{"orpha":3224,"name":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome","Pfeiffer-Kapferer syndrome"],"definition":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3224/","orphanet_url":"https://www.orpha.net/en/disease/detail/3224","names":{"fr":{"name":"Syndrome de surdité-anomalies génitales-synostoses métacarpiennes et métatarsiennes","synonyms":["Syndrome de Pfeiffer-Kapferer"],"definition":"Le syndrome de surdité-anomalies génitales-synostoses métacarpiennes et métatarsiennes est caractérisé par une surdité neuro-sensorielle, une synostose bilatérale des 4èmes et 5èmes métacarpes et métatarses, des anomalies génitales (hypospadias chez les garçons), un retard psychomoteur et des dermatoglyphes anormaux. A ce jour, il a été décrit chez deux patients non apparentés. Une dysmorphie faciale a été observée chez les deux patients (font proéminent, anomalies des oreilles, asymétrie faciale et bouche constamment ouverte)."},"de":{"name":"Schwerhörigkeit-Genitalanomalien-Metakarpal- und Metatarsalsynostose-Syndrom","synonyms":["Pfeiffer-Kapferer-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch sensorisch-neurale Schwerhörigkeit, beidseitige Synostose der Metacarpalia und Metatarsalia IV und V, Hypospadie im männlichen Geschlecht, psychomotorische Verzögerung und abnorme Dermatoglyphen."},"es":{"name":"Síndrome de sordera-anomalías genitales-sinostosis de metacarpianos y metatarsianos","synonyms":["Síndrome de Pfeiffer-Kapferer","Síndrome de hipoacusia-anomalías genitales-sinostosis de metacarpianos y metatarsianos"],"definition":"Es un síndrome caracterizado por sordera neurosensorial, sinostosis bilateral del 4º y 5º metacarpiano y metatarsiano, anomalías genitales (hipospadias en varones), retraso psicomotor y dermatoglifos anómalos. Hasta la fecha se ha descrito en dos pacientes sin parentesco. Se observó dismorfia facial en ambos pacientes (frente prominente, anomalías de los pabellones auriculares, asimetría facial y boca entreabierta)."},"it":{"name":"Sordità - ipospadia - sinostosi dei metacarpi e metatarsi","synonyms":["Sindrome di Pfeiffer-Kapferer"]},"nl":{"name":"Doofheid - genitale anomalieën - metacarpale en metatarsale synostose-syndroom","synonyms":["Gehoorverlies - genitale anomalieën - metacarpale en metatarsale synostose-syndroom","Syndroom van Pfeiffer-Kapferer"],"definition":"Doofheid - genitale anomalieën - metacarpale en metatarsale synostose-syndroom wordt gekenmerkt door sensorineurale doofheid, bilaterale synostose van 4de en 5de metacarpalen en metatarsalen, genitale anomalieën (hypospadie bij mannen), psychomotorische achterstand, en abnormale dermatoglyfen. Tot op heden werd het syndroom beschreven bij twee niet-verwante patiënten. Bij beide patiënten werd faciale dysmorfie opgemerkt (prominent voorhoofd, ooranomalieën, asymmetrie van aangezicht, en open mond)."},"pt":{"name":"Síndrome de surdez-anomalias genitais-sinostose metacárpica e metatársica","synonyms":["Síndrome Pfeiffer-Kapferer","Síndrome de perda auditiva-anomalias genitais-sinostose metacárpica e metatársica"]},"pl":{"name":"Głuchota - anomalie narządów płciowych - synostoza kości śródręcza i śródstopia","synonyms":["Zespół Pfeiffera i Kapferera"]},"cs":{"name":"Syndrom zahrnující hluchotu, anomálie genitálu a metakarpální a metatarzální synostózy","synonyms":["Pfeifferův-Kapfererův syndrom","Pfeiffer-Kapfererův syndrom"]},"uk":{"name":"Синдром глухоти-генітальних аномалій-синостозу пясткових та плеснових кісток","synonyms":["Синдром втрати слуху-генітальних аномалій- синостозу пясткових та плеснових кісток","Синдром Пфайфера-Капферера"],"definition":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)."},"zh":{"name":"耳聋-生殖器畸形-掌跖骨骨性融合综合征","synonyms":["Pfeiffer-Kapferer综合征"]},"tr":{"name":"Sağırlık-genital anomaliler-metakarpal ve metatarsal sinostoz sendromu","synonyms":["İşitme kaybı-genital anomaliler-metakarpal ve metatarsal sinostoz sendromu","Pfeiffer-Kapferer sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1415932728"},{"source":"MONDO","code":"0017920","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931654","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"15887301[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15887301[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-16","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null}]}}