is a rare chromosomal condition affecting development, growth, and overall health.

is a rare chromosome disorder caused by missing material on chromosome 22.

is a genetic condition causing developmental delay, limited speech, low muscle tone.

is a rare genetic condition caused by missing part of chromosome 5.

is a rare chromosome disorder that affects development and health.

is a rare genetic condition caused by missing chromosome 9q22.3 material.

is a genetic condition affecting females, often causing short stature and infertility.

is a bone disorder where one bone develops abnormal scar-like tissue.

is a mental health condition causing lasting changes in mood and functioning.

is a rare, painful corneal ulcer that can threaten vision.

is a rare, painful corneal ulcer that can threaten vision.

is severe obesity that can seriously affect health and daily life.

is an advanced cataract with a milky, liquefied lens center.

is a rare condition causing forehead bone thickening and hormone-related symptoms.

is a rare genetic condition affecting development, vision, and learning.

is a rare birth defect affecting the optic nerve and vision.

is a skin cancer subtype that can grow deeply into nearby tissue.

is a condition where the body and brain become reliant on morphine.

is a rare autoimmune nerve disorder causing muscle twitching, insomnia, and confusion.

is a rare genetic condition where some cells have only paternal chromosomes.

is a rare genetic condition causing patchy café-au-lait spots and freckles.

is a genetic condition where some cells are missing an X chromosome.

is a genetic condition causing patchy skin changes and nerve tumors.

is a genetic condition causing multiple nerve tumors, often in one area.