Rare Disease Library

Grant syndrome

H syndrome

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

HIDEA syndrome

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

IRIDA syndrome

Iron-refractory iron deficiency anemia

Isolated congenital onychodysplasia

COIF · COIF syndrome

Joubert syndrome with hepatic defect

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

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

L1 syndrome

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

Mixed connective tissue disease

MCTD · Sharp syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

N syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome

SHILCA syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

Tolosa-Hunt syndrome

Painful ophthalmoplegia

W syndrome

Pallister-W syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

Zechi-Ceide syndrome

Occipital atretic cephalocele-unusual facies-large feet syndrome