large ears

は体重が増え, 発達の遅れ, 落ち着きのなさ, cognitive defect

Fetal alcohol syndrome or FAS is a disorder of permanent birth defects that occurs in the offspring of women who drink alcohol during pregnancy. It is unknown whether amount, frequency or timing of alcohol consumption during pregnancy causes a difference in amount of damage done to the fetus. 

低身長, 心雑音, 欠席月経, has osteoporosis

Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. It occurs in 1 out of every 2500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. 

呼吸困難, 弱点, 脚の筋肉の低下, 運動の制限です

The term Congenital Muscular Dystrophy, or CMD may refer to a number of autosomal recessive diseases with muscle weakness typically present at birth and slowly progressing. ... 

動悸, 弱点, 脚の筋肉の低下, 足足の筋肉のけいれん

Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by a wasting of the muscles (muscular dystrophy), posterior subcapsular irridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). 

腕に発疹, 足にあざ, 顔の発疹, washed out look

弱点, 筋肉のけいれん, 頻繁に排尿, bodyache

Bartter syndrome is a rare genetic disease characterized by low potassium levels (hypokalemia), decreased acidity of blood (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. 

低身長, 女性の小さな胸, 欠席月経

A chromosome abnormality reflects an abnormality of chromosome number or structure. Chromosome abnormalities usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome abnormalities.