{"orpha":949,"name":"Acrocraniofacial dysostosis","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Kaplan-Plauchu-Fitch syndrome"],"definition":"A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-949/","orphanet_url":"https://www.orpha.net/en/disease/detail/949","names":{"fr":{"name":"Dysostose acro-cranio-faciale","synonyms":["Syndrome de Kaplan-Plauchu-Fitch"],"definition":"La dysostose acro-cranio faciale est une forme très rare de dysostose acrofaciale, rapportée chez deux soeurs à ce jour. Elle se caractérise par une petite taille, une acrocéphalie, un hypertélorisme oculaire, un ptosis palpébral, une proptose oculaire, des fentes palpébrales obliques en bas et en dehors, un pont nasal haut, des narines antéversées, un philtrum court, une fente palatine, une micrognathie, des oreilles externes anormales, des sinus pré-auriculaires, une surdité mixte, des doigts bulbeux, un metatarsus varus, un pectus excavatum et diverses anomalies radiologiques. Ce syndrome partage des manifestations cliniques avec le syndrome oto-palato-digital types 1 et 2. Il n'y a pas eu de description ultérieure dans la littérature depuis 1988."},"de":{"name":"Dysostose, akro-kranio-faziale","synonyms":["Kaplan-Plauchu-Fitch-Syndrom"]},"es":{"name":"Disostosis acrocraneofacial","synonyms":["Síndrome de Kaplan-Plauchu-Fitch"],"definition":"Es una forma muy poco frecuente de disostosis acrofacial caracterizada por talla baja, acrocefalia, hipertelorismo ocular, ptosis palpebral, proptosis ocular, fisuras palpebrales inclinadas hacia abajo, puente nasal elevado, narinas antevertidas, surco nasolabial corto, fisura del paladar, micrognatia, orejas malformadas con fositas preauriculares, pérdida auditiva mixta, dedos bulbosos, metatarso varo, <i>pectus excavatum</i> y diversas anomalías radiológicas. Las características de este síndrome se solapan con los síndromes otopalatodigitales tipos 1 y 2. Desde 1988 no se han publicado nuevos casos en la literatura."},"it":{"name":"Disostosi acro-cranio-facciale","synonyms":["Sindrome di Kaplan-Plauchu-Fitch"],"definition":"La disostosi acro-cranio-facciale è una forma molto rara di disostosi acro-facciale, finora descritta in due sorelle; è caratterizzata da bassa statura, acrocefalia, ipertelorismo oculare, ptosi palpebrale, proptosi oculare, rime palpebrali oblique verso il basso, radice del naso prominente, narici anteverse, filtro corto, palatoschisi, micrognatia, anomalie dell'orecchio esterno, fossette preauricolari, ipoacusia mista, dita tozze, metatarso addotto, pectus excavatum e altre anomalie radiologiche. È stata osservata una sovrapposizione dei segni clinici di questa sindrome con la sindrome oto-palato-digitale tipo 1 e 2. Gli ultimi casi descritti risalgono al 1988."},"nl":{"name":"Acrocraniofaciale dysostose","synonyms":["Syndroom van Kaplan-Plauchu-Fitch"],"definition":"Een zeer zeldzame vorm van acrofaciale dysostose, gekarakteriseerd door kleine gestalte, acrocefalie, oculair hypertelorisme, ptose van oogleden, oculaire proptosis, neerwaarts hellende ooglidspleten, hoge neusbrug, anteversie van de neusgaten, kort filtrum, gespleten verhemelte, micrognathie, abnormale uitwendige oren, pre-auriculaire fistels, gemengd gehoorverlies, trommelstokvingers, metatarsus varus, pectus excavatum (trechterborst), en verschillende radiologische afwijkingen. Er werd gerapporteerd dat kenmerken van dit syndroom overlappen met otopalatodigitaal syndroom type 1 en 2. Sinds 1988 verschenen geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Disostose acro-cranio-facial","synonyms":["Síndrome Kaplan-Plauchu-Fitch"]},"pl":{"name":"Dyzostoza kończynowo-czaszkowo-twarzowa","synonyms":["Zespół Kaplana, plauchu i Fitcha"]},"cs":{"name":"Akrokraniofaciální dysostóza","synonyms":["Kaplanův-Plauchův-Fitchův syndrom","Kaplan-Plauchu-Fitchův syndrom"]},"uk":{"name":"Акрокраніофаціальний дизостоз","synonyms":["Синдром Каплана-Плаучу-Фітча"],"definition":"A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988."},"zh":{"name":"肢端颅面骨发育不良","synonyms":["Kaplan-Plauchu-Fitch综合征"]},"tr":{"name":"Akrokraniofasiyal disostoz","synonyms":["Kaplan-Plauchu-Fitch sendromu"]}},"xrefs":[{"source":"OMIM","code":"201050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008712","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860145","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3075","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3344780[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3344780[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010097","label":"Partial duplication of the distal phalanx of the hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011453","label":"Abnormality of the incus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011454","label":"Abnormality of the malleus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null}]}}