Acromesomelic Dysplasia
Acromesomelic dysplasia, Hunter–Thompson type is a very rare, inherited bone growth disorder. It mainly affects the arms and legs. Children are born with short limbs, and their hands and feet are ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Acromesomelic Dysplasia (AMD)
Acromesomelic dysplasia (AMD) is a very rare, inherited bone growth disorder. It causes short height and short limbs. The middle parts of the limbs (forearms and lower legs) and the far ends (hands ...
Acromesomelic Dwarfism
Acromesomelic dwarfism is a group of rare genetic bone growth conditions where the middle parts of the arms and legs (forearms and lower legs) and the ends of the limbs (hands and feet) are much ...
Fibular Hypoplasia and Complex Brachydactyly
Fibular hypoplasia and complex brachydactyly is a very rare, inherited bone-growth disorder. Babies are born with an under-developed fibula (the long “outer” bone of the lower leg) and unusually ...
Du Pan Syndrome
Du Pan syndrome is a very rare genetic condition that mainly affects how the bones of the limbs grow. The lower legs, hands, and feet are the most affected. A hallmark sign is a small or absent ...
Langer–Saldino Achondrogenesis (Achondrogenesis Type II)
Langer–Saldino achondrogenesis is a very rare and very severe bone growth disorder in babies. Doctors also call it achondrogenesis type II. It happens because the body cannot make type II collagen in ...
Grebe Chondrodysplasia
Grebe chondrodysplasia is a very rare genetic bone and cartilage growth disorder. It mainly affects the arms and legs. The bones of the hands and feet are the most affected. The lower arms and lower ...
Maroteaux Type Dysplasia
Maroteaux type dysplasia (AMDM) is a genetic bone growth condition where the long bones do not lengthen normally at their growth plates. The most affected regions are the middle segments (forearm and ...
Acromesomelic Dysplasia (AMD)
Acromesomelic dysplasia is a very rare genetic bone growth condition. It mainly makes the middle parts of the arms and legs (the forearms and lower legs) and the end parts (hands and feet) short. ...
Toriello–Carey Syndrome
Toriello–Carey syndrome is a rare condition present from birth. It affects many parts of the body. Most children have a small lower jaw and a cleft palate (this set of features is also called the ...
Acromelic Frontonasal Dysostosis (AFND)
Acromelic frontonasal dysostosis (AFND) is a very rare genetic condition. It affects the face (especially the middle of the face and nose), the brain in some children, and the limbs—most often the ...
Acromelanosis
Acromelanosis is a rare skin condition. It causes extra brown or dark-gray color (pigment) on the skin of the fingers and toes. Doctors say “acral” for the far ends of the limbs (hands and feet). In ...
Acromegaly
Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any ...
Acromegaloid Facial Appearance (AFA) Syndrome
Acromegaloid facial appearance (AFA) syndrome is a very rare, congenital (present from birth) pattern of facial and body features. The face looks “acromegaloid,” which means it looks similar to ...
Hopf Disease
Hopf disease” refers to Acrokeratosis verruciformis of Hopf (AKV)—a rare, inherited skin disorder first described by Dr. Gustav Hopf in 1931. In plain English, it is a lifelong condition where small, ...
Acrokeratosis Verruciformis
Acrokeratosis verruciformis (often called acrokeratosis verruciformis of Hopf) is a rare, inherited skin disease. It causes many small, rough, flat-topped bumps (papules) that look like tiny warts. ...
Gottron Syndrome
Gottron syndrome is a very rare condition present from birth or early childhood. Doctors also call it acrogeria, Gottron type. “Acro-” means the hands and feet. “-geria” means old age. So the name ...
Acrometageria
Acrometageria is a very rare condition that makes the skin and soft tissues—mainly on the hands, feet, and face—look older than they should. The skin becomes thin and fragile. Veins may show through. ...
Acrogeria
Acrogeria is a very rare skin condition. It makes the skin on the hands and feet look old very early in life. The skin becomes very thin. The veins show clearly under the skin. The fingers and toes ...
Naguib–Richieri–Costa Syndrome
Naguib–Richieri–Costa syndrome is an extremely rare genetic birth condition. Babies are born with a group of changes that affect the face and skull, the genitals (mostly in boys), and the hands and ...
