... in their family. Macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies Short stature, characteristic facies, macrodontia, ...

... is a disorder of bone development that causes short stature with a particularly short torso and short arms ... body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals typically ...

Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" ... symptoms of metatropic dysplasia can vary from relatively mild to life-threatening. In the most severe cases, ...

... may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) ... Mental retardation with hypoplastic fifth fingernails and toenails Short stature-onychodysplasia Genetic Testing Registry: Coffin-Siris syndrome Coffin- ...

... inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with ... time.All people with Peters plus syndrome have short stature, which is evident before birth. The height of ...

... is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair ( ... cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the ...

... 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 ...