Rare Disease Library

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Cardiospondylocarpofacial syndrome

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

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome