{"orpha":363705,"name":"Craniofaciofrontodigital syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cantu craniofaciofrontodigital syndrome"],"definition":"Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363705/","orphanet_url":"https://www.orpha.net/en/disease/detail/363705","names":{"fr":{"name":"Syndrome cranio-facio-fronto-digital","synonyms":["Syndrome cranio-facio-fronto-digital de Cantu"],"definition":"Le syndrome cranio-facio-fronto-digital est un syndrome d'anomalies congénitales multiples rare caractérisé par un léger déficit intellectuel, une petite taille, des anomalies cardiaques, une légère dysmorphie faciale (macrocéphalie, front proéminent, hypertélorisme, exophtalmie), un cutis laxa, une hyperlaxité articulaire, des paumes et des plantes de pied ridées, ainsi que des anomalies squelettiques (selle turcique, larges côtes, petits corps vertébraux)."},"de":{"name":"Kranio-fazio-fronto-digitales Syndrom","synonyms":["Kranio-fazio-fronto-digitales Syndrom Cantu"],"definition":"Das Kranio-fazio-fronto-digitale Syndrom ist ein seltenes Syndrom mit multiplen, angeborenen Fehlbildungen charakterisiert durch eine milde Intelligenzminderung, Kleinwuchs, Herzanomalien, milde Dysmoprhien (Makrozephalie, prominente Stirn, Hypertelorismus, Exophtalmus), Cutis laxa, Überbewglichkeit der Gelenke, palmare und plantare Fältelung und Skelettanomalien (Sella trucica, geweitete Rippen und kleine Wirbelkörper)."},"es":{"name":"Síndrome craneofaciofrontodigital","synonyms":["Síndrome craneofaciofrontodigital de Cantu","Síndrome cráneo-facio-fronto digital de Cantu"],"definition":"El síndrome craneofaciofrontodigital es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por discapacidad intelectual leve, talla baja, anomalías cardíacas, rasgos dismórficos leves (macrocefalia, frente prominente, hipertelorismo, exoftalmos), cutis laxo, hiperlaxitud de las articulaciones, palmas de las manos y plantas de los pies arrugadas y anomalías esqueléticas (silla turca, costillas anchas y cuerpos vertebrales pequeños)."},"it":{"name":"Sindrome cranio-facio-fronto-digitale","synonyms":["Sindrome cranio-facio-fronto-digitale di Cantu","Sindrome craniofaciofrontodigitale di Cantu"],"definition":"La sindrome cranio-facio-fronto-digitale è una malattia rara da anomalie congenite multiple, caratterizzata da disabilità intellettiva lieve, bassa statura, cardiopatie, dismorfismi facciali sfumati (macrocefalia, fronte prominente, ipertelorismo, esoftalmo), cutis laxa, iperlassità articolare, palmo delle mani e pianta dei piedi rugose e anomalie scheletriche (sella turcica, costole larghe e corpi vertebrali di dimensioni ridotte)."},"nl":{"name":"Craniofaciofrontodigitaal syndroom","synonyms":["Craniofaciofrontodigitaal syndroom van Cantu"],"definition":"Cranio-facio-fronto-digitaal syndroom is een zeldzaam syndroom met meervoudige congenitale anomalieën dat wordt gekarakteriseerd door milde intellectuele beperking, een kleine gestalte, hartafwijkingen, milde dysmorfe kenmerken (macrocefalie, uitgesproken voorhoofd, hypertelorisme, exoftalmie), cutis laxa, hyperlaxiteit van gewrichten, gerimpelde handpalmen en voetzolen, en skeletale anomalieën (sella turcica, brede ribben en kleine wervels)."},"pt":{"name":"Síndrome craniofaciofrontodigital"},"pl":{"name":"Zespół czaszkowo-twarzowo-czołowo-palcowy","synonyms":["Zespół czaszkowo-twarzowo-czołowo-palcowy Cantu"]},"cs":{"name":"Kraniofaciofrontodigitální syndrom","synonyms":["Cantuův kraniofaciofrontodigitální syndrom"]},"uk":{"name":"Краніофаціофронтодігітальний синдром","synonyms":["Краніофаціально-фронтодигітальний синдром Канту"],"definition":"Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)."},"zh":{"name":"颅-面-额-肢端综合征","synonyms":["Cantu颅-面-额-肢端综合征"],"definition":"颅面部额手指综合征是一种罕见的多发性先天性畸形综合征，以轻度智力障碍、身材矮小、心脏异常、轻度畸形(巨头畸形、额头突出、眼距过宽、眼球突出)、皮肤松弛、关节过度松弛、手掌和足底皱纹以及骨骼异常(蝶鞍、肋骨宽大和椎体小)为特征。"},"tr":{"name":"Kraniyofasiyofrontodijital sendromu","synonyms":["Cantu kraniyofasiyofrontodijital sendromu"]}},"xrefs":[{"source":"OMIM","code":"114620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007259","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676032","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7151302[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7151302[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-22","source":"31828977[PMID]_71513002[PMID]_34453476[PMID]","terms":[{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004540","label":"Congenital, generalized hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007517","label":"Palmoplantar cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001015","label":"Prominent superficial veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005314","label":"Anomalous branches of internal carotid artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006094","label":"Finger joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012568","label":"Lower eyelid edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011726","label":"Persistent fetal circulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002708","label":"Prominent median palatal raphe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004532","label":"Sacral hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}