Rare Disease Library

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

Cleft lip/palate-ectodermal dysplasia syndrome

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

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome