Total 60 clinical symptoms reported for Loeys-Dietz syndrome 2
| Aortic root aneurysm |
An abnormal localized widening (dilatation) of the aortic root.
Synonyms:Bulge in wall of root of large artery that carries blood away from heart; Enlarged aortic root; Increased aortic root diameter |
Very frequent |
| Arterial tortuosity |
Abnormal tortuous (i.e., twisted) form of arteries.
|
Very frequent |
| Bifid uvula |
Uvula separated into two parts most easily seen at the tip.
Synonyms:Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida |
Very frequent |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Inguinal hernia |
Protrusion of the contents of the abdominal cavity through the inguinal canal.
|
Very frequent |
| Joint hypermobility |
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Synonyms:Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness |
Very frequent |
| Osteoporosis |
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
|
Very frequent |
| Pectus excavatum |
A defect of the chest wall characterized by a depression of the sternum, giving the chest ('pectus') a caved-in ('excavatum') appearance.
Synonyms:Funnel chest |
Very frequent |