Rare Disease Library

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Familial caudal dysgenesis

Rudd-Klimek syndrome

Hunter-Carpenter-McDonald syndrome

Hunter-McAlpine syndrome

Hurler syndrome

Hurler disease · MPS1H

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Night blindness-skeletal anomalies-dysmorphism syndrome

Hunter-Thompson-Reed syndrome

Ramsay Hunt syndrome

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

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Rudiger syndrome

Tolosa-Hunt syndrome

Painful ophthalmoplegia

Weismann-Netter syndrome

Toxopachyosteose diaphysaire tibio-peroniere · Anterior bowing of legs with dwarfism