïsoleerde agenesie/hypoplasie van humerus","synonyms":["Geïsoleerde congenitale afwezigheid van humerus","Geïsoleerde congenitale humerale deficiëntie","Geïsoleerde congenitale hypoplasie van humerus","Geïsoleerde humerale intercalaire meromelie"],"definition":"Humerale agenesie/hypoplasie is een zeldzaam, niet-syndromaal ledemaatreductiedefect dat gekarakteriseerd wordt door de unilaterale of bilaterale aanwezigheid van een korte arm met volledig afwezige of onderontwikkelde humerus (opperarmbeen), frequent geassocieerd met malformaties van de ulna (ellepijp) en/of de radius (spaakbeen). Patiënten vertonen mogelijk een voorarm die rechtstreeks is aangehecht aan de schouder, geen articulatie ter hoogte van het schoudergewricht, onvermogen tot passieve extensie van de arm voorbij de mid-axillaire lijn, geen ellebooggewrichten, gebogen radius, een korte ulna en/of ulnaire/radiale afwijking van de hand ter hoogte van de pols."},"pt":{"name":"Agenesia/hipoplasia do úmero isolada","synonyms":["Deficiência congénita do úmero isolada","Hipoplasia congénita do úmero isolada","Meromelia intercalar do úmero isolada"]},"pl":{"name":"Izolowana agenezja/hipoplazja kości ramiennej","synonyms":["Isolated congenital absence of humerus","Isolated congenital humeral deficiency","Isolated congenital hypoplasia of humerus","Isolated humeral intercalary meromelia"]},"cs":{"name":"Ageneze/hypoplázie humeru","synonyms":["Humerální interkalární meromelie"]},"uk":{"name":"Ізольована агенезія/гіпоплазія плечової кістки","synonyms":["Ізольована вроджена відсутність плечової кістки","Ізольований вроджений дефект плечового суглоба","Ізольована вроджена гіпоплазія плечової кістки","Ізольована плечова інтеркалярна меромелія"],"definition":"Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist."},"zh":{"name":"肱骨发育不全/发育不良","synonyms":["先天性肱骨发育不良"],"definition":"肱骨发育不全/发育不良是一种罕见的非综合征性肢体复位缺陷，其特征是单侧或双侧短臂，肱骨缺如或发育不全，常伴有尺骨和/或桡骨畸形。患者可能表现为前臂直接附着于肩部，肩关节处无关节，手臂无法超出腋中线的被动伸展，无肘关节，桡骨弯曲，手腕向桡/尺侧偏斜。"},"tr":{"name":"Humerus agenezisi / hipoplazi","synonyms":["Humerusun doğumsal yokluğu","Humeral interkalar meromeli","Humerusun doğumsal hipoplazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q71.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LB99.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1431381856"},{"source":"MONDO","code":"0017440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925021","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295061,"name":"OBSOLETE: Humeral agenesis/hypoplasia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295063,"name":"OBSOLETE: Humeral agenesis/hypoplasia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}