Rare Disease Library

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Orofaciodigital syndrome type 8

OFD8 · Oral-facial-digital syndrome type 8

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Trisomy 13 syndrome

Patau syndrome

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome