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"

12 matching diseasesClear search ×

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

Marbach-Rustad progeroid syndrome · LEMD2-associated nuclear envelopathy with early progeroid appearance

ORPHA:659873

Atypical Werner syndrome

Atypical progeroid syndrome

ORPHA:79474

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

ORPHA:2962

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

ORPHA:85321

Fontaine progeroid syndrome

ORPHA:697101

Genetic progeroid syndrome

ORPHA:363245

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Progeroid syndrome

ORPHA:139033

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

ORPHA:2963

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

ORPHA:49827

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455