{"orpha":228396,"name":"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ophtalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228396/","orphanet_url":"https://www.orpha.net/en/disease/detail/228396","names":{"fr":{"name":"Syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal","definition":"Maladie ophtalmique rare caractérisée par un ptosis bilatéral, une limitation des mouvements oculaires vers le haut, une absence du point lacrymal et une dysmorphie faciale à type de front étroit et carré, de sourcils épais et arqués, d'absence bilatérale des cils sur la partie médiane de la paupière inférieure, de télécanthus, de narines légèrement antéversées, de philtrum relativement long et d'hypoplasie du maxillaire supérieur. Chez certains patients, des oreilles dysplasiques d'implantation basse peuvent s'observer."},"de":{"name":"Ptosis mit Bewegungseinschränkung des Auges und Fehlen des Tränenpünktchens","definition":"Eine seltene Augenerkrankung, die durch eine beidseitige Ptosis, eingeschränkte Aufwärtsbewegung beider Augen, das Fehlen des Punctum lacrimalis und Gesichtsdysmorphien gekennzeichnet ist. Die fazialen Merkmale umfassen eine enge quadratische Stirn, beidseitig dicke und gewölbte Augenbrauen, fehlende mediale Unterlidwimpern, Telekanthus, leicht antevertierte Nasenlöcher, ein relativ langes Philtrum und eine Hypoplasie des Oberkiefers. Einige Patienten können zudem tief angesetzte und dysplastische Ohren haben."},"es":{"name":"Síndrome de ptosis-movimiento ocular limitado hacia arriba-ausencia del punto lagrimal","definition":"Es un trastorno oftalmológico poco frecuente caracterizado por ptosis bilateral, limitación del movimiento ocular hacia arriba, ausencia del punto lagrimal y dismorfia facial que incluye frente estrecha y cuadrada, cejas gruesas y arqueadas bilaterales, ausencia bilateral de pestañas mediales inferiores, telecánto, discreta anteversión de las fosas nasales, filtrum largo e hipoplasia maxilar. Algunos pacientes pueden presentar orejas displásicas de implantación baja."},"it":{"name":"Ptosi - limitazione dei movimenti oculari verso l'alto - assenza dei punti lacrimali"},"nl":{"name":"Ptosis - beperkte opwaartse oogbeweging - agenesie van punctum lacrimale-syndroom","definition":"Een zeldzame oftalmische aandoening, gekenmerkt door bilaterale ptosis, beperking van opwaartse oogbeweging, afwezigheid van punctum lacrimale (traanpunt), en faciale dysmorfie met onder meer smal en vierkant voorhoofd, bilateraal dikke en gebogen wenkbrauwen, bilaterale afwezigheid van onderste middelste oogwimpers, telecanthus, milde anteversie van de neusgaten, relatief lang filtrum, en maxillaire hypoplasie. Sommige patiënten kunnen laagstaande en dysplastische oren hebben."},"pt":{"name":"Síndrome de ptose-limitação dos movimentos oculares superiores-ausência do ponto lacrimal","definition":"Doença oftálmológica rara caracterizada por ptose bilateral, limitação do movimento ocular superior, ausência do ponto lacrimal e dismorfismo facial, incluindo fronte estreita e quadrada, sobrancelhas grossas e arqueadas bilaterais, ausência de cílios mediais inferiores bilaterais, telechantus, narinas levemente antevertidas, um filtro relativamente longo e hipoplasia maxilar. Alguns doentes podem apresentar pavilhões auriculares de inserção baixa e displásicas."},"pl":{"name":"Ptoza - ograniczenie górnego ruchu gałek ocznych - brak otworów łzowych","definition":"Rzadkie zaburzenie okulistyczne charakteryzujące się obustronną ptozą, ograniczeniem ruchu gałek ocznych ku górze, brakiem otworów łzowych i dysmorfią twarzy, w tym wąskim i kwadratowym czołem, obustronnymi grubymi i łukowatymi brwiami, obustronnym brakiem dolnych rzęs przyśrodkowo, telecantusem, łagodnym odwróceniem nozdrzy, stosunkowo długą rynienką podnosową oraz hipoplazją szczęki. Niektórzy pacjenci mogą mieć nisko osadzone i dysplastyczne uszy."},"cs":{"name":"Syndrom zahrnující ptózu, horní omezení očních pohybů a chybění slzných bodů"},"uk":{"name":"Синдром птозу-обмеження рухів верхньої повіки-відсутності слізного отвору","definition":"A rare opthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telechantus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears."},"zh":{"name":"上睑下垂-上眼运动受限-泪点缺乏综合征","definition":"上睑下垂-眼球上运动受限-泪点缺失最近报道与下睑泪点缺失，双侧上睑下垂，双眼抬高不足，轻度面部畸形相关。"},"tr":{"name":"Pitoz-üst oküler hareket kısıtlılığı-lakrimal punktum sendromunun yokluğu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":519274,"name":"Syndromic lacrimal system disorder","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19941420[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19941420[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001092","label":"Absent lacrimal punctum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null}]}}