Rare Disease Library

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Donnai-Barrow syndrome

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

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Down syndrome

Trisomy 21

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

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

Hamamy syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fragile X syndrome

FRAXA syndrome · FXS

Frank-Ter Haar syndrome

Ter Haar syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Goldenhar syndrome

Facioauriculovertebral sequence

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

H syndrome

Haddad syndrome

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

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

Hall-Riggs syndrome

HANAC syndrome

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

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Harlequin syndrome

Progressive isolated segmental anhidrosis

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate 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

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome