Rare Disease Library

Abruzzo-Erickson syndrome

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

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss 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-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Dysmorphism-cleft palate-loose skin syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Macular coloboma-cleft palate-hallux valgus syndrome

OBSOLETE: Lymphedema-cleft palate syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Renal coloboma syndrome

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

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Syndromic eyelid coloboma

Syndromic palpebral coloboma

Syngnathia-cleft palate syndrome