Rare Disease Library

22q11.2 deletion syndrome

22q11DS · CATCH 22

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality

Cardiofaciocutaneous syndrome

CFC syndrome

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Femoral-facial syndrome

FFS · FHUFS

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Orofacial clefting syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Velo-facial-skeletal syndrome

VEXAS syndrome