Rare Disease Library

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Kenny-Caffey syndrome

Kenny syndrome

KID syndrome

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

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

W syndrome

Pallister-W syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

Wells syndrome

Eosinophilic cellulitis