agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
MeSH: C538055ORPHA: 83617
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome, sourced from HPO and Orphanet clinical annotations.
Decreased total B cell countCleft palateMicrocephalyMicrognathiaLow-set earsUnderdeveloped nasal alaeChoanal stenosisBlepharophimosisParakeratosisSeborrheic dermatitisArachnodactylyGlobal developmental delayFailure to thriveRespiratory distressDecreased circulating total IgMCoronal craniosynostosisPostnatal growth retardationGastrostomy tube feeding in infancyEpidermal acanthosisSuperficial dermal perivascular inflammatory infiltrateInguinal herniaCryptorchidismMicropenisHydronephrosisNarrow mouthBrachyturricephalyRetrognathiaEpicanthusHigh foreheadWide nasal bridgeDownslanted palpebral fissuresThin ribsLong claviclesSingle transverse palmar creaseEczematoid dermatitisPruritusCholelithiasisAbsent speechIntrauterine growth retardationOverlapping toePyloric stenosisPulmonary hypoplasiaCoarse hairHepatomegalyDiffuse cerebral atrophyPancreatic hypoplasiaFused cervical vertebraeFlat foreheadCleft vertebral archBiliary hyperplasiaContracture of the distal interphalangeal joint of the fingersPerimembranous ventricular septal defectBrain atrophy
Classification & Codes
MeSH Code
C538055Orphanet Code
ORPHA:83617agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
| MeSH | C538055 |
| Orphanet | ORPHA:83617 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO