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"

11 matching diseasesClear search ×

Syndromic ankyloblepharon filiforme adnatum

Syndromic ankyloblepharon

ORPHA:98565

Ablepharon macrostomia syndrome

AMS

ORPHA:920

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

ORPHA:99694

Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Aughton-Hufnagle syndrome

ORPHA:1074

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

ORPHA:1071

CHAND syndrome

Baughman syndrome · CHANDS

ORPHA:1401

Microblepharon-ablephara syndrome

ORPHA:98563

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

ORPHA:85275

Non-syndromic anorectal malformation

Non-syndromic ARM

ORPHA:557

Syndromic aniridia

ORPHA:98557