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"

7 matching diseasesClear search ×

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

ORPHA:1317

Bainbridge-Ropers syndrome

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

ORPHA:352577

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

ORPHA:79507

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

ORPHA:3433

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

ORPHA:3268

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

ORPHA:466926