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 ×

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

ORPHA:1519

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Frontofacionasal dysplasia

Gollop syndrome

ORPHA:1791

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

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

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479

SIX2-related frontonasal dysplasia

SIX2-related FND

ORPHA:488437