{"orpha":2246,"name":"Cerebellar hypoplasia-tapetoretinal degeneration syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2246/","orphanet_url":"https://www.orpha.net/en/disease/detail/2246","names":{"fr":{"name":"Syndrome d'hypoplasie cérébelleuse-dégénérescence tapéto-rétinienne","definition":"Syndrome rare avec malformation du cervelet comme manifestation majeure, caractérisé par une hypoplasie cérébelleuse, des modifications pigmentaires bilatérales de la rétine, une déficience intellectuelle dont le degré oscille entre léger et modéré et un retard prononcé de développement du langage. Le syndrome se manifeste par un retard de développement précoce, des troubles non progressifs de la vision centrale et périphérique ou des modifications rétiniennes asymptomatiques, une hypotonie, une ataxie non progressive et un nystagmus."},"de":{"name":"Zerebelläre Hypoplasie-tapetoretinale Degeneration-Syndrom","definition":"Ein seltenes Syndrom mit Kleinhirnfehlbildung als Hauptmerkmal, das durch Kleinhirnhypoplasie, bilaterale retinale Pigmentveränderungen, eine leichte bis mittlere Intelligenzminderung und eine ausgeprägte Sprachentwicklungsverzögerung gekennzeichnet ist. Es zeigt eine frühe Entwicklungsverzögerung, zentrale und periphere nicht-progressive Sehstörungen oder asymptomatische Netzhautveränderungen, Hypotonie, nicht-progressive Ataxie und Nystagmus."},"es":{"name":"Síndrome de hipoplasia cerebelosa-degeneración tapetoretiniana","definition":"Es un síndrome poco frecuente con una malformación cerebelosa como hallazgo principal caracterizado por hipoplasia cerebelosa, cambios pigmentarios retinianos bilaterales, discapacidad intelectual de leve a moderada y retraso profundo del habla. Se presenta con retraso temprano del desarrollo, alteraciones visuales centrales y periféricas no progresivas o cambios retinianos asintomáticos, hipotonía, ataxia no progresiva y nistagmus."},"it":{"name":"Sindrome da ipoplasia cerebellare e degenerazione tapeto-retinica","definition":"La sindrome da ipoplasia cerebellare e degenerazione tapeto-retinica è una malattia rara che ha come segno clinico principale l'ipoplasia cerebellare, associata ad alterazioni bilaterali del pigmento retinico, disabilità intellettiva lieve o moderata e grave ritardo nell'acquisizione del linguaggio. Esordisce con un ritardo precoce dello sviluppo, compromissione non progressiva della visione centrale o periferica oppure alterazioni asintomatiche della retina, ipotonia, atassia non progressiva e nistagmo."},"nl":{"name":"Cerebellaire hypoplasie - tapetoretinale degeneratie-syndroom","definition":"Cerebellaire hypoplasie - tapetoretinale degeneratie-syndroom is een zeldzaam syndroom met een cerebellaire malformatie als hoofdkenmerk, en wordt gekarakteriseerd door cerebellaire hypoplasie, bilaterale veranderingen van pigment in de retina, milde tot matige intellectuele achterstand, en uitgesproken achterstand van de taalontwikkeling. Het manifesteert zich met vroege ontwikkelingsachterstand, centrale en perifere niet-progressieve gezichtsstoornissen of asymptomatische veranderingen van het netvlies, hypotonie, niet-progressieve ataxie en nystagmus."},"pt":{"name":"Síndrome de hipoplasia cerebelosa-degenerescência tapetorretiniana"},"pl":{"name":"Hipolplazja móżdżku - zwyrodnienie tapetoretinalne (naczyniowo-siatkówkowe)","definition":"*Hipoplazja móżdżku - zwyrodnienie tapetoretinalne (naczyniowo-siatkówkowe) jest rzadkim zespołem z wadą móżdżku jako główną cechą, charakteryzuje się niedorozwojem móżdżku, obustronnymi zmianami barwnikowymi siatkówki, niepełnosprawnością intelektualną o nasileniu łagodnym do umiarkowanego, z wyraźnym opóźnieniem rozwoju mowy. W obrazie klinicznym obserwuje się wczesne opóźnienie rozwoju, centralne i obwodowe niepostępujące upośledzenie widzenia lub bezobjawowe zmiany na siatkówce, obniżenie napięcia mięśniowego, niepostępującą ataksję oraz oczopląs."},"cs":{"name":"Syndrom zahrnující hypoplázii mozečku a tapetoretinální degeneraci"},"uk":{"name":"Синдром гіпоплазії мозочка-тапеторетинальної дегенерації","definition":"Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."},"zh":{"name":"小脑发育不良-毯层视网膜变性综合征"},"tr":{"name":"Serebellar hipoplazi-tapetoretinal dejenerasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"213000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"968491860"},{"source":"MONDO","code":"0016392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275139","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1196","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[189]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1622524[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1622524[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}