Total 63 clinical symptoms reported for Ehlers-Danlos syndrome, kyphoscoliotic type 1
| Atypical scarring of skin |
Atypically scarred skin .
Synonyms:Atypical scarring; Atypical scarring of skin |
Very frequent |
| Bruising susceptibility |
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Synonyms:Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising |
Very frequent |
| Fragile skin |
Skin that splits easily with minimal injury.
Synonyms:Fragile skin; Skin fragility |
Very frequent |
| Hyperextensible skin |
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Synonyms:Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin |
Very frequent |
| Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
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 |
| Neonatal hypotonia |
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Synonyms:Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset |
Very frequent |
| Osteopenia |
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Synonyms:Generalized osteopenia |
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 |
| Thoracic kyphoscoliosis |
This section is currently in development.
|
Very frequent |