Rare Disease Library

King-Denborough syndrome

Koussef-Nichols syndrome

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

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

Kousseff syndrome

Sacral meningocele-conotruncal heart defects syndrome

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis