Rare Disease Library

Bamforth-Lazarus syndrome

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

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Abruzzo-Erickson syndrome

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

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic 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

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

Cleft velum

Cleft velum palatinum · Cleft soft palate

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg 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

Hyperparathyroidism-jaw tumor syndrome

HPT-JT

Hypopituitarism-micropenis-cleft lip/palate 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

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

OBSOLETE: Lymphedema-cleft palate syndrome

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Rare hypothyroidism

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

Syndrome with hypoparathyroidism

Syndromic hypothyroidism

Syngnathia-cleft palate syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome