eyes slope downward

心雑音, 痙攣, 発達の遅れ, 足足の筋肉のけいれん

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000. 

いくつかの関節の痛み, 増加関節の動き, 股関節脱臼, 頻繁に共同転位

変形の頭蓋骨, 発達の遅れ, 皮膚色素沈着の増加, 顔変形

Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. 

下方斜め目, 低身長, 広く間隔目, 発達の遅れ

発達の遅れ, 睾丸が陰嚢に感じていません, 関節の皮膚のえくぼ, 顔変形

Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. 

は体重が増え, 脚の長さの不一致, 腕の長さの不一致, 非対称ボディ

ビジョンの問題, 低身長, 失明, 歯科の問題

The Hallermann-Streiff syndrome is a disorder that effects the body's stature, head structure and hair growth. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. 

尿中の血液, 異常爪, 発達の遅れ, 顔変形

In its hereditary form, it can be caused by a deficiency in the enzyme UMPS, a bifunctional protein that includes the enzyme activities of orotate phosphoribosyltransferase and orotidine 5'-phosphate decarboxylase. 

肘の変形, 限られた腕の動き, 顔変形

Nager syndrome (or acrofacial dysostosis) is an extremely rare congenital defect that has only had around 90 documented cases to date (02/06/07). Only 25 or so of these people survive. With several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney and/or stomach reflux, hammer toes, shortened soft palate, petite, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow. 

まぶたの変形, 小顎症, 耳の変形, 難聴

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births.