{"orpha":459061,"name":"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Developmental delay-short stature-dysmorphic features-sparse hair syndrome","Loucks-Innes syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459061/","orphanet_url":"https://www.orpha.net/en/disease/detail/459061","names":{"fr":{"name":"Syndrome de dysplasie craniofaciale-petite taille-anomalies ectodermiques-déficience intellectuelle","synonyms":["Syndrome de Loucks-Innes"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une dysmorphie craniofaciale (forme anormale du crâne, hypertélorisme, fentes palpébrales inclinées vers le bas, épicanthus, oreilles d'implantation basse, pont nasal déprimé, micrognathie), une petite taille, des anomalies ectodermiques (sourcils, cils et cheveux clairsemés, hypoplasie des ongles de pieds), un retard de développement et une déficience intellectuelle. Les autres caractéristiques peuvent inclure des malformations cérébrales/cérébelleuses et une légère atteinte rénale."},"de":{"name":"Kraniofaziale Dysplasie-Kleinwuchs-ektodermale Anomalien-Intelligenzminderung-Syndrom","synonyms":["Entwicklungsverzögerung-Kleinwuchs-dysmorphe Merkmale-spärliches Haar-Syndrom","Loucks-Innes-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Dysmorphie-Syndrom mit multiplen kongenitalen Anomalien. Es ist gekennzeichnet durch kraniofazialen Dysmorphien (einschließlich einer abnormalen Schädelform, Hypertelorismus, schräg abwärts verlaufende Lidspalten, Epikanthusfalten), Kleinwuchs, ektodermale Anomalien (wie spärliche Augenbrauen, Augenlider und Kopfhaut, Mikrognathie), Entwicklungsverzögerung und Intelligenzminderung. Zusätzliche Merkmale können zerebrale/zerebelläre Fehlbildungen und eine leichte Nierenbeteiligung sein."},"es":{"name":"Síndrome de displasia craneofacial-talla baja-anomalías ectodérmicas-discapacidad intelectual","synonyms":["Síndrome de Loucks-Innes","Síndrome de retraso del desarrollo-talla baja-rasgos dismórficos-cabello escaso"],"definition":"Es un síndrome dismórfico con múltiples anomalías congénitas, de origen genético y poco frecuente. Se caracteriza por dismorfia craneofacial (incluye alteraciones de la morfología craneal, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, pliegues epicánticos, orejas de implantación baja, puente nasal deprimido, micrognatia), talla baja, anomalías ectodérmicas (tales como cejas, pestañas y cabello escasos, uñas de los pies hipoplásicas), retraso psicomotor y discapacidad intelectual. Otros hallazgos adicionales pueden incluir malformaciones cerebrales/ cerebelosas y leve afectación renal."},"it":{"name":"Sindrome displasia craniofacciale-bassa statura-anomalie ectodermiche-disabilità intellettiva","synonyms":["Sindrome ritardo dello sviluppo-bassa statura-caratteristiche dismorfiche-capigliatura rada","Sindrome Loucks-Innes"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi craniofacciali (anomalie della forma del cranio, ipertelorismo, rime palpebrali oblique verso il basso, epicanto, orecchie a basso impianto, sella nasale infossata, micrognazia), bassa statura, anomalie ectodermiche (sopracciglia, ciglia e capelli radi, unghie dei piedi ipoplastiche), ritardo dello sviluppo e disabilità intellettiva. I pazienti possono presentare anche malformazioni cerebrali/cerebellari e un lieve interessamento renale."},"nl":{"name":"Craniofaciale dysplasie - kleine gestalte - ectodermale anomalieën - intellectuele achterstand-syndroom","synonyms":["Ontwikkelingsachterstand - kleine gestalte - dysmorfe kenmerken - schaars haar-syndroom","Syndroom van Loucks-Innes"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door craniofaciale dysmorfie (inclusief een abnormale schedelvorm, hypertelorisme, schuin naar beneden hellende ooglidspleten, epicanthusplooien, laagstaande oren, ingezakte neusbrug, micrognathie), kleine gestalte, ectodermale anomalieën (zoals schaarse wenkbrauwen, wimpers, en hoofdhaar, hypoplastische teennagels), ontwikkelingsachterstand, en intellectuele achterstand. Cerebrale/cerebellaire malformaties en milde betrokkenheid van de nieren kunnen bijkomende kenmerken zijn."},"pt":{"name":"Síndrome de displasia craniofacial-baixa estatura-anomalias ectodérmicas-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Loucks-Innes","Síndrome de perturbação do desenvolvimento-baixa estaura-dismorfia-cabelo ralo"]},"pl":{"name":"Zespół dysplazji czaszkowo-twarzowej, niskiego wzrostu, anomalii ektodermalnych i niepełnosprawności intelektualnej","synonyms":["Zespół opóźnienia rozwoju, niskiego wzrostu, cech dysmorficznych i rzadkich włosów"]},"cs":{"name":"Syndrom zahrnující kraniofaciální dysmorfismus, malý vzrůst, anomálie ektodermu a mentální retardaci","synonyms":["Developmental delay-short stature-dysmorphic features-sparse hair syndrome","Loucks-Innes syndrome"]},"uk":{"name":"Синдром черепно-лицьової дисплазії-низькорослості-ектодермальних аномалій-інтелектуальної недостатності","synonyms":["Синдром затримки розвитку - низькорослості - дисморфних рис - рідкого волосся","Синдром Лукса-Іннеса"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement."},"zh":{"name":"颅面发育不良-身材矮小-外胚层异常-智力障碍综合征","synonyms":["发育延迟-身材矮小-畸形特征-头发稀疏综合症"],"definition":"一种罕见的遗传多发性先天性异常/畸形综合征，其特征是颅面畸形（包括颅骨形状异常、器官间距过远、下睑裂、内眦赘皮褶、低位耳、鼻梁凹陷、小颌畸形），身材矮小、外胚层异常（如眉毛、睫毛和头皮毛发稀疏、趾甲松弛）、发育迟缓和智力障碍。其他特征可能包括大脑/小脑畸形和轻度肾脏受累。"},"tr":{"name":"Kraniyofasiyal displazi-kısa boy-ektodermal anomaliler-zihinsel yetersizlik sendromu","synonyms":["Gelişme geriliği-kısa boy-dismorfik özellikler-seyrek saç sendromu"]}},"xrefs":[{"source":"OMIM","code":"616901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620062","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"800438","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"DPH1","name":"diphthamide biosynthesis 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26220823[PMID]","hgnc":"3003","ensembl":"ENSG00000108963","omim":"603527","loci":["17p13.3"]},{"symbol":"DPH2","name":"diphthamide biosynthesis 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32576952[PMID]","hgnc":"3004","ensembl":"ENSG00000132768","omim":"603456","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26220823[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26220823[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-16","source":"29362492[PMID]_29410513[PMID]_26220823[PMID]_25558065[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007291","label":"Posterior fossa cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012712","label":"Mild hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004442","label":"Sagittal craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Occasional (29-5%)","criteria":null}]}}