{"orpha":264200,"name":"14q22q23 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["14q22-q23 microdeletion syndrome","Del(14)(q22q23)","Monosomy 14q22-q23","Monosomy 14q22q23"],"definition":"14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-264200/","orphanet_url":"https://www.orpha.net/en/disease/detail/264200","names":{"fr":{"name":"Syndrome de microdélétion 14q22q23","synonyms":["Monosomie 14q22q23","Syndrome de microdélétion 14q22-q23","Del(14)(q22q23)","Monosomie 14q22-q23"],"definition":"Délétion partielle rare du bras long du chromosome 14 caractérisée par des anomalies oculaires (anopthalmie/microphtalmie, ptosis, hypertélorisme, exophtalmie), des anomalies hypophysaires (hypoplasie/aplasie hypophysaire avec déficit en hormone de croissance et retard de croissance) et des anomalies de la main et du pied (polydactylie, doigts courts, pieds creux). Les autres caractéristiques cliniques peuvent inclure une hypotonie musculaire, un retard de développement psychomoteur/une déficience intellectuelle, une dysmorphie faciale (asymétrie faciale, microrétrognathie, palais ogival, anomalies de l'oreille), des malformations génito-urinaires congénitales, une déficience auditive. L'expression des petites délétions en 14q22 peut être variable."},"de":{"name":"Mikrodeletionsyndrom 14q22q23","synonyms":["Del(14)(q22q23)","Mikrodeletionsyndrom 14q22-q23","Monosomie 14q22-q23","Monosomie 14q22q23"]},"es":{"name":"Síndrome de microdeleción 14q22q23","synonyms":["Del(14)(q22q23)","Monosomía 14q22-q23","Monosomía 14q22q23","Síndrome de microdeleción 14q22-q23"],"definition":"El síndrome de microdeleción 14q22q23 es una alteración cromosómica poco frecuente, consecuencia de una deleción parcial del brazo largo del cromosoma 14. Está caracterizado por anomalías oculares (anoftalmia / microftalmia, ptosis palpebral, hipertelorismo, exoftalmos), anomalías hipofisarias (hipoplasia / aplasia hipofisaria con deficiencia de la hormona de crecimiento y retraso del crecimiento) y anomalías de manos / pies (polidactilia, dedos cortos, pie cavo). Otras características clínicas descritas incluyen hipotonía muscular, retraso del desarrollo psicomotor / discapacidad intelectual, signos dismórficos (asimetría facial, microretrognatia, paladar ojival, anomalías auriculares), malformaciones genitourinarias congénitas, deficiencia auditiva. Deleciones más pequeñas en 14q22 pueden tener una expresión variable."},"it":{"name":"Sindrome da microdelezione 14q22q23","synonyms":["Del(14)(q22q23)","Monosomia 14q22-q23","Monosomia 14q22q23","Sindrome da microdelezione 14q22-q23"],"definition":"La sindrome da microdelezione 14q22q23 consiste in una delezione parziale rara del braccio lungo del cromosoma 14. È caratterizzata da anomalie oculari (anoftalmia/microftalmia, ptosi, ipertelorismo, esoftalmo), anomalie dell'ipofisi (ipoplasia/aplasia dell'ipofisi con deficit dell'ormone della crescita e ritardo della crescita) ed anomalie delle mani e dei piedi (polidattilia, dita corte, piede cavo). Altri segni clinici comprendono l'ipotonia muscolare, il ritardo dello sviluppo psicomotorio, la disabilità intellettiva, i dismorfismi (asimmetria del volto, microretrognazia, palato ogivale, anomalie delle orecchie), le malformazioni genito-urinarie congenite e la compromissione dell'udito. Le delezioni di 14q22 di dimensioni più piccole possono avere un'espressione variabile."},"nl":{"name":"14q22q23-microdeletiesyndroom","synonyms":["14q22-q23-microdeletiesyndroom","Del(14)(q22q23)","Monosomie 14q22-q23","Monosomie 14q22q23"],"definition":"14q22q23 microdeletiesyndroom is een zeldzame partiële deletie van de lange arm van chromosoom 14, en wordt gekarakteriseerd door oculaire anomalieën (anoftalmie/microftalmie, ptose, hypertelorisme, exophthalmus), anomalieën van de hypofyse (hypoplasie/aplasie van de hypofyse met groeihormoondeficiëntie en groeiretardatie) en anomalieën van de handen/voeten (polydactylie, korte vingers/tenen, pes cavus). Andere mogelijke klinische kenmerken zijn onder meer musculaire hypotonie, psychomotorische en intellectuele ontwikkelingsachterstand, dysmorfe tekenen (asymmetrisch gezicht, microretrognathie, hoog gebogen verhemelte, ooranomalieën), congenitale genito-urinaire malformaties, en gehoorstoornis. kleinere deleties van 14q22 kunnen een variabele expressie vertonen."},"pt":{"name":"Síndrome de microdeleção 14q22q23"},"pl":{"name":"Zespół mikrodelecji 14q22q23","synonyms":["Del(14)(q22q23)","Monosomia 14q22q23","Monosomia 14q22-q23","Zespół mikrodelecji 14q22-q23"]},"cs":{"name":"Syndrom mikrodelece 14q22q23","synonyms":["Del(14)(q22q23)","Monozomie 14q22-q23","Monozomie 14q22q23","14q22-q23 mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 14q22q23","synonyms":["Синдром мікроделеції 14q22-q23","Del(14)(q22q23)","Моносомія 14q22q23","Моносомія 14q22-q23"],"definition":"14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression."},"zh":{"name":"14q22q23微缺失综合征","synonyms":["14q22-q23微缺失综合征"],"definition":"14q22q23微缺失综合征是一种罕见的14号染色体长臂部分缺失，以眼畸形(眼球异常/小眼球、上睑下垂、眼距过宽、突眼症)、垂体异常(垂体发育不良/发育不全伴生长激素缺乏和生长迟缓)和手足畸形(多指、短指、弓形足)为特征。其他临床特征可能包括肌肉张力低下、精神运动发育迟缓/智力障碍、畸形体征(面部不对称、小颌缩颌、高腭弓、耳朵畸形)、先天性泌尿生殖系统畸形、听力障碍。较小的14q22缺失可能有不同表现。"},"tr":{"name":"14q22q23 mikrodelesyon sendromu","synonyms":["Del(14)(q22q23)","Monozomi 14q22q23","Monozomi 14q22-q23","14q22-q23 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"609640","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"917510768"},{"source":"MONDO","code":"0012324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864825","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2055,"name":"Growth deficiency-brachydactyly-dysmorphism syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24311462[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24311462[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16088912[PMID]","terms":[{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012521","label":"Optic nerve aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}