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"

3 matching diseasesClear search ×

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

ORPHA:1521