{"orpha":423454,"name":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ectodermal dysplasia-short stature syndrome","Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"],"definition":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423454/","orphanet_url":"https://www.orpha.net/en/disease/detail/423454","names":{"fr":{"name":"Syndrome d'anomalies des ongles et dents-kératodermie palmoplantaire marginale-hyperpigmentation buccale","synonyms":["Syndrome de dysplasie ectodermique-petite taille","Syndrome de petite taille-dysplasie des ongles-kératodermie palmoplantaire marginale-hyperpigmentation buccale"],"definition":"Un syndrome génétique rare de dysplasie ectodermique, caractérisé par une petite taille, une dystrophie et/ou une perte unguéale, une hyperpigmentation de la muqueuse buccale et/ou de la langue, des anomalies dentaires (éruption dentaire retardée, hypodontie, hypoplasie de l'émail), une kératodermie au niveau des marges des paumes et des plantes de pied, ainsi qu'une hyperkératose focale sur le dos des mains et des pieds. Les autres signes rapportés sont une dysphagie avec un rétrécissement de l'oesophage, une surdité neurosensorielle, un asthme bronchique et une anémie sévère avec carence en fer."},"de":{"name":"Nägel- und Zahn-Anomalien-marginale Palmoplantarkeratose-orale Hyperpigmentierung-Syndrom","synonyms":["Ektodermale Dysplasie-Kleinwuchs-Syndrom","Kleinwuchs-Nageldysplasie-marginales palmoplantares Keratoderm-orale Hyperpigmentierung-Syndrom"],"definition":"Ein seltenes genetisches Syndrom aus der Gruppe der ektodermalen Dysplasien, das gekennzeichnet ist durch Kleinwuchs, Nageldystrophie und/oder Nagelverlust, Hyperpigmentierung der Mundschleimhaut und/oder der Zunge, Zahnanomalien (verzögerter Zahndurchbruch, Hypodontie, Schmelzhypoplasie), Keratodermie an den Rändern der Handflächen und Fußsohlen und fokale Hyperkeratose auf dem Hand- und Fußrücken. Zusätzlich wurden Dysphagie mit Ösophagusstrikturen, sensorineurale Taubheit, Asthma bronchiale und schwere Eisenmangelanämie beobachtet."},"es":{"name":"Síndrome de anomalías en uñas y dientes-queratodermia palmoplantar marginal-hiperpigmentación oral","synonyms":["Síndrome de displasia ectodérmica-talla baja","Síndrome de talla baja-displasia ungueal-queratodermia palmoplantar marginal-hiperpigmentación oral"],"definition":"Es un síndrome de displasia ectodérmica genético y poco frecuente, caracterizado por talla baja, distrofia ungueal y/o pérdida de las uñas, hiperpigmentación de la mucosa oral y/o de la lengua, anomalías en la dentición (erupción retrasada de los dientes, hipodoncia, hipoplasia del esmalte), queratodermia en los márgenes de las palmas y plantas de los pies e hiperqueratosis focal en el dorso de las manos y los pies. Además, se han observado disfagia con estenosis esofágica, sordera neurosensorial, asma bronquial y anemia grave por deficiencia de hierro."},"it":{"name":"Sindrome da anomalie delle unghie e dei denti - cheratoderma palmoplantare marginale - iperpigmentazione orale","synonyms":["Sindrome bassa statura-displasia delle unghie-cheratoderma palmoplantare marginale-iperpigmentazione orale","Sindrome displasia ectodermica-bassa statura"],"definition":"La sindrome che associa anomalie delle unghie e dei denti, cheratoderma palmoplantare marginale, iperpigmentazione orale è una displasia ectodermica rara di origine genetica, caratterizzata da bassa statura, distrofia e/o perdita delle unghie, iperpigmentazione della mucosa orale e/o della lingua, anomalie della dentizione (ritardo nell'eruzione dei denti, ipodontia, ipoplasia dello smalto), cheratoderma localizzato sui margini del palmo delle mani e della pianta dei piedi e ipercheratosi focale sul dorso delle mani e dei piedi. Inoltre, possono associarsi disfagia con stenosi dell'esofago, sordità neurosensoriale, asma bronchiale e grave anemia da carenza di ferro."},"nl":{"name":"Nagel- en tandafwijkingen - marginale palmoplantaire keratodermie - orale hyperpygmentatie-syndroom","synonyms":["Ectodermale dysplasie - kleine gestalte-syndroom","Kleine gestalte - nageldysplasie - marginale palmoplantaire keratodermie - orale hyperpigmentatie-syndroom"],"definition":"Nagel- en tandafwijkingen - marginale palmoplantaire keratodermie - orale hyperpigmentatie-syndroom is een zeldzaam, genetisch ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door een kleine gestalte, dystrofie en/of verlies van nagels, hyperpigmentatie van het wangslijmvlies en/of de tong, gebitsafwijkingen (vertraagde tanderuptie, hypodontie, hypoplasie van tandglazuur), keratodermie op de randen van de handpalmen en voetzolen, en focale hyperkeratose op de rug van de handen en voeten. Bijkomend werden ook reeds dysfagie met oesofageale vernauwingen, sensorineuraal gehoorverlies, astma bronchiale en ernstige ferriprieve anemie (ijzergebreksanemie) waargenomen."},"pt":{"name":"Síndrome de anomalias das unhas e dentes-queratodermia palmoplantar marginal-hiperpigmentação oral"},"pl":{"name":"Zespół nieprawidłowości paznokci i zębów, rogowca dłoniowo-podeszwowego brzeżnego i hiperpigmentacji jamy ustnej","synonyms":["Zespół dysplazji ektodermalnek i niskiego wzrostu","Zespół niski wzrost, dysplazja paznokci, rogowiec dłoniowo-podeszwowy brzeżny i hiperpigmentacja jamy ustnej"]},"cs":{"name":"Syndrom zahrnující abnormality nehtů a zubů, marginální palmoplantární keratoderma a orální hyperpigmentaci","synonyms":["Syndrom zahrnující ektodermální dysplázii a malý vzrůst","Syndrom zahrnující malý vzrůst, dysplázii nehtů, marginální palmoplantární keratoderma a orální hyperpigmentaci"]},"uk":{"name":"Синдром аномалій нігтів і зубів-маргінальної долонно-підошовної кератодермії-гіперпігментації ротової порожнини","synonyms":["Синдром ектодермальної дисплазії - низького зросту","Синдром низькорослості - дисплазії нігтів - маргінальної долонно-підошовної кератодермії - гіперпігментації ротової порожнини"],"definition":"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed."},"zh":{"name":"指甲和牙齿异常-边缘掌跖角皮病-口腔色素沉着综合征","synonyms":["外胚层发育不良症-身材矮小症综合征"],"definition":"指甲和牙齿异常-掌跖边缘角化-口腔色素沉着综合症是一种罕见的遗传性外胚层发育不良综合症，其特征是身材矮小，指甲营养不良和/或指甲脱落，口腔粘膜和/或舌头色素沉着过度，牙列异常（牙齿萌发迟缓，牙齿发育不全，牙釉质异常发育不全），手掌和脚掌边缘的皮肤角化，手掌和脚掌背侧的局灶性角化过度。另外，还发现吞咽困难伴食管狭窄，感觉神经性耳聋，支气管哮喘和严重的铁缺乏性贫血。"},"tr":{"name":"Tırnak ve diş anormallikleri-marjinal palmoplantar keratoderma-oral hiperpigmentasyon sendromu","synonyms":["Boy kısalığı-tırnak displazisi-marjinal palmoplantar keratoderma-oral hiperpigmentasyon sendromu","Ektodermal displazi-kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"616029","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"GRHL2","name":"grainyhead like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25152456[PMID]","hgnc":"2799","ensembl":"ENSG00000083307","omim":"608576","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25152456[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25152456[PMID]"}],"phenotypes":null}