{"orpha":1787,"name":"Acrofacial dysostosis, Palagonia type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1787/","orphanet_url":"https://www.orpha.net/en/disease/detail/1787","names":{"fr":{"name":"Dysostose acrofaciale type Palagonia","definition":"Dysostose acrofaciale rare caractérisée par une intelligence normale, une petite taille et une dysostose acrofaciale légère (hypoplasie malaire, micrognathie et syndactylie des doigts avec raccourcissement des quatrièmes métacarpiens) associée à une oligodontie, un palais normal ou ogival, une aplasia cutis verticis avec pili torti, une légère syndactylie cutanée des 2 <sup>es</sup> à 5 <sup>es</sup> doigts, et une fente labiale unilatérale. Les caractéristiques sont similaires à celles observées dans le syndrome de Zlotogora-Ogur, bien que ce dernier ne présente aucun signe de dysostose acrofaciale. Aucun cas n'a été rapporté dans la littérature depuis 1997."},"de":{"name":"Dysostose, akrofaziale, Palagonien-Typ","definition":"Die Akrofazialen Dysostosen (AFD) sind eine heterogene Gruppe von Erkrankungen mit gestörter Entwicklung der Gliedmaßen, des Unterkiefers und des Gesichtes. Dieser sehr seltene AFD-Typ hat nur schwach ausgeprägte Symptome: Kleinwuchs, leichte Akrofaziale Dysostose (Wangenknochen-Hyoplasie, Mikrogenie, Schwimmhäute der Finger mit Verkürzung des 4. Metacarpale), Oligodontie, normalem oder hohem Gaumenbogen, leichte Wirbelanomalien, Defekte der Kopfhaut oder der Haare (Aplasia cutis congenita, Pili torti), Lippenspalte. Die Intelligenz ist normal. Die Merkmale ähneln denen des Zlotogora-Ogur-Syndroms, obwohl letzteres keine Anzeichen einer akrofazialen Dysostose aufweist. Seit 1997 sind keine weiteren Berichte in der Literatur erschienen."},"es":{"name":"Disostosis acrofacial tipo Palagonia","definition":"Es una forma muy poco frecuente de disostosis acrofacial, descrita en cuatro miembros de una misma familia de la aldea siciliana de Palagonia, caracterizada por inteligencia normal, talla baja y leve disostosis acrofacial (hipoplasia malar, micrognatia, y membranas interdigitales con acortamiento de los cuartos metacarpianos) junto con oligodoncia, paladar normal u ojival, <i>aplasia cutis verticis</i> con <i>pili torti</i>, discreta sindactilia cutánea del 2º a 5º dedos, membranas interdigitales con acortamiento de los cuartos metacarpianos y hendidura labial unilateral. Los hallazgos son similares a los observados en el síndrome de Zlotogora-Ogur, aunque este último no muestra signos de disostosis acrofacial. No se han publicado nuevos casos en la literatura desde 1997."},"it":{"name":"Disostosi acrofacciale, tipo Palagonia","definition":"La disostosi acrofacciale, tipo Palagonia, è una forma molto rara di disostosi acrofacciale, osservata in quattro membri di una famiglia siciliana residente nel comune di Palagonia; è caratterizzata da intelligenza normale, bassa statura e lieve disostosi acrofacciale (ipoplasia malare, micrognatia e pliche interdigitali, con accorciamento del quarto metacarpo) associata a oligodontia, palato normale o ogivale, aplasia cutis verticis con pili torti, lieve sindattilia cutanea del secondo e quinto dito, eccesso di cute tra le dita, accorciamento del quarto metacarpo e labioschisi monolaterale. I segni clinici ricordano la sindrome di Zlotogora-Ogur, che però non presenta disostosi acrofacciale. Gli ultimi casi descritti risalgono al 1997."},"nl":{"name":"Acrofaciale dysostose, Palagonia-type","definition":"Een zeldzame acrofaciale dysostose, gekenmerkt door normale intelligentie, kleine gestalte en milde acrofaciale dysostose (hypoplasie van jukbeenderen, micrognathie, en samengegroeide vingers met verkorte vierde metacarpalen), geassocieerd met oligodontie, normaal of hoog gebogen verhemelte, aplasia cutis verticis met pili torti, milde cutane syndactylie van vingers 2-5, en unilateraal gespleten lip. De kenmerken zijn gelijkaardig aan die waargenomen bij syndroom van Zlotogora-Ogur, hoewel dit laatste geen teken van acrofaciale dysostose vertoont. Sinds 1997 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Disostose acro-facial, tipo Palagonia","definition":"Disostose acrofacial rara caracterizada por inteligência normal, baixa estatura e disostose acrofacial ligeira (hipoplasia malar, micrognatia e dedos alados com encurtamento do quarto metacarpo) associada a oligodontia, palato normal ou arqueado alto, aplasia cutis verticis com pili torti, sindactilia cutânea ligeira dos dedos 2-5 e lábio leporino unilateral. As características são semelhantes às observadas na síndrome Zlotogora-Ogur, embora esta última não apresente sinais de disostose acrofacial. Não houve mais relatos na literatura desde 1997."},"pl":{"name":"Dyzostoza kończynowo-twarzowa typu Palagonia"},"cs":{"name":"Akrofaciální dysostóza, palagonský typ"},"uk":{"name":"Акрофаціальний дизостоз, тип Палагонія","definition":"A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997."},"zh":{"name":"面骨发育不全，Palagonia型"},"tr":{"name":"Akrofasiyal dizostoz, Palagonia tipi"}},"xrefs":[{"source":"OMIM","code":"601829","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"656294814"},{"source":"MONDO","code":"0011154","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866168","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"499","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":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"9098488[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9098488[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-01","source":null,"terms":[{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Occasional (29-5%)","criteria":null}]}}