{"orpha":141258,"name":"Tessier number 4 facial cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141258/","orphanet_url":"https://www.orpha.net/en/disease/detail/141258","names":{"fr":{"name":"Fente faciale 4 de Tessier","definition":"Fente faciale oblique rare caractérisée par un défaut oculofacial unilatéral ou bilatéral partant de la lèvre supérieure, en position latérale par rapport à l'arc de Cupidon, longeant l'aile du nez et se terminant au niveau de la paupière inférieure, en position latérale par rapport au point lacrymal inférieur. L'atteinte des os du visage commence entre les incisives latérales et les canines, passe par les sinus maxillaires, et se termine au niveau du bord infra-orbitaire. L'atteinte oculaire, variable, peut entraîner une microphtalmie, voire une anophtalmie."},"de":{"name":"Gesichtsspalte, Tessier 4","definition":"Eine schräge Gesichtsspalte, die durch einen angeborenen ein- oder beidseitigen okulo-fazialen Defekt gekennzeichnet ist, der an der Oberlippe seitlich des Amorbogens beginnt und dann seitlich des Nasenflügels bis zum Unterlid seitlich des Punctum inferior verläuft. Die Beteiligung des Gesichtsskeletts beginnt zwischen den seitlichen Schneidezähnen und dem Eckzahn, schließt die Kieferhöhle ein und endet am infraorbitalen Rand. Eine variable Beteiligung des Auges kann zu einem Mikro- oder sogar Anophthalmus führen."},"es":{"name":"Hendidura facial número 4 de Tessier","definition":"Es una hendidura facial oblicua poco frecuente caracterizada por un defecto óculo-facial uni- o bilateral congénito que comienza en el labio superior lateral al arco de Cupido extendiéndose hacia el lateral del ala nasal y hasta el párpado inferior, lateral al punctum inferior. La afectación del esqueleto facial comienza entre los incisivos laterales y los caninos, afectando al seno maxilar y terminando en el borde infraorbitario. Los distintos grados de afectación ocular pueden provocar micro- o incluso anoftalmia."},"it":{"name":"Schisi facciale di Tessier numero 4","definition":"Si tratta di una schisi facciale obliqua rara, caratterizzata da un difetto oculo-facciale congenito mono- o bi-laterale, che origina dal labbro superiore, vicino all'arco di Cupido, si sviluppa lateralmente all'ala del naso, e raggiunge la palpebra inferiore, lateralmente rispetto al punto lacrimale inferiore. L'interessamento delle ossa facciali inizia tra gli incisivi laterali e i canini, coinvolge il seno mascellare, e termina nel contorno infraorbitale. Il coinvolgimento variabile dell'occhio può esitare nel microftalmo o nel macroftalmo."},"nl":{"name":"Aangezichtsspleet Tessier nummer 4","definition":"Een zeldzame oblique aangezichtsspleet, gekarakteriseerd door een congenitaal, unilateraal of bilateraal oculo-faciaal defect dat begint bij de bovenlip lateraal aan de cupidoboog en dan lateraal aan de neusvleugel loopt tot het onderste ooglid, lateraal van het onderste traanpunt. Betrokkenheid van faciaal skelet begint tussen de laterale snijtanden en hoektanden, met betrokkenheid van kaaksinus, en eindigt bij de infraorbitale rand. Variabele betrokkenheid van oog kan leiden tot micro- of zelfs anoftalmie."},"pt":{"name":"Fenda facial número 4 de Tessier"},"pl":{"name":"Rozszczep twarzy numer 4 wg Tessiera"},"cs":{"name":"Rozštěp obličeje číslo 4 dle Tessiera"},"uk":{"name":"Розщілина обличчя Тессьє №4","definition":"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus."},"zh":{"name":"Tessier 4型面裂","definition":"一种罕见的面斜裂，其特征是先天性单侧或双侧眼面部缺损，起始于上唇唇弓外侧，然后向鼻翼外侧延伸，直至下眼睑下泪点外侧。面部骨骼受累始于侧切牙和犬齿之间，累及上颌窦，止于眶下缘。眼睛受累程度不同程度可能导致小眼或无眼畸形。"},"tr":{"name":"Tessier 4 numaralı yüz yarığı"}},"xrefs":[{"source":"OMIM","code":"600251","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1796306367"},{"source":"MONDO","code":"0010850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4703420","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":414726,"name":"Genetic facial cleft","classifications":[156]},{"orpha":141253,"name":"Oblique facial cleft","classifications":[147,209]}],"children":[],"genes":[{"symbol":"SPECC1L","name":"sperm antigen with calponin homology and coiled-coil domains 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21703590[PMID]","hgnc":"29022","ensembl":"ENSG00000100014","omim":"614140","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3398011[PMID]_21703590[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3398011[PMID]_21703590[PMID]"}],"phenotypes":null}