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"

10 matching diseasesClear search ×

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

ORPHA:2453

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

ORPHA:178303

Femoral-facial syndrome

FFS · FHUFS

ORPHA:1988

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

ORPHA:306542

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

Orofacial clefting syndrome

ORPHA:139039

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

ORPHA:660021

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

ORPHA:140997

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704