Rare Disease Library

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Abruzzo-Erickson syndrome

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

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth 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

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

Dysmorphism-cleft palate-loose skin 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

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Hypopituitarism-micropenis-cleft lip/palate syndrome

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Kapur-Toriello syndrome

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

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

OBSOLETE: Lymphedema-cleft palate syndrome

Rapp-Hodgkin syndrome

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

Soft and hard cleft palate

Isolated cleft of the soft and hard palate · Combined form of soft and hard cleft palate

Syngnathia-cleft palate syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome