Geroderma osteodysplastica

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and...

Actinic lichen planus

Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of photo-distributed lichenoid lesions.

ALG11-CDG

ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting...