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"

6 matching diseasesClear search ×

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

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

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

ORPHA:391474

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360