Rare Disease Library

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

L1 syndrome

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

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

Lynch syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

Mietens syndrome

Intellectual disability, Mietens-Weber type

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

WT limb-blood syndrome

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome