... Common signs and symptoms of Myhre syndrome include short stature, skeletal abnormalities, limited joint mobility, characteristic facial features, ... parent. LAPS syndrome Laryngotracheal stenosis, arthropathy, prognathism, and short stature ... Genetic Testing Registry: Myhre syndrome Myhre syndrome National ...

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial ... time, and most affected children and adults have mild to moderate intellectual disability.Most affected woman have ...

Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the ...

... ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal ... with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness ...

... immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. People ... osseous dysplasia do not survive past childhood. In mild cases, people with Schimke immuno-osseous dysplasia can ...

Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to ... of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of ...

... bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna ... limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible). The ...

... with anauxetic dysplasia, a disorder characterized by severe short stature (dwarfism) and other skeletal abnormalities. The RMRP gene ... dysplasia without hypotrichosis. This condition is characterized by short stature and skeletal abnormalities that are usually less severe ...

... to be milder.All people with hypochondroplasia have short stature. The adult height for men with this condition ... a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but ...

... can occur in Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival ... a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects), fragile X syndrome (a condition ...