{"orpha":1867,"name":"Hereditary bullous dystrophy, macular type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1867/","orphanet_url":"https://www.orpha.net/en/disease/detail/1867","names":{"fr":{"name":"Dystrophie bulleuse héréditaire type maculaire","definition":"Déficience intellectuelle syndromique rare liée à l'X caractérisée par une déficience intellectuelle, une microcéphalie, une petite taille et des anomalies ectodermiques (alopécie, formation spontanée de vésicules cutanées sans signe de traumatismes, macules hyper- ou hypopigmentées, acrocyanose et dystrophie des ongles) chez les patients de sexe masculin. Les autres caractéristiques rapportées sont des doigts courts et effilés, des anomalies oculaires (telles que des opacités cornéennes et une cataracte) et un hypogénitalisme. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Dystrophie, bullöse, hereditäre, makulärer Typ","definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, gekennzeichnet durch intellektuelle Defizite, Mikrozephalie, Kleinwuchs und ektodermale Anomalien (einschließlich Alopezie, spontane Bildung von Bullae ohne offensichtliches Trauma, hyper- oder hypopigmentierte Makulae, Akrozyanose und dystrophische Nägel) bei männlichen Betroffenen. Als weitere Merkmale werden kurze, spitz zulaufende Finger, Augenanomalien (wie Hornhauttrübungen und Katarakt) und Hypogenitalismus berichtet. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Distrofia ampollosa hereditaria tipo macular","synonyms":["Distrofia bullosa hereditaria tipo macular"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por discapacidad intelectual, microcefalia, talla baja y anomalías ectodérmicas (incluyendo alopecia, formación espontánea de ampollas sin traumatismo previo, máculas hiper- o hipopigmentadas, acrocianosis y distrofia ungueal) en varones. Otras características adicionales descritas son dedos de las manos cortos y afilados distalmente, anomalías oculares (como opacidades corneales y cataratas) e hipogonadismo. No se ha descrito más casos en la literatura desde 1995."},"it":{"name":"Distrofia bollosa ereditaria, tipo maculare","definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da deficit intellettivo, microcefalia, bassa statura e anomalie ectodermiche (alopecia, bolle che insorgono spontaneamente in assenza di traumi, macchie iper- o ipopigmentate, acrocianosi e distrofia ungueale) in pazienti di sesso maschile. I pazienti possono presentare anche dita corte e affusolate, anomalie oculari (opacità corneali e cataratta) e ipogenitalismo. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Erfelijke bulleuze dystrofie, maculair type","definition":"Een zeldzame, X-gebonden syndromale intellectuele achterstand, gekenmerkt door intellectuele achterstand, microcefalie, kleine gestalte, en ectodermale anomalieën (waaronder alopecie, spontane vorming van bullae zonder evident trauma, gehyper- of gehypopigmenteerde maculae, acrocyanose, en dystrofische nagels)bij mannelijke patiënten. Bijkomend gerapporteerde kenmerken zijn korte, taps toelopende vingers, ooganomalieën (zoals hoornvliestroebeling en cataract), en hypogenitalisme. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Epidermólise bolhosa hereditária, tipo macular"},"pl":{"name":"Dystrofia pchęrzowa typu plamkowego"},"cs":{"name":"Bulózní dystrofie, makulární typ"},"uk":{"name":"Спадкова бульозная дистрофія, макулярний тип","definition":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995."},"zh":{"name":"遗传性大疱性营养不良，斑点型"},"tr":{"name":"Kalıtsal büllöz distrofi, maküler tip"}},"xrefs":[{"source":"OMIM","code":"302000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795974","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1038","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7943046[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7943046[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-29","source":"7943046[PMID]_7726164[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011361","label":"Congenital abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500262","label":"Atrichia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null}]}}