Rare Disease Library

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

Acropectorovertebral dysplasia

F syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Emery-Nelson syndrome

Hand and foot deformity-flat facies syndrome

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Hao-Fountain syndrome

HAFOUS

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Karsch-Neugebauer syndrome

Split hand/split foot-nystagmus syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Poland syndrome

Poland anomaly · Poland sequence

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome