Rare Disease Library

3MC syndrome

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

22q11.2 deletion syndrome

22q11DS · CATCH 22

Acro-renal-ocular syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Craniofrontonasal dysplasia

CFND · CFNS

Craniomicromelic syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Flat face-microstomia-ear anomaly syndrome

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

Harrod syndrome

Cranio-facio-digito-genital syndrome

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

Orofacial clefting syndrome

Radio-renal syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome