{"orpha":2272,"name":"Ichthyosis-oral and digital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Clayton Smith-Donnai syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include developmental delay, generalized hypotonia, feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2272/","orphanet_url":"https://www.orpha.net/en/disease/detail/2272","names":{"fr":{"name":"Syndrome d'ichtyose-doigts fusiformes-sillon labial médian","synonyms":["Syndrome de Clayton Smith-Donnai"],"definition":"Anomalies congénitales multiple/syndrome dysmorphique rare d'origine génétique, caractérisé par une ichtyose, des anomalies squelettiques et digitales (y compris des déformations en flexion des grosses articulations, des articulations interphalangiennes proximales, une absence de plis en flexion distale des doigts, des doigts effilés, une hypoplasie des orteils et des ongles, une luxation des chevilles) et une dysmorphie faciale (front court, épicanthus, petite bouche et lèvre supérieure fine, sillon médian au niveau de la lèvre inférieure et plénitude de la partie latérale des paupières, une fente palatine peut également être présente). D'autres signes cliniques peuvent inclure un retard de développement, une hypotonie généralisée, des difficultés à s'alimenter, des infections des voies respiratoires et gastro-intestinales récurrentes. Aucun nouveau cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Ichthyose-ungewöhnliches Gesicht-Fingeranomalien-Syndrom","synonyms":["Clayton-Smith-Donnai-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Ichthyose, auffälliges Gesicht (kleiner Mund, dünne Oberlippe, Unterlippe mit Rinne in der Mittellinie) und Fingeranomalien (konische Finger, fehlende distale Beugefurchen, weiter Abstand zwischen II. und III. Finger)."},"es":{"name":"Síndrome de ictiosis-anomalías orales y digitales","synonyms":["Síndrome de Clayton-Smith-Donnai"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por ictiosis, anomalías esqueléticas y digitales (incluyendo deformidades en flexión de las grandes articulaciones, articulaciones interfalángicas proximales, ausencia de pliegues distales de flexión en los dedos, dedos de las manos ahusados, dedos y uñas hipoplásicas, luxación de tobillos) y dismorfia facial (incluyendo frente corta, pliegues epicánticos, boca pequeña con labio superior delgado, surco labial inferior en la línea media y párpados laterales prominentes; también puede asociar paladar hendido). Otras características clínicas pueden incluir retraso en el desarrollo, hipotonía generalizada, dificultades para la alimentación e infecciones torácicas y gastrointestinales recurrentes. No se han descrito más casos en la literatura desde 1989."},"it":{"name":"Ittiosi - anomalie orali e digitali","synonyms":["Sindrome di Clayton Smith-Donnai"]},"nl":{"name":"Ichthyosis - orale en digitale anomalieën-syndroom","synonyms":["Syndroom van Clayton Smith-Donnai"],"definition":"Een syndroom, gekenmerkt door ichthyosis, ongewoon gelaat (kleine mond met dunne bovenlip, en onderlip met een mediane groeve), en anomalieën van digitus (taps toelopende vingers met gebrek aan distale buigplooien en veel ruimte tussen tweede en derde vingers). Ichthyosis - orale en digitale anomalieën-syndroom werd beschreven bij twee broers/zussen van ouders die eerste neef/nicht van elkaar zijn. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de ictiose-anomalias orais e digitais","synonyms":["Ictiose-dedos fusiformes-fosseta mediana no lábio inferior","Síndrome Clayton-Smith-Donnai"]},"pl":{"name":"Rybia łuska - anomalie jamy ustnej i kończyn","synonyms":["Zespół Clayton-Smith i Donnai"]},"cs":{"name":"Syndrom zahrnující ichtyózu a anomálie úst a prstů","synonyms":["Clayton-Smithové-Donnaiové syndrom","Clayton-Smith-Donnaiové syndrom"]},"uk":{"name":"Синдром іхтіозу-аномалій роту та пальців","synonyms":["Синдром Клейтона Сміта-Доннаї"],"definition":"Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive."},"zh":{"name":"鱼鳞病-口指畸形综合征","synonyms":["Clayton Smith-Donnai综合征"]},"tr":{"name":"İktiyoz-oral ve dijital anomaliler sendromu","synonyms":["Clayton Smith-Donnai sendromu"]}},"xrefs":[{"source":"OMIM","code":"258840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"709870223"},{"source":"MONDO","code":"0009792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"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":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2732996[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2732996[PMID]"}],"phenotypes":null}