{"orpha":1295,"name":"Brachytelephalangy-dysmorphism-Kallmann syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1295/","orphanet_url":"https://www.orpha.net/en/disease/detail/1295","names":{"fr":{"name":"Syndrome de brachytéléphalangie-dysmorphie-syndrome de Kallman","definition":"Anomalie rare du développement caractérisée par une brachytéléphalangie, des caractéristiques craniofaciales distinctes (front carré et proéminent, télécanthus, petit nez, hypoplasie malaire, philtrum lisse et lèvre supérieure fine) et une petite taille par rapport aux autres membres de la famille. Ces caractéristiques peuvent être associées à l'anosmie et à l'hypogonadisme hypogonadotrope (syndrome de Kallman). Aucun nouveau cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Brachytelephalangie mit Dysmorphien und Kallmann-Syndrom","definition":"Eine seltene Entwicklungsanomalie, die durch Brachytelephalangie, ausgeprägte kraniofaziale Merkmale (vorstehende, eckige Stirn, Telekanthus, kleine Nase, Malarhypoplasie, glattes Philtrum und dünne Oberlippe) sowie Kleinwuchs (im Vergleich zu anderen Familienmitgliedern) gekennzeichnet ist. Diese Merkmale können mit Anosmie und hypogonadotropem Hypogonadismus (Kallman-Syndrom) einhergehen. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Braquitelefalangia-dismorfia-síndrome de Kallmann","definition":"Es una anomalía poco frecuente del desarrollo caracterizada por braquitelefalangia, características craneofaciales distintivas (frente cuadrada prominente, telecanto, nariz pequeña, hipoplasia malar, filtrum liso y labio superior delgado) y, en relación con otros miembros de la familia, tall baja. Estas características pueden estar asociadas con anosmia e hipogonadismo hipogonadotrópico (síndrome de Kallman). No ha habido más casos descritos en la literatura desde 1986."},"it":{"name":"Brachitelefalangia - dismorfismi - sindrome di Kallmann"},"nl":{"name":"Brachytelefalangie - dysmorfie - syndroom van Kallmann-syndroom","definition":"Een zeldzame ontwikkelingsanomalie, gekenmerkt door brachytelefalangie, typische craniofaciale kenmerken (prominent vierkant voorhoofd, telecanthus, kleine neus, hypoplasie van jukbeen, glad filtrum en dunne bovenlip) en, in vergelijking met andere familieleden, kleine gestalte. Deze kenmerken kunnen geassocieerd zijn met anosmie en hypogonadotroop hypogonadisme (syndroom van Kallmann). Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Braquitelefalangia-dismorfia-síndrome de Kallman"},"pl":{"name":"Skrócenie paliczków dalszych - dysmorfizm - zespół Kallmanna","definition":"Rzadka anomalia rozwojowa charakteryzująca się brachytelefalangią, odmiennymi cechami twarzoczaszki (ydatne kwadratowe czoło, telecanthus, mały nos, niedorozwój szczęki, gładka rynienka podnosowa i cienka górna warga) oraz, w porównaniu z innymi członkami rodziny, niskim wzrostem. Może towarzyszyć brak węchu i hipogonadyzm hipogonadotropowy (zespół Kallmana). Od 1986 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Brachytelefalangie, dysmorfismus a Kallmannův syndrom"},"uk":{"name":"Синдром брахітелефалангічного дизморфізму-Калльмана","definition":"A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986."},"zh":{"name":"末节指骨短小-外貌畸形-卡尔曼氏综合征"},"tr":{"name":"Brakitelahalanji-dismorphizm-Kallmann sendromu"}},"xrefs":[{"source":"OMIM","code":"113480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007231","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","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]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3728571[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3728571[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","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:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null}]}}