causes fragile skin, sparse hair, and abnormal nails from birth.

is a genetic condition affecting hair, teeth, nails, and sometimes sweating.

is a rare soft tissue tumor with muscle and nerve-related cells.

is a rare birth defect where the heart develops outside the chest.

is a rare eye disorder where the lens and pupil are displaced.

is an inherited eye disorder causing lens displacement, retinal disease, and myopia.

is a rare tumor that causes excess aldosterone and high blood pressure.

is a pregnancy that develops outside the uterus and needs urgent care.

is thymus tissue located in an unusual place, usually in the neck.

is a fungal hair infection where spores coat the outside.

is a congenital limb difference with split hand/foot (ectrodactyly), sometimes other features.

is a genetic condition causing split hands or feet and extra digits.

is a condition where the eyelid turns outward, exposing the inner lid.

is a serious herpes skin infection needing prompt medical treatment.

is a common eyelid rash causing itchy, red, irritated skin.

is a rare genetic condition that can affect multiple body systems.

is a rare genetic condition causing birth defects and developmental differences.

is a genetic condition caused by an extra chromosome 18.

is a rare genetic condition affecting limb, skin, and facial development.

is a group of rare genetic conditions affecting ectoderm, limbs, and face.

is a rare inherited disorder affecting development, bones, teeth, and sometimes vision.

is a rare genetic disorder causing low magnesium and intellectual disability.

is an immune reaction to eggs that can cause allergic symptoms.

describes distress when a person's orientation conflicts with their beliefs or identity.