{"orpha":83617,"name":"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83617/","orphanet_url":"https://www.orpha.net/en/disease/detail/83617","names":{"fr":{"name":"Syndrome d'agammaglobulinémie-microcéphalie-craniosténose-dermatite sévère","definition":"Agammaglobulinémie syndromique rare caractérisée par une déplétion profonde des lymphocytes B (avec un nombre normal de lymphocytes T) entraînant une agammaglobulinémie, associée à un retard de développement sévère, une microcéphalie, une craniosténose, une fente palatine, une atrésie choanale, un blépharophimosis et une dermatite sévère. Parmi les autres signes rapportés figurent des contractures des articulations distales, des anomalies rénales/génito-urinaires et une légère atrophie cérébrale, entre autres."},"de":{"name":"Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom","definition":"Eine syndromale Agammaglobulinämie, die durch eine tiefgreifende Depletion der B-Zellen (bei normalen T-Zellzahlen) gekennzeichnet ist und zu einer Agammaglobulinämie führt, die mit einer schweren Entwicklungsverzögerung, Mikrozephalie, Kraniosynostose, Gaumenspalte, Verengung der Choanen, Blepharophimose und schwerer Dermatitis einhergeht. Zu den weiteren berichteten Merkmalen gehören u. a. distale Gelenkkontrakturen, Nieren- und Harnwegsanomalien sowie eine leichte zerebrale Atrophie."},"es":{"name":"Síndrome de agammaglobulinemia-microcefalia-craneosinostosis-dermatitis grave","definition":"Es una agammaglobulinemia sindrómica poco frecuente caracterizada por una grave disminución de células B (con recuentos normales de células T), resultando en agammaglobulinemia, asociada a un retraso grave del desarrollo psicomotor, microcefalia, craneosinostosis, paladar hendido, estenosis de coanas, blefarofimosis y dermatitis grave. Otras características adicionales descritas incluyen contracturas articulares distales, anomalías renales/genitourinarias y atrofia cerebral leve, entre otras."},"it":{"name":"Sindrome agammaglobulinemia-microcefalia-craniosinostosi-dermatite grave","definition":"Si tratta di un'agammaglobulinemia sindromica rara, caratterizzata da grave deplezione delle cellule B (con un numero normale di cellule T), che esita nell'agammaglobulinemia associata ad un grave ritardo dello sviluppo, microcefalia, craniosinostosi, palatoschisi, restringimento delle coane, blefarofimosi e dermatite grave. I pazienti possono presentare anche contratture delle articolazioni distali, anomalie renali/genitourinarie e atrofia cerebrale lieve."},"nl":{"name":"Agammaglobulinemie - microcefalie - craniosynostose - ernstige dermatitis-syndroom","definition":"Een zeldzame syndromale agammaglobulinemie, gekarakteriseerd door zeer ernstige depletie van B-cellen (met normaal aantal T-cellen) die resulteert in agammaglobulinemie, geassocieerd met ernstige ontwikkelingsachterstand, microcefalie, craniosynostose, gespleten verhemelte, vernauwing van choanen, blefarofimose, en ernstige dermatitis. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer distale gewrichtscontracturen, renale/urogenitale anomalieën, en milde cerebrale atrofie."},"pt":{"name":"Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave"},"pl":{"name":"Zespół agammaglobulinemii, mikrocefalii, kraniosynostozy i ciężkiego zapalenia skóry"},"cs":{"name":"Syndrom zahrnující agamaglobulinémii, mikrocefalii, kraniosynostózu a těžkou dermatitidu"},"uk":{"name":"Синдром агаммаглобулінемії-мікроцефалії-краніосиностозу-тяжкого дерматиту","definition":"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others."},"zh":{"name":"无丙种球蛋白血症-小头畸形-颅缝早闭-重型皮炎综合征"},"tr":{"name":"Agamaglobulinemi-mikrosefali-kraniyosinostoz-ağır dermatit sendromu"}},"xrefs":[{"source":"OMIM","code":"610483","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1531821301"},{"source":"MONDO","code":"0012508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302680","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10011","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":229720,"name":"Syndromic agammaglobulinemia","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16691627[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16691627[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-29","source":"16691627[PMID]","terms":[{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006560","label":"Biliary hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000244","label":"Brachyturricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004616","label":"Cleft vertebral arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009697","label":"Contracture of the distal interphalangeal joint of the fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004425","label":"Flat forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000890","label":"Long clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002594","label":"Pancreatic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011682","label":"Perimembranous ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005365","label":"Severe B lymphocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}