Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

17 matching diseasesClear search ×

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

ORPHA:508476

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Cleft hard palate

ORPHA:101023

Cleft lip and alveolus

ORPHA:141291

Cleft lip with or without cleft palate

Tessier cleft number 1,2

ORPHA:1991

Cleft lip/palate-ectodermal dysplasia syndrome

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

ORPHA:3253

Cleft palate

ORPHA:2014

Cleft velum

Cleft velum palatinum · Cleft soft palate

ORPHA:99772

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

Isolated cleft lip

ORPHA:199302

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

Soft and hard cleft palate

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

ORPHA:664372

Submucosal cleft palate

ORPHA:155878

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

X-linked cleft palate and ankyloglossia

ORPHA:324601