{"orpha":391677,"name":"Short stature-optic atrophy-Pelger-Huët anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SOPH syndrome"],"definition":"A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391677/","orphanet_url":"https://www.orpha.net/en/disease/detail/391677","names":{"fr":{"name":"Syndrome de petite taille-atrophie optique-anomalie de Pelger-Huët","synonyms":["Syndrome SOPH"],"definition":"Anomalie rare du développement embryonnaire d'origine génétique, liée à un défaut de développement pendant l'embryogenèse, caractérisée par un retard sévère de croissance postnatale, une dysmorphie craniofaciale, à savoir aspect facial progéroïde, brachycéphalie avec hypoplasie des tubercules frontaux et pariétaux et zone occipitale aplatie, front étroit, glabelle proéminente, orbite de petite taille, légère exophtalmie bilatérale, nez droit, pommettes hypoplasiques, long philtrum et lèvres minces, anomalies squelettiques (micromélie, brachydactylie et forme sévère de petite taille avec membres courts), une intelligence normale, l'anomalie leucocytaire de Pelger-Huët, une peau lâche avec diminution de la turgescence des tissus et une atrophie optique bilatérale avec perte de la vision des couleurs et de l'acuité visuelle. Une insuffisance hépatique récurrente déclenchée par la fièvre a été rapportée dans certains cas. Les radiographies peuvent révéler un retard de l'âge osseux, une ossification tardive et/ou une ostéoporose."},"de":{"name":"Kleinwuchs-Optikusatrophie-Pelger-Huët-Anomalie-Syndrom","synonyms":["SOPH-Syndrom"],"definition":"Ein seltenes, genetisches Fehlbildungssyndrom, das aus einem Entwicklungsdefekt während der Embryogenese resultiert und gekennzeichnet ist durch schwere postnatale Wachstumsretardierung, kraniofaziale Dysmorphien (inkl. progeroide Gesichtsmerkmale, Brachyzephalie mit Hypoplasie der Frontal- und Parietalhöcker und flachen Okzipitalbereich, schmale Stirn, prominente Glabella, kleine Orbita, leichter bilateraler Exophthalmus, gerade Nase, hypoplastische Wangenknochen, langes Philtrum und dünne Lippen), Skelettanomalien (Mikromelie, Brachydaktylie und starker Kleinwuchs mit kurzen Gliedmaßen), Pelger-Huët-Anomalie der Leukozyten, schlaffe Haut mit vermindertem Gewebeturgor und beidseitige Optikusatrophie mit Verlust des Farbsehens und der Sehschärfe. Es gibt keine Beeinträchtigungen der Intelligenz. Gelegentlich wurde über rezidivierendes Leberversagen, ausgelöst durch Fieber, berichtet. Röntgenbilder können ein verzögertes Knochenalter, eine späte Verknöcherung und/oder Osteoporose zeigen."},"es":{"name":"Síndrome de talla baja-atrofia óptica-anomalía de Pelger-Huët","synonyms":["Síndrome SOPH"],"definition":"Es un síndrome malformativo congénito, de origen genético y poco frecuente, caracterizado por un grave retraso del crecimiento post-natal, dismorfia craneofacial, incluyendo una apariencia facial progeroide, braquicefalia con hipoplasia de la prominencia frontal y parietal y área occipital plana, frente estrecha, glabela prominente, órbitas pequeñas, leve exoftalmos bilateral, nariz recta, pómulos hipoplásicos, filtrum largo y labios finos, anomalías esqueléticas (como micromelia, braquidactilia y talla baja extrema con extremidades cortas), inteligencia normal, anomalía de Pelger-Huët (anomalía en los glóbulos blancos de la sangre), piel laxa con alteración de la turgencia tisular y atrofia óptica bilateral con pérdida de la visión del color y de la agudeza visual. Ocasionalmente, se ha descrito insuficiencia hepática recurrente desencadenada por fiebre. Las radiografías pueden mostrar retraso en la edad ósea, osificación tardía y/u osteoporosis."},"it":{"name":"Sindrome da bassa statura-atrofia ottica-anomalia di Pelger-Huët","synonyms":["Sindrome SOPH"],"definition":"Si tratta di una malattia malformativa genetica rara, causata da un difetto di sviluppo dell'embrione, caratterizzata da grave ritardo della crescita postnatale, dismorfismi craniofacciali (tratti del viso progeroidi, brachicefalia con ipoplasia dei tubercoli frontali e parietali e appiattimento dell'area occipitale, fronte stretta, glabella prominente, orbite piccole, lieve esoftalmo bilaterale, naso diritto, zigomi ipoplastici, filtro lungo e labbra sottili), anomalie scheletriche (micromelia, brachidattilia, statura notevolmente bassa con accorciamento degli arti), intelligenza normale, anomalia di Pelger-Huët nei leucociti, cute cadente con riduzione del turgore dei tessuti, atrofia ottica bilaterale associata a perdita della visione dei colori e dell'acuità visiva. Occasionalmente, è stata osservata un'insufficienza renale ricorrente scatenata dalla febbre. Le radiografie possono evidenziare il ritardo dell'età ossea e dell'ossificazione e/o l'osteoporosi."},"nl":{"name":"Kleine gestalte - opticusatrofie - anomalie van Pelger-Huët-syndroom","synonyms":["SOPH-syndroom"],"definition":"Een zeldzaam, genetisch malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door ernstige, postnatale groeiretardatie, craniofaciale dysmorfie, met onder meer een progeroïd uiterlijk van het gelaat, brachycefalie met hypoplasie van het tuber frontale en het tuber parietale en een plat achterhoofd, smal voorhoofd, prominente glabella, smalle oogkassen, lichte bilaterale exophthalmus, rechte neus, hypoplastische jukbeenderen, lang filtrum en dunne lippen, skeletanomalieën (i.e. micromelie, brachydactylie, en ernstig kleine gestalte met korte ledematen), normale intelligentie, Pelger-Huët anomalie van leukocyten, losse huid met verminderde turgor in weefsels, en bilaterale opticusatrofie met verlies van kleurenzicht en gezichtsscherpte. Recurrent leverfalen uitgelokt door koorts werd occasioneel gerapporteerd. Radiografie kan bewijs leveren voor vertraagde botmaturatie, late ossificatie en/of osteoporose."},"pt":{"name":"Síndrome de baixa estatura-atrofia óptica-anomalia Pelger-Huët","synonyms":["Síndrome SOPH"]},"pl":{"name":"Zespół niski wzrost-atrofia nerwu wzrokowego-anomalia Pelgera i Huëta","synonyms":["Zespół SOPH"]},"cs":{"name":"Syndrom zahrnující malý vzrůst, atrofii optiku a Pelgerovu-Huëtovu anomálii","synonyms":["SOPH syndrom","Syndrom zahrnující malý vzrůst, atrofii optiku a Pelger-Huëtovu anomálii"]},"uk":{"name":"Синдром низькорослості-атрофії зорового нерва-аномалії Пельгера-Гюе","synonyms":["Синдром SOPH"],"definition":"A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis."},"zh":{"name":"身材矮小-视神经萎缩-佩-休异常综合征","synonyms":["SOPH综合征"],"definition":"本病是胚胎发育畸形综合征的一种罕见的遗传性发育缺陷，特征为严重的出生后发育迟缓、颅面畸形（包括面部发育迟缓，伴有额部和顶部结节发育不良的短头畸形，枕区平坦，额头狭窄，眉毛突出，眼眶小，双侧轻微突眼，直鼻，颧骨发育不良，长人中，薄唇）、骨骼异常(如矮小症、短指和严重矮小伴四肢短小)、智力正常、白细胞Pelger-HuÙt异常、皮肤松弛伴组织肿胀减少、双侧视神经萎缩和色觉和视力丧失。由发烧引发的反复性肝功能衰竭也偶有报道。X光片可能证明骨龄延迟、晚期骨化和/或骨质疏松症。"},"tr":{"name":"Kısa boy-optik atrofi-Pelger-Huët anomali sendromu","synonyms":["SOPH sendromu"]}},"xrefs":[{"source":"OMIM","code":"614800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3541319","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"NBAS","name":"NBAS subunit of NRZ tethering complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20577004[PMID]","hgnc":"15625","ensembl":"ENSG00000151779","omim":"608025","loci":["2p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":39.0,"area":"Worldwide","status":"Validated","source":"20577004[PMID]_26286438[PMID]_29955634[PMID]_27789416[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20577004[PMID]_29955634[PMID]_27789416[PMID]"}],"phenotypes":null}