{"orpha":2994,"name":"Short stature-craniofacial anomalies-genital hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Haspeslagh-Fryns-Muelenaere syndrome"],"definition":"A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2994/","orphanet_url":"https://www.orpha.net/en/disease/detail/2994","names":{"fr":{"name":"Syndrome de petite taille-anomalies craniofaciales-hypoplasie génitale","synonyms":["Syndrome de Haspeslagh-Fryns-Muelenaere"],"definition":"Anomalie rare du développement embryonnaire caractérisée principalement par une déficience intellectuelle sévère, une petite taille, de l'hypogonadisme et une dysmorphie faciale distincte (notamment une trigonocéphalie, un front proéminent, un visage asymétrique et plat, un hypertélorisme, un épicanthus, des fentes palpébrales inclinées vers le bas, un ptosis, les oreilles mal ourlées, implantées bas, une petite bouche, et voûte palatine ogivale avec encombrement dentaire et une microrétrognathie), les mains et/ou les pieds graciles. Parmi les autres caractéristiques cliniques variables, on observe un ptérygion, des mamelons hypoplasiques, des malformations cardiaques, une atrophie musculaire distale, des contractures des membres, des anomalies squelettiques (scoliose, pectus excavatum, pied bot varus équin bilatéral), une hypothyroïdie, des crises convulsives et des anomalies cérébrales. La puberté peut être retardée."},"de":{"name":"Kleinwuchs-kraniofaziale Anomalien-Genitalhypoplasie-Syndrom","synonyms":["Haspeslagh-Fryns-Muelenaere-Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die hauptsächlich durch schwere Intelligenzminderung, Kleinwuchs, Hypogonadismus und ausgeprägte Gesichtsdysmorphien (einschließlich Trigonozephalie, prominente Stirn, asymmetrisches und flaches Gesicht, Hypertelorismus, Epikanthus, schräg abwärts verlaufende Lidspalten, Ptosis, tief angesetzte Ohren, kleiner Mund, hochgewölbte/spitz zulaufende Lidspalten, Mikroretrognathie) sowie schlanke Hände und/oder Füße gekennzeichnet ist. Zu den variablen zusätzlichen Merkmalen können Pterygien, hypoplastische Brustwarzen, Herzanomalien, distaler Muskelschwund, Gliedmaßenkontrakturen, Skelettanomalien (z. B. Skoliose, Pectus excavatum, beidseitige Klumpfüße), Hypothyreose, Krampfanfälle und zerebrale Anomalien gehören. Die Pubertät kann sich verzögern."},"es":{"name":"Síndrome de talla baja-anomalías craneofaciales-hipoplasia genital","definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado principalmente por discapacidad intelectual grave, talla baja, hipogonadismo y dismorfia facial distintiva (incluyendo trigonocefalia, frente prominente, cara asimétrica y aplanada, hipertelorismo, epicanto, fisuras palpebrales inclinadas hacia abajo, ptosis, orejas de implantación baja rotadas, boca pequeña, paladar hendido/ojival, dientes apiñados, microrretrognatia), así como manos y/o pies delgados. Otros hallazgos adicionales variables pueden incluir pterigium, pezones hipoplásicos, anomalías cardíacas, atrofia muscular distal, contracturas de las extremidades, anomalías esqueléticas (p. ej., escoliosis, pectus excavatum, pie zambo bilateral), hipotiroidismo, crisis epilépticas y anomalías cerebrales. La pubertad puede retrasarse."},"it":{"name":"Sindrome bassa statura-dismorfismi craniofacciali-ipoplasia dei genitali","definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da disabilità intellettiva grave, bassa statura, ipogonadismo, dismorfismi facciali caratteristici (trigonocefalia, fronte prominente, viso asimmetrico e appiattito, ipertelorismo, epicanto, rime palpebrali oblique verso il basso, ptosi, orecchie a basso impianto ruotate posteriormente, bocca piccola, palato ogivale/palatoschisi, denti affastellati, microretrognazia) e mani e/o piedi sottili. I pazienti possono presentare anche pterigi, capezzoli ipoplastici, cardiopatie, atrofia dei muscoli distali, contratture degli arti, anomalie scheletriche (ad es. scoliosi, pectus excavatum, piedi torti bilaterali), ipotiroidismo, crisi epilettiche e anomalie cerebrali. Può associarsi a ritardo della pubertà."},"nl":{"name":"Kleine gestalte - craniofaciale anomalieën - genitale hypoplasie-syndroom","synonyms":["Syndroom van Haspeslagh-Fryns-Muelenaere"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, hoofdzakelijk gekarakteriseerd door ernstige intellectuele achterstand, kleine gestalte, hypogonadisme, en kenmerkende faciale dysmorfie (met onder meer trigonocefalie, prominent voorhoofd, asymmetrisch en plat aangezicht, hypertelorisme, epicanthus, schijn naar beneden hellende ooglidspleten, ptose, laagstaande en gedraaide oren, kleine mond, hoog gebogen/gespleten verhemelte, ruimtegebrek van tanden, microretrognathie), alsook slanke handen en/of voeten. Mogelijke variabele bijkomende kenmerken zijn onder meer pterygium, hypoplastische tepels, hartanomalie, atrofie van distale spieren, ledemaatcontracturen, skeletanomalieën (e.g. scoliose, pectus excavatum, bilaterale klompvoet), hypothyreoïdie, insulten, en cerebrale anomalieën. Puberteit kan vertraagd zijn."},"pt":{"name":"Síndrome de baixa estatura-anomalias craniofaciais-hipoplasia genital","synonyms":["Síndrome Haspeslagh-Fryns-Muelenaere"],"definition":"Este síndrome é caracterizado por baixa estatura, anomalias craniofaciais e hipoplasia genital. Na maioria dos casos também é detectado défice cognitivo, por vezes pterígio."},"pl":{"name":"Niski wzrost - wady twarzoczaszki - hipoplazja narządów płciowych","synonyms":["Zespół Haspeslagha, Frynsa i Muelenaere'a"]},"cs":{"name":"Syndrom zahrnující nízký vzrůst, kraniofaciální anomálie a hypoplázii genitálu","synonyms":["Haspeslaghův-Frynsův-Muelenaereův syndrom","Haspeslagh-Fryns-Muelenaereův syndrom"]},"uk":{"name":"Синдром низького зросту-черепно-лицьових аномалій-гіпоплазії геніталій","synonyms":["Синдром Хаспеслага-Фрінса-Мюленаере"],"definition":"A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed."},"zh":{"name":"身材矮小-颅面畸形-生殖器发育不良综合征","synonyms":["Haspeslagh-Fryns-Muelenaere综合征"]},"tr":{"name":"Kısa boy-kraniyofasiyal anomaliler-genital hipoplazi sendromu","synonyms":["Haspeslagh-Fryns-Muelenaere sendromu"]}},"xrefs":[{"source":"OMIM","code":"177980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535844","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867443","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"10733241[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10733241[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","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:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null}]}}