Rare Disease Library

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Acropectorovertebral dysplasia

F syndrome

Aniridia-absent patella syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Dincsoy-Salih-Patel syndrome

Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Foveal hypoplasia-presenile cataract syndrome

O'Donnell-Pappas syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Gray platelet syndrome

Alpha storage pool deficiency · GPS

H syndrome

Hall-Riggs syndrome

HELLP syndrome

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

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Keutel syndrome

Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Mitchell Syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome