{"orpha":466695,"name":"Supratip dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466695/","orphanet_url":"https://www.orpha.net/en/disease/detail/466695","names":{"fr":{"name":"Dysplasie sus-apicale médiane du nez","definition":"Anomalie rare, congénitale et non syndromique du nez et du cavum caractérisée par une hypertrophie bulbeuse des tissus mous située dans le tiers médiodistal du dorsum nasal, associée à une déformation et à un léger décalage latéral et postérieur des ailes du nez et à une lésion cutanée atrophique cicatricielle située au niveau de la pointe nasale. La fonction respiratoire n'est pas affectée."},"de":{"name":"Supratip-Dysplasie"},"es":{"name":"Displasia supra-apical","definition":"Es una malformación de la nariz y la cavidad nasal, congénita, no sindrómica y poco frecuente, caracterizada por la presencia de hipertrofia bulbosa del tejido blando, localizada en el tercio medio a distal del dorso nasal, junto a malformación de las alas nasales, ligeramente desplazadas lateral y caudalmente, y una lesión cutánea atrófica, similar a una cicatriz, ubicada en la punta nasal. La función respiratoria no está afectada."},"it":{"name":"Displasia sopra-apicale del naso","definition":"La displasia sopra-apicale del naso è una malformazione congenita rara non sindromica del naso e delle cavità nasali, caratterizzata da un'ipertrofia globosa del tessuto molle, localizzata nel terzo medio-distale del dorso del naso, associata ad ali del naso deformate e dislocate in posizione lievemente laterale e caudale, e da una lesione atrofica sulla cute, simile ad una cicatrice, localizzata sulla punta del naso. La funzione respiratoria non è compromessa."},"nl":{"name":"Dysplasie van supratip","definition":"Dysplasie van de supratip is een zeldzame, congenitale, niet-syndromale malformatie van de neus en de neusholte die wordt gekarakteriseerd door de aanwezigheid van een bolvormige hypertrofie van weke delen gesitueerd in het middelste tot distale derde deel van de neusrug, in associatie met misvormde, ietwat lateraal en caudaal geplaatste neusvleugels en een littekenachtig, atrofisch huidletsel op de neuspunt. De respiratoire functie is niet aangetast."},"pt":{"name":"Displasia supra-apical mediana do nariz"},"pl":{"name":"Dysplazja okolicy nad czubkiem nosa","definition":"*Dysplazja okolicy nad czubkiem nosa to rzadka, wrodzona, izolowana wada rozwojowa nosa i jamy nosowej, która charakteryzuje się obecnością bulwiastego przerostu tkanek miękkich zlokalizowanego w środkowo-dystalnej jednej trzeciej grzbietu nosa, której towarzyszy deformacja oraz przemieszczenie na bok i ku tyłowi skrzydełek nosa oraz zanikowe bliznopodobne zmiany skórne na czubku nosa. Nie powoduje zaburzeń oddychania."},"cs":{"name":"Dysplázie nad špičkou nosu"},"uk":{"name":"Супратіпова дисплазія","definition":"Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected."},"zh":{"name":"鼻尖发育异常","definition":"鼻尖发育不良是一种罕见的、先天性的、非综合征性的鼻腔畸形，其特征是位于鼻背中部至中部三分之一处的球状软组织肥大，与畸形的、略向外侧和尾侧的鼻甲，以及位于鼻尖的瘢痕样萎缩性皮肤病变相关。呼吸功能不受影响。"},"tr":{"name":"Supratip displazisi"}},"xrefs":[{"source":"ICD-10","code":"J34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018757","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681127","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26947355[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26947355[PMID]"}],"phenotypes":null}