{"orpha":363523,"name":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Shaheen syndrome"],"definition":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363523/","orphanet_url":"https://www.orpha.net/en/disease/detail/363523","names":{"fr":{"name":"Syndrome d'hypohidrose-hypoplasie de l'émail-kératodermie palmoplantaire-déficience intellectuelle","synonyms":["Syndrome de Shaheen"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle sévère et d'importants troubles de la parole et du langage, une hypohydrose (entraînant souvent une hyperthermie) et un aspect normal des glandes sudoripares, une hypoplasie de l'émail dentaire, une hyperkératose palmoplantaire et une fréquence élevée de microcéphalie acquise. Une légère dysmorphie faciale, à type de sourcils larges et évasés sur les côtés, de pointe nasale large et de vermillon épais peut s'observer."},"de":{"name":"Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom","synonyms":["Shaheen-Syndrom"]},"es":{"name":"Síndrome de hipohidrosis-hipoplasia del esmalte-queratodermia palmoplantar-discapacidad intelectual","synonyms":["Síndrome de Shaheen"],"definition":"El síndrome de hipohidrosis - hipoplasia del esmalte - queratodermia palmoplantar - discapacidad intelectual es un trastorno sindrómico de discapacidad intelectual, genético y poco frecuente, caracterizado por discapacidad intelectual grave con alteraciones significativas del habla y del lenguaje, hipohidrosis (que a menudo produce hipertermia), con apariencia normal de las glándulas sudoríparas, hipoplasia del esmalte dental, hiperqueratosis palmoplantar y una alta frecuencia de microcefalia adquirida. También se puede observar dismorfia facial leve, incluyendo ensanchamiento lateral de las cejas, punta nasal ancha y borde del bermellón grueso."},"it":{"name":"Sindrome ipoidrosi-ipoplasia dello smalto-cheratoderma palmoplantare-disabilità intellettiva","synonyms":["Sindrome Shateen"],"definition":"La sindrome che associa l'ipoidrosi, l'ipoplasia dello smalto, il cheratoderma palmoplantare e la disabilità intellettiva è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva grave associata a difetti significativi del linguaggio, ipoidrosi (che spesso esita nell'ipertermia) con ghiandole sudoripare di aspetto normale, ipoplasia dello smalto dei denti, ipercheratosi palmoplantare e, spesso, microcefalia acquisita. I pazienti possono anche presentare alcuni dismorfismi sfumati, comprese le sopracciglia rade nella parte laterale, la punta del naso grossolana e l'ingrossamento della porzione mucosa delle labbra."},"nl":{"name":"Hypohidrose - glazuurhypoplasie - palmoplantaire keratodermie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Shaheen"],"definition":"Hypohidrose - glazuurhypoplasie - palmoplantaire keratodermie - intellectuele achterstand-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ernstige intellectuele achterstand met significante spraak- en taalstoornis, hypohidrose (vaak met hyperthermie tot gevolg) met normaal uitziende zweetklieren, hypoplasie van het tandglazuur, palmoplantaire hyperkeratose en een hoge frequentie van verworven microcefalie. Milde faciale dysmorfie, met onder meer lateraal uitlopen van de wenkbrauwen, brede neuspunt, en dikke vermiljoengrens, wordt mogelijk ook waargenomen."},"pt":{"name":"Síndrome de hipohidrose-hipoplasia do esmalte-queratodermia palmoplantar-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Shaheen"]},"pl":{"name":"Zespół hipohydroza-hipoplazja szkliwa-rogowiec dłoniowo-podeszwowy-niepełnosprawność intelektualna","synonyms":["Shaheen syndrome"]},"cs":{"name":"Syndrom zahrnující hypohidrózu, hypoplázii zubní skloviny, palmoplantární keratoderma a mentální retardaci","synonyms":["Shaheen syndrome"]},"uk":{"name":"Синдром гіпогідрозу-гіпоплазії емалі-долонно-підошовної кератодермії-інтелектуальної недостатності","synonyms":["Синдром Шахіна"],"definition":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed."},"zh":{"name":"多汗-牙釉质发育不良-掌跖角化-智力障碍综合征","synonyms":["Shaheen综合征"],"definition":"少汗症-牙釉质发育不良-掌跖角化病-智力障碍综合征是一种罕见的遗传性综合征智力障碍疾病，其特征为严重的智力障碍伴有明显的言语和语言障碍、伴有汗腺外观正常的无汗症(通常导致体温过高)、牙釉质发育不良、掌跖角化过度和高频率的获得性小头畸形。在本病中也可以观察到轻度的面部畸形，包括眉毛的外侧张开、宽鼻尖和浓密的唇红缘。"},"tr":{"name":"Hipohidroz-mine hipoplazisi-palmoplantar keratoderma-zihinsel yetersizlik sendromu","synonyms":["Shaheen sendromu"]}},"xrefs":[{"source":"OMIM","code":"615328","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014131","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809160","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COG6","name":"component of oligomeric golgi complex 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23606727[PMID]","hgnc":"18621","ensembl":"ENSG00000133103","omim":"606977","loci":["13q14.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"23606727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-07","source":"23606727[PMID]_26260076[PMID]","terms":[{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003160","label":"Abnormal isoelectric focusing of serum transferrin","frequency":"Excluded (0%)","criteria":null}]}}