{"orpha":592574,"name":"Menke-Hennekam syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-592574/","orphanet_url":"https://www.orpha.net/en/disease/detail/592574","names":{"fr":{"name":"Syndrome de Menke-Hennekam","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle variable, un retard de développement, des troubles du spectre de l'autisme, une petite taille et une microcéphalie. Les autres manifestations sont variables et comprennent des difficultés à s'alimenter, des déficiences visuelles et auditives, des infections récurrentes des voies aériennes supérieures et une épilepsie. Les malformations rapportées sont une cryptorchidie et des anomalies cérébrales. On observe une dysmorphie faciale à type de fentes palpébrales courtes et inclinées vers le haut, de ptosis, de télécanthus, de pont nasal déprimé, de nez court, de narines antéversées, de columelle courte et de long philtrum."},"de":{"name":"Menke-Hennekam-Syndrom","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch variable Intelligenzminderung, Entwicklungsverzögerung, autistisches Verhalten, Kleinwuchs und Mikrozephalie gekennzeichnet ist. Weitere variable Erscheinungsformen sind Fütterungsprobleme, Seh- und Hörstörungen, wiederkehrende Infektionen der oberen Atemwege und Epilepsie. Berichtet wird über Fehlbildungen wie Kryptorchismus und zerebrale Anomalien. Zu den Gesichtsdysmorphien gehören kurze und aufsteigende Lidachsen, Ptosis, Telekanthus, ein vertiefter Nasenrücken, eine kurze Nase, antevertierte Nasenlöcher, eine kurze Columella und ein langes Philtrum."},"es":{"name":"Síndrome de Menke-Hennekam","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples genético poco frecuente caracterizado por discapacidad intelectual variable, retraso del desarrollo, comportamiento autista, talla baja y microcefalia. Otras manifestaciones variables adicionales incluyen problemas de alimentación, deficiencias visuales y auditivas, infecciones recurrentes de las vías respiratorias superiores y epilepsia. Las malformaciones descritas son criptorquidia y anomalías cerebrales. Los rasgos faciales dismórficos incluyen fisuras palpebrales cortas y ascendentes, ptosis, telecanto, cresta nasal deprimida, nariz corta, narinas antevertidas, columela corta y filtrum largo."},"it":{"name":"Sindrome di Menke-Hennekam"},"nl":{"name":"Syndroom van Menke-Hennekam","definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekenmerkt door variabele intellectuele achterstand, ontwikkelingsachterstand, autistisch gedrag, kleine gestalte, en microcefalie. Bijkomende variabele manifestaties zijn onder meer voedingsproblemen, verlies van gezichtsvermogen en gehoorverlies, recidiverende infecties van bovenste luchtwegen, en epilepsie. Gerapporteerde malformaties zijn cryptorchisme en cerebrale anomalieën. Dysmorfe gelaatskenmerken zijn onder meer korte en schuin naar boven hellende ooglidspleten, ptosis, telecanthus, ingezakte neusrug, korte neus, anteversie van neusgaten, korte columella, en lang filtrum."},"pt":{"name":"Síndrome de Menke-Hennekam","definition":"Síndrome dismórfica/anomalias congénitas múltiplas genética rara caracterizada por perturbação do desenvolvimento intelectual variável, atraso no desenvolvimento, perturbação do comportamento do espectro autista, baixa estatura e microcefalia. Manifestações variáveis &#8203;&#8203;adicionais incluem problemas alimentares, défices visuais e auditivos, infeções recorrentes das vias aéreas superiores e epilepsia. As malformações relatadas são criptorquidia e anomalias cerebrais. As características faciais dismórficas incluem fissuras palpebrais curtas e inclinadas, ptose, telecanto, crista nasal deprimida, nariz curto, narinas antevertidas, columela curta e filtro longo."},"pl":{"name":"Zespół Menkego i Hennekama","definition":"Rzadko występujący, genetycznie uwarunkowany zespół mnogich wad wrodzonych/zespół dysmorficzny, charakteryzujący się niepełnosprawnością intelektualną o zmiennym stopniu nasilenia, opóźnieniem rozwoju, zachowaniami autystycznymi, niskim wzrostem i małogłowiem. Dodatkowe, zmiennie występujące objawy obejmują problemy z karmieniem, zaburzenia wzroku i słuchu, nawracające infekcje górnych dróg oddechowych i padaczkę. Zgłaszane wady rozwojowe to wnętrostwo i wady mózgu. Dysmorficzne cechy twarzy obejmują krótkie i skośno-górnie ustawione szpary powiekowe, opadanie powiek, zmarszczkę nakątną, niski grzbiet nosa, krótki nos, przodopochylenie nozdrzy, krótką kolumienkę i długą rynienkę podnosową."},"cs":{"name":"Menkeho-Hennekamův syndrom"},"uk":{"name":"Синдром Менке-Хеннекама","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum."},"zh":{"name":"Menke-Hennekam syndrome"},"tr":{"name":"Menke-Hennekam syndrome"}},"xrefs":[{"source":"OMIM","code":"618332","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618333","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681632","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":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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27311832[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"27311832[PMID]_29460469[PMID]_30892814[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-15","source":"35626936[PMID]_38553851[PMID]_34652060[PMID]","terms":[{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200006","label":"Slanting of the palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","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:0012725","label":"Cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Very rare (<4-1%)","criteria":null}]}}