Rare Disease Library

Verloove Vanhorick-Brubakk syndrome

Cleft lip-limb and heart malformations syndrome

Conotruncal heart malformations

Deafness-ear malformation-facial palsy syndrome

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

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Genetic syndrome with limb malformations as a major feature

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Kapur-Toriello syndrome

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

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Non-syndromic cloacal malformation

Non-syndromic limb malformation

Rare congenital non-syndromic heart malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Rare syndrome with cardiac malformations

Syndrome or malformation associated with head and neck malformations

Syndrome with limb malformations as a major feature