{"orpha":1449,"name":"Ring chromosome 7 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 7","Ring chromosome 7"],"definition":"Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1449/","orphanet_url":"https://www.orpha.net/en/disease/detail/1449","names":{"fr":{"name":"Syndrome du chromosome 7 en anneau","synonyms":["Chromosome 7 en anneau"],"definition":"Anomalie chromosomique rare, de phénotype très variable, principalement caractérisée par un retard de croissance, une petite taille, une déficience intellectuelle, des anomalies dermatologiques (naevus en tache de vin, naevus à pigmentation foncée, taches café-au-lait), une microcéphalie et une dysmorphie faciale (asymétrie faciale, petites oreilles, fentes palpébrales anormales, ptosis, épicanthus, hyper/hypotélorisme). Les autres signes cliniques décrits sont des convulsions, une fente labiale et palatine, une clinodactylie, une cyphoscoliose et des anomalies génitales (cryptorchidie, hypospadias, micropénis)."},"de":{"name":"Ringchromosom-7-Syndrom","synonyms":["Ringchromosom 7"],"definition":"Das Ringchromosom-7-Syndrom ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der hauptsächlich durch Wachstumsstörungen, Kleinwuchs, Intelligenzminderung, dermatologische Anomalien (Naevus flammeus, dunkel pigmentierte Nävi, Café-au-lait-Flecken), Mikrozephalie und Gesichtsdysmorphien (inkl. Gesichtsasymmetrie, kleine Ohren, abnorme Lidspalten, Ptosis, Epikanthusfalten, Hyper-/Hypotelorismus) gekennzeichnet ist. Weitere berichtete Merkmale sind Krämpfe, Lippen- und Gaumenspalten, Klinodaktylie, Kyphoskoliose und genitale Anomalien (d. h. Kryptorchismus, Hypospadie, Mikropenis)."},"es":{"name":"Síndrome del cromosoma 7 en anillo","synonyms":["Anillo 7","Cromosoma 7 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente con un fenotipo altamente variable. Está caracterizado fundamentalmente por retraso en el crecimiento, talla baja, discapacidad intelectual, anomalías dermatológicas (nevus flammeus, nevos pigmentados oscuros, manchas café con leche), microcefalia y dismorfia facial (incluyendo asimetría facial, orejas pequeñas, fisuras palpebrales anómalas, ptosis, pliegues epicánticos, hiper-/hipotelorismo). Otros hallazgos adicionales descritos incluyen convulsiones, labio leporino y paladar hendido, clinodactilia, cifoescoliosis y anomalías genitales (es decir, criptorquidia, hipospadias, micropene)."},"it":{"name":"Cromosoma 7 ad anello","definition":"Il cromosoma 7 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da ritardo della crescita, bassa statura, disabilità intellettiva, anomalie cutanee (nevo flammeo, nevi con pigmentazione scura, macchie caffè-latte), microcefalia e dismorfismi facciali (asimmetria del volto, orecchie piccole, anomalo orientamento delle rime palpebrali, ptosi, epicanto, iper/ipotelorismo). Altri segni clinici sono le convulsioni, la labioschisi e la palatoschisi, la clinodattilia, la cifoscoliosi e le anomalie dei genitali (criptorchidismo, ipospadia, micropene)."},"nl":{"name":"Ringchromosoom 7-syndroom","synonyms":["Ring 7","Ringchromosoom 7"],"definition":"Ringchromosoom 7 syndroom is een zeldzaam syndroom met een chromosomale anomalie en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door groeifalen, kleine gestalte, intellectuele achterstand, dermatologische afwijkingen (naevus flammeus, donker gepigmenteerde naevi, café-au-lait vlekken), microcefalie en faciale dysmorfie (inclusief faciale asymmetrie, kleine oren, abnormale ooglidspleten, ptose, epicanthusplooien, hyper-/hypotelorisme). Bijkomende gerapporteerde kenmerken zijn onder meer convulsies, gespleten lip en verhemelte, clinodactylie, kyfoscoliose en genitale anomalieën (i.e. cryptorchidie, hypospadieën, micropenis)."},"pt":{"name":"Síndrome de cromossoma 7 em anel","synonyms":["Anel do cromossoma 7"]},"pl":{"name":"Chromosom pierścieniowy 7","synonyms":["Ring 7","Ring chromosome 7"]},"cs":{"name":"Ring chromozom 7","synonyms":["Ring 7","Ring chromosome 7"]},"uk":{"name":"Синдром кільцевої хромосоми 7","synonyms":["Кільце 7","Кільцева хромосома 7"],"definition":"Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)."},"zh":{"name":"7号环状染色体综合征","synonyms":["7号环状染色体"]},"tr":{"name":"Halka kromozom 7 sendromu","synonyms":["Ring 7","Halka kromozomu 7"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015441","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795818","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1345","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"23509645[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23509645[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-14","source":"15337469[PMID]_15580634[PMID]_21303521[PMID]_2395166[PMID]_23509645[PMID]_24677512[PMID]_26669311[PMID]_10905891[PMID]_10797441[PMID]_8362903[PMID]_8428052[PMID]_1746606[PMID]_4145271[PMID]_7172483[PMID]_6705244[PMID]_3150243[PMID]_2189730[PMID]","terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004425","label":"Flat forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009899","label":"Prominent crus of helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009933","label":"Narrow naris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007481","label":"Hyperpigmented nevi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004619","label":"Lumbar kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009779","label":"3-4 toe syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Very rare (<4-1%)","criteria":null}]}}