{"orpha":2108,"name":"Hallermann-Streiff syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["François dyscephalic syndrome","Oculomandibulofacial syndrome"],"definition":"Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2108/","orphanet_url":"https://www.orpha.net/en/disease/detail/2108","names":{"fr":{"name":"Syndrome de Hallermann-Streiff","synonyms":["Syndrome dyscéphalique de François","Syndrome oculomandibulofacial"],"definition":"Syndrome génétique rare caractérisé principalement par des anomalies craniofaciales à type de faciès d'oiseau (nez en forme de bec et rétrognathie), une hypoplasie mandibulaire, une brachycéphalie avec un front proéminent, des anomalies dentaires (par ex. absence de dents, dents natales, dents surnuméraires, agénésie sévère des dents permanentes, hypoplasie de l'émail), une hypotrichose, diverses anomalies oculaires (cataractes congénitales, microphtalmie bilatérale, ptosis, nystagmus) et une atrophie de la peau (en particulier autour du centre du visage et du nez) ainsi qu'une télangiectasie et une petite taille proportionnée. Une déficience intellectuelle est rapportée dans certains cas."},"de":{"name":"Hallermann-Streiff-Syndrom","synonyms":["François-Dyskephaliesyndrom","Okulo-mandibulo-faziales Syndrom"],"definition":"Das Hallermann-Streiff-Syndrom ist ein seltenes genetisches Syndrom, das hauptsächlich durch Kopf- und Gesichtsanomalien wie vogelartiger Fazies (mit schnabelförmiger Nase und Retrognathie), hypoplastischem Unterkiefer, Brachyzephalie mit prominenter Stirn, Zahnfehlbildungen (z. B. Zahnlosigkeit, Geburtszähne, überzählige Zähne, schwere Agenesie bleibender Zähne, Schmelzhypoplasie) gekennzeichnet ist. Auch Hypotrichose, verschiedene Augenerkrankungen (z. B. kongenitale Katarakte, bilaterale Mikrophthalmie, Ptosis, Nystagmus) und Atrophie der Haut (insbesondere um die Gesichts- und Nasenmitte) sowie Teleangiektasien und proportionierter Kleinwuchs können vorkommen. In einigen Fällen liegt ein Intelligenzminderung vor."},"es":{"name":"Síndrome de Hallermann-Streiff","synonyms":["Síndrome discefálico de François","Síndrome oculomandibulofacial"],"definition":"Es un síndrome genético poco frecuente caracterizado principalmente por anomalías craneofaciales, tales como perfil facial ''de pájaro'' (con nariz con forma de pico y retrognatia), hipoplasia mandibular, braquicefalia con frente prominente, alteraciones dentales (p. ej. ausencia de dientes, dientes natales, dientes supernumerarios, agenesia grave de dientes permanentes, hipoplasia del esmalte), hipotricosis, anomalías oculares (p. ej., cataratas congénitas, microftalmia bilateral, ptosis, nistagmus) y zonas atróficas de la piel (especialmente en la zona central de la cara y alrededor de la nariz), así como telangiectasia y talla baja proporcionada. También se han descrito algunos casos que asocian discapacidad intelectual."},"it":{"name":"Sindrome di Hallermann-Streiff","synonyms":["Sindrome discefalica di François","Sindrome oculo-mandibolo-facciale"],"definition":"La sindrome di Hallermann-Streiff (HSF) è una condizione genetica rara, caratterizzata da anomalie cranio-facciali, come la facies da uccello (naso a becco e retrognazia), l'ipoplasia mandibolare, la brachicefalia con fronte bombata, le anomalie dentali (assenza dei denti, denti neonatali, denti soprannumerari, agenesia grave dei denti permanenti, ipoplasia dello smalto), l'ipotricosi, vari difetti oculari (cataratta congenita, microftalmia bilaterale, ptosi, nistagmo), l'atrofia cutanea (in particolare delle aree centrali del viso e del naso), la telangectasia e la statura proporzionatamente bassa. In alcuni casi, è presente deficit cognitivo."},"nl":{"name":"Syndroom van Hallermann-Streiff","synonyms":["Dyscefaliesyndroom van François","Oculomandibulofaciaal syndroom"],"definition":"Syndroom van Hallermann-Streiff is een zeldzaam, genetisch syndroom dat voornamelijk gekarakteriseerd wordt door afwijkingen aan het hoofd en het gelaat, zoals een vogelachtig uiterlijk (met bekvormige neus en retrognathie), hypoplastische onderkaak, brachycefalie met een boller voorhoofd, dentale anomalieën (e.g. afwezigheid van tanden, neonatale tanden, boventallige tanden, ernstige agenesie van het permanente gebit, hypoplasie van het tandglazuur), hypotrichose, verscheidene oftalmische stoornissen (e.g. congenitaal cataract, bilaterale microftalmie, ptose, nystagmus) en atrofie van de huid (vooral rond het centrum van het gelaat en de neus), alsook teleangiëctasie en een proportioneel kleine gestalte. In sommige gevallen wordt ook intellectuele achterstand gerapporteerd."},"pt":{"name":"Síndrome Hallermann-Streiff","synonyms":["Síndrome discefálico de François","Síndrome oculomandibulofacial"]},"pl":{"name":"Zespół Hallermanna i Streiffa","synonyms":["Zespół dyscefalii Françoisa"]},"cs":{"name":"Hallermannův-Streiffův syndrom","synonyms":["Okulomandibulofaciální syndrom","Françoisův dyscefalický syndrom","Hallermann-Streiffův syndrom"]},"uk":{"name":"Синдром Галлермана-Штрайфа","synonyms":["Дисцефальний синдром Франсуа","Окуломандибулофаціальний синдром"],"definition":"Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases."},"zh":{"name":"Hallermann-Streiff综合征","synonyms":["Hallermann-Streiff综合征"]},"tr":{"name":"Hallermann-Streiff sendromu","synonyms":["François disefalik sendromu","Okülomandibulofasiyal sendrom"]}},"xrefs":[{"source":"OMIM","code":"234100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1950939139"},{"source":"MONDO","code":"0009318","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018522","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"288","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2109,"name":"Severe Hallermann-Streiff syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98650,"name":"Craniofacial anomaly with cataract","classifications":[156,189]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CHD6","name":"chromodomain helicase DNA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34021162[PMID]","hgnc":"19057","ensembl":"ENSG00000124177","omim":"616114","loci":["20q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"10388418[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10388418[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Japan","status":"Validated","source":"2092586[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000896","label":"Rib exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","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:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003363","label":"Abdominal situs inversus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","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:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null}]}}