Rare Disease Library

Kapur-Toriello syndrome

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

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

McPherson-Clemens syndrome

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

Donnai-Barrow syndrome

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

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome

Verloove Vanhorick-Brubakk syndrome

Cleft lip-limb and heart malformations syndrome