{"orpha":2135,"name":"Cutaneous mastocytosis-deafness-microtia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cutaneous mastocytosis-hearing loss-microtia syndrome","Mastocytosis-short stature-deafness syndrome","Mastocytosis-short stature-hearing loss syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2135/","orphanet_url":"https://www.orpha.net/en/disease/detail/2135","names":{"fr":{"name":"Mastocytose cutanée-surdité-microtia syndrome","synonyms":["Syndrome de mastocytose-petite taille-surdité"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une mastocytose cutanée, une microcéphalie, une microtie et/ou une perte auditive, une hypotonie et des anomalies squelettiques (par exemple clinodactylie, camptodactylie, scoliose). Les autres caractéristiques communes sont une petite taille, une déficience et des difficultés intellectuelles. La dysmorphie faciale associe des fentes palpébrales orientées vers le haut, un palais ogival et une micrognathie. Des convulsions et un raccourcissement asymétrique des pieds ont rarement été rapportés."},"de":{"name":"Kutane Mastozytose-Schwerhörigkeit-Mikrotie-Syndrom","synonyms":["Hennekam-Beemer-Syndrom","Kutane Mastozytose-Hörverlust-Mikrotie-Syndrom","Mastozytose-Kleinwuchs-Taubheit-Syndrom"],"definition":"Ein kongenitales Fehlbildungssyndrom, das durch kutane Mastozytose, Mikrozephalie, Mikrotie und/oder Schwerhörigkeit, Hypotonie und Skelettanomalien (z. B. Klinodaktylie, Kamptodaktylie, Skoliose) gekennzeichnet ist. Weitere häufige Merkmale sind Kleinwuchs, Intelligenzminderung und Schwierigkeiten. Zu den Gesichtsdysmorphien können aufsteigende Lidachsen, ein stark gewölbter Gaumen und Mikrognathie gehören. Selten wurde über Krampfanfälle und asymmetrisch kleine Füße berichtet."},"es":{"name":"Síndrome de mastocitosis cutánea-sordera-microtia","synonyms":["Síndrome de mastocitosis cutánea-hipoacusia-microtia","Síndrome de mastocitosis-talla baja-hipoacusia","Síndrome de mastocitosis-talla baja-sordera"],"definition":"Es un síndrome de múltiples anomalías congénitas poco frecuentes caracterizado por mastocitosis cutánea, microcefalia, microtia y/o pérdida auditiva, hipotonía y anomalías esqueléticas (p. ej., clinodactilia, camptodactilia, escoliosis). Otros hallazgos adicionales frecuentes son talla baja, discapacidad y dificultades intelectuales. La dismorfia facial puede incluir fisuras palpebrales inclinadas hacia arriba, paladar ojival y micrognatia. En algunas ocasiones, se han descrito crisis epilépticas y pies asimétricamente pequeños."},"it":{"name":"Sindrome mastocitosi cutanea-sordità-microtia","synonyms":["Mastocitosi - bassa statura - sordità","Sindrome mastocitosi-bassa statura-sordità"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da mastocitosi cutanea, microcefalia, microtia e/o sordità, ipotonia e anomalie scheletriche (ad es. clinodattilia, camptodattilia, scoliosi). Altri segni clinici comuni sono la bassa statura e la disabilità intellettiva. I dismorfismi facciali comprendono le rime palpebrali oblique verso l'alto, il palato ogivale e la micrognazia. Di rado si associa a crisi epilettiche e a una riduzione asimmetrica delle dimensioni dei piedi."},"nl":{"name":"Cutane mastocytose - doofheid - microtie-syndroom","synonyms":["Cutane mastocytose - gehoorverlies - microtie-syndroom","Mastocytose - kleine gestalte - doofheid-syndroom","Mastocytose - kleine gestalte - gehoorverlies-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door cutane mastocytose, microcefalie, microtie en/of gehoorverlies, hypotonie en skeletanomalieën (e.g. clinodactylie, camptodactylie, scoliose). Bijkomende gangbare kenmerken zijn kleine gestalte, en intellectuele achterstand en moeilijkheden. Faciale dysmorfie omvat mogelijk schuin opwaarts hellende ooglidspleten, hoog gebogen verhemelte en micrognathie. In zeldzame gevallen werden insulten en asymmetrisch kleine voeten gerapporteerd."},"pt":{"name":"Síndrome Hennekam-Beemer","synonyms":["Mastocitose-baixa estatura-surdez"]},"pl":{"name":"Zespół mastycytozy skórnej, niedosłuchu i mikrocji","synonyms":["Mastocytoza - niski wzrost - utrata słuchu"]},"cs":{"name":"Hennekamův-Beemerův syndrom","synonyms":["Syndrom zahrnující mastocytózu, malý vzrůst a ztrátu sluchu","Hennekam-Beemerův syndrom"]},"uk":{"name":"Синдром Хеннекама-Бімера","synonyms":["Синдром мастоцитозу-низького зросту-глухоти","Синдром мастоцитозу-низького зросту-втрати слуху"],"definition":"A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported."},"zh":{"name":"Hennekam-Beemer综合征","synonyms":["肥大细胞增生症-身材矮小-听觉丧失综合征"]},"tr":{"name":"Hennekam-Beemer sendromu","synonyms":["Mastositoz-kısa boy-sağırlık sendromu","Mastositoz-kısa boy-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"248910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302582","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19764024[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19764024[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100495","label":"Mastocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}