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"

13 matching diseasesClear search ×

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

ORPHA:2888

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

ORPHA:1974

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

ORPHA:1388

Genetic syndromic Pierre Robin syndrome

ORPHA:363294

Isolated Pierre Robin sequence

PRS

ORPHA:718

OBSOLETE: Syndrome associated with Pierre Robin syndrome

OBSOLETE: Syndrome associated with Pierre Robin sequence

ORPHA:138063

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

ORPHA:140997

Pierre Robin syndrome associated with a chromosomal anomaly

Pierre Robin sequence associated with a chromosomal anomaly

ORPHA:138047

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

ORPHA:3102

Robin sequence-oligodactyly syndrome

Pierre Robin sequence-oligodactyly syndrome

ORPHA:3104

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

ORPHA:2886

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome

ORPHA:3450