{"orpha":2719,"name":"Oculocerebral hypopigmentation syndrome, Cross type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cross syndrome"],"definition":"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2719/","orphanet_url":"https://www.orpha.net/en/disease/detail/2719","names":{"fr":{"name":"Syndrome oculo-cérébral d'hypopigmentation, type Cross","synonyms":["Syndrome de Cross"],"definition":"Le syndrome oculo-cérébral d'hypopigmentation, type Cross est un syndrome congénital rare caractérisé par une hypopigmentation cutanée et oculaire, de nombreuses anomalies oculaires (par ex. opacité de la cornée et du cristallin, ectropion spastique et /ou nystagmus), un retard de croissance, une déficience intellectuelle et d'autres anomalies neurologiques progressives telles qu'une tétraplégie spastique, une hyperréflexie et/ou des mouvements athétoïdes. Le tableau clinique varie parmi les patients et peut aussi inclure d'autres signes tels que des anomalies des voies urinaires, une malformation de Dandy-Walker et/ou une hernie inguinale bilatérale."},"de":{"name":"Okulozerebrales Hypopigmentierungs-Syndrom Typ Cross","synonyms":["Cross-Syndrom"],"definition":"Das Okulo-zerebrale Hypopigmentierungs-Syndrom Typ Cross ist ein seltenes angeborenes Syndrom mit mangelnder Pigmentierung der Haut und der Augen, verschiedenen Augenanomalien (z.B. Hornhaut- und Linsentrübung, spastisches Ektropium und/oder Nystagmus), Kleinwuchs, intellektuellem Defizit und progredienten neurologischen Anomalien (spastische Tetraparese, Hyperreflexie und/oder athetoide Bewegungen). Das klinische Bild ist von Patient zu Patient unterschiedlich und kann auch weitere Anomalien einschließen (Harnwegsanomalien, Dandy-Walker-Malformation und/oder beidseitige Leistenhernie)."},"es":{"name":"Síndrome oculocerebral-hipopigmentación tipo Cross","synonyms":["Síndrome de Cross","Síndrome hipopigmentación-oculocerebral tipo Cross"],"definition":"El síndrome oculocerebral-hipopigmentación tipo Cross es un síndrome congénito poco frecuente que se caracteriza por hipopigmentación cutánea y ocular, varias anomalías oculares (p.e. opacidad de la córnea y el cristalino, ectropión espástico, y/o nistagmo), déficit de crecimiento, déficit intelectual y otras anomalías neurológicas progresivas tales como tetraplejía espástica, hiperreflexia, y/o movimientos atetoides. El cuadro clínico varía entre pacientes y puede incluso incluir otras anomalías como anomalías en el tracto urinario, malformaciones de Dandy-Walker, y/o hernia inguinal bilateral."},"it":{"name":"Sindrome oculo-cerebrale-ipopigmentazione, tipo Cross","synonyms":["Sindrome di Cross"],"definition":"La sindrome da ipopigmentazione oculocerebrale tipo Cross è una sindrome congenita rara, caratterizzata da ipopigmentazione oculo-cutanea, presenza di diverse anomalie oculari (opacità corneali e del cristallino, ectropion spastico e/o nistagmo), deficit della crescita, deficit cognitivo e altre anomalie neurologiche progressive, come la tetraplegia spastica, l'iperreflessia e/o i movimenti atetoidi. Il quadro clinico è variabile nei diversi pazienti e può comprendere anche altre anomalie come quelle delle vie urinarie, la malformazione di Dandy-Walker e/o l'ernia inguinale bilaterale."},"nl":{"name":"Oculocerebrale hypopigmentatie-syndroom, Cross-type","synonyms":["Syndroom van Cross"],"definition":"Een zeldzaam congenitaal syndroom, gekenmerkt door cutane en oculaire hypopigmentatie, verschillende ooganomalieën (zoals hoornvlies- en lenstroebeling, spastisch ectropion, en/of nystagmus), groeideficiëntie, intellectuele achterstanden andere progressieve neurologische anomalieën zoals spastische tetraplegie, hyperreflexie, en/of athetoïde bewegingen. Het klinische beeld varieert tussen patiënten, en omvat mogelijk ook andere anomalieën zoals afwijkingen van urinewegstelsel, Dandy-Walker malformatie, en/of bilaterale hernia inguinalis (liesbreuk)."},"pt":{"name":"Síndrome hipopigmentação oculo-cerebral, tipo Cross","synonyms":["Síndrome Cross"]},"pl":{"name":"Zespół hipopigmentacji oczno-mózgowej typu Crossa","synonyms":["Zespół Crossa"]},"cs":{"name":"Syndrom okulocerebrální hypopigmentace, Crossův typ","synonyms":["Crossův syndrom"]},"uk":{"name":"Окулоцеребральний синдром з гіпопігментацією, тип Кросс","synonyms":["Перехресний синдром"],"definition":"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia."},"zh":{"name":"眼脑色素沉着不足综合征，Cross型","synonyms":["Cross综合征"]},"tr":{"name":"Oküloserebral hipopigmentasyon sendromu, Cross tip","synonyms":["Çapraz sendrom"]}},"xrefs":[{"source":"OMIM","code":"257800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1046083935"},{"source":"MONDO","code":"0009767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936910","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"105","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"9112000[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9112000[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000071","label":"Ureteral stenosis","frequency":"Occasional (29-5%)","criteria":null}]}}