{"orpha":3310,"name":"Tetrasomy 9p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isochromosome 9p"],"definition":"Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3310/","orphanet_url":"https://www.orpha.net/en/disease/detail/3310","names":{"fr":{"name":"Syndrome de tétrasomie 9p","synonyms":["Isochromosome 9p surnuméraire"],"definition":"Anomalie rare des autosomes caractérisée par un retard de croissance pré- et postnatal, un retard psychomoteur, une déficience intellectuelle légère à modérée, une hypotonie, une microcéphalie, une dysmorphie (hypertélorisme oculaire, oreilles malformées d'implantation basse, nez bulbeux/en forme de bec, micro-rétrognathie, énophtalmie/micropthalmie, épicanthus, strabisme), fente labio-palatine, anomalies squelettiques (hypoplasie des ongles/ de la partie distale des phalanges, petite taille, cou court, contractures), malformations cardiaques congénitales, malformations rénales et urogénitales (hypoplasie rénale, hypoplasie génitale, cryptorchidie)."},"de":{"name":"Tetrasomie 9p","definition":"Tetrasomie 9p ist eine seltene autosomale Anomalie, die durch prä- und postnatale Wachstumsretardierung, psychomotorische Verzögerung und leichte bis mäßige Intelligenzminderung gekennzeichnet ist. Weitere Symptome sind Hypotonie, Mikrozephalie, dysmorphe Merkmale (okulärer Hypertelorismus, tief angesetzte, fehlgebildete Ohren, bulböse/schnabelartige Nase, Mikroretrognathie, Enophthalmie/Mikrophthalmie, Epikanthus, Strabismus), Lippen-Kiefer-Gaumenspalte, Skelettanomalien (hypoplastische Nägel/Distalphalangen, Kleinwuchs, kurzer Hals, Kontrakturen), angeborene Herzfehler sowie renale und urogenitale Fehlbildungen (Nierenhypoplasie, Genitalhypoplasie, Kryptorchismus)."},"es":{"name":"Síndrome de tetrasomía 9p","synonyms":["Isocromosoma 9p"],"definition":"Es una anomalía autosómica poco frecuente caracterizada por retraso en el crecimiento pre- y postnatal, retraso psicomotor, discapacidad intelectual de leve a moderada, hipotonía, microcefalia, características dismórficas (hipertelorismo ocular, orejas malformadas de baja implantación, nariz bulbosa / en pico, microretrognatia, enoftalmos / microftalmia, epicanto, estrabismo), labio leporino / paladar hendido, anomalías esqueléticas (uñas / falanges distales hipoplásicas, talla baja, cuello corto, contracturas), defectos cardíacos congénitos, malformaciones renales y urogenitales (hipoplasia renal, hipoplasia genital, criptorquidia)."},"it":{"name":"Sindrome tetrasomia 9p","synonyms":["Isocromosoma 9p"],"definition":"La tetrasomia 9p è un'anomalia cromosomica rara, caratterizzata da ritardo della crescita pre- e post-natale, ritardo psicomotorio, disabilità intellettiva lieve o moderata, ipotonia, microcefalia, dismorfismi facciali (ipertelorismo oculare, orecchie malformate e a basso impianto, naso globoso/a becco, microretrognazia, enoftalmo/microftalmo, epicanto, strabismo) labio/palatoschisi, anomalie scheletriche (ipoplasia delle unghie/falangi distali, bassa statura, collo corto, contratture), cardiopatie congenite, malformazioni renali e urogenitali (ipoplasia dei reni e dei genitali, criptorchidismo)."},"nl":{"name":"Tetrasomie 9p-syndroom","synonyms":["Isochromosoom 9p"],"definition":"Tetrasomie 9p is een zeldzame autosomale anomalie die gekarakteriseerd wordt door pre- en postnatale groeiretardatie, psychomotorische achterstand, milde tot matige intellectuele achterstand, hypotonie, microcefalie, dysmorfe kenmerken (oculair hypertelorisme, laagstaande en misvormde oren, bolvormige/bekvormige neus, micro-/retrognathie, enoftalmie/microftalmie, epicanthus, strabisme), gespleten lip/verhemelte, skeletafwijkingen (hypoplastische nagels/distale falangen, kleine gestalte, korte nek/hals, contracturen), congenitale hartdefecten, renale en urogenitale malformaties (renale hypoplasie, genitale hypoplasie, cryptorchidie)."},"pt":{"name":"Tetrassomia 9p"},"pl":{"name":"Zespół tetrasomii 9p","synonyms":["Izochromosom 9p"],"definition":"*Tetrasomia 9p jest rzadką aberracją chromosomową dotyczącą autosomu, która charakteryzuje się opóźnieniem wzrostu przed i po urodzeniu, opóźnieniem psychoruchowym, łagodną lub umiarkowaną niepełnosprawnością intelektualną, obniżeniem napięcia, małogłowiem, cechami dysmorfii (hiperteloryzm oczu, nisko osadzone, zniekształcone uszy, bulwiasty/dziobiasty nos, mikroretrognacja, zapadnięcie gałek ocznych/małoocze, zmarszczki nakątne, zez). Opisywano także rozszczep wargi/podniebienia, nieprawidłowości układu szkieletowego (niedorozwój paznokci/niedorozwój dystalnych paliczków, niski wzrost, krótka szyja, przykurcze), wrodzone wady serca, wady nerek i układu moczowo-płciowego (niedorozwój nerek, niedorozwój narządów płciowych, wnętrostwo)."},"cs":{"name":"Tetrazomie 9p","synonyms":["Izochromozom 9p"]},"uk":{"name":"Тетрасомія 9p","synonyms":["Ізохромосома 9p"],"definition":"Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)."},"zh":{"name":"9号染色体短臂四倍体","synonyms":["9号染色体短臂等臂"]},"tr":{"name":"Tetrazomi 9p","synonyms":["İzokromozom 9p"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1426428869"},{"source":"MONDO","code":"0018030","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795832","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"42","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262767,"name":"Partial duplication/triplication of the short arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25847481[PMID]_25944096[PMID]_25951732[PMID]_26216333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25847481[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-12","source":"4772080[PMID]_25847481[PMID]_22487875[PMID]_9781058[PMID]_16226972[PMID]_14735590[PMID]_26216333[PMID]","terms":[{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011044","label":"Abnormal number of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006710","label":"Aplasia/Hypoplasia of the clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005912","label":"Biliary atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040262","label":"Glue ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030031","label":"Small toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000719","label":"Inappropriate behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011646","label":"Juxtaductal coarctation of the aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}