Total 63 clinical symptoms reported for Ehlers-Danlos syndrome, musculocontractural type
Abnormal bleeding |
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Synonyms:Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis |
Very frequent |
Abnormal sternum morphology |
An anomaly of the sternum, also known as the breastbone.
Synonyms:Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies |
Very frequent |
Abnormality of the cervical spine |
Any abnormality of the cervical vertebral column.
Synonyms:Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra |
Very frequent |
Arthrogryposis multiplex congenita |
Multiple congenital contractures in different body areas.
Synonyms:Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures |
Very frequent |
Atrophic scars |
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Synonyms:Sunken or indented skin due to damage; Thin, atrophic scars |
Very frequent |
Blue sclerae |
An abnormal bluish coloration of the sclera.
Synonyms:Blue sclera; Bluish sclerae; Whites of eyes are a bluish-gray color |
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 |
Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
Decreased muscle mass |
Synonyms:Decreased muscle mass |
Very frequent |
Decreased palmar creases |
Poorly defined or shallow palmar creases.
Synonyms:Hypoplastic palmar creases; Poorly formed palmar creases; Shallow palm line; Shallow palmar creases |
Very frequent |
Delayed gross motor development |
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Synonyms:Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development |
Very frequent |
Disproportionate tall stature |
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Synonyms:Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio |
Very frequent |
Downslanted palpebral fissures |
The palpebral fissure inclination is more than two standard deviations below the mean.
Synonyms:Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted |
Very frequent |
Dysesthesia |
Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.
Synonyms:Dysaesthesia; Hyperalgesia; Hyperpathia |
Very frequent |
External ear malformation |
A malformation of the auricle of the ear.
Synonyms:External ear malformation |
Very frequent |
Generalized joint laxity |
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
Synonyms:Hypermobility of all joints |
Very frequent |
High palate |
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched |
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 |
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 |
Large fontanelles |
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Synonyms:Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles |
Very frequent |
Long philtrum |
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum |
Very frequent |
Low-set, posteriorly rotated ears |
Ears that are low-set and posteriorly rotated.
Synonyms:Low-set posteriorly rotated ears |
Very frequent |
Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
Narrow mouth |
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Synonyms:Microstomia; Narrow mouth; Small mouth; Small oral aperture |
Very frequent |
Prominent nasolabial fold |
Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
Synonyms:Deep laugh lines; Deep nasolabial crease; Deep nasolabial fold; Deep nasolabial groove; Deep smile lines; Nasolabial crease, prominent; Prominent laugh lines; Prominent nasolabial groove; Prominent smile lines |
Very frequent |
Protruding ear |
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Synonyms:Prominent ear; Prominent ears |
Very frequent |
Recurrent joint dislocation |
Dislocation of a given joint repeated times.
Synonyms:Recurrent joint dislocations |
Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
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Very frequent |
Short nose |
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose |
Very frequent |
Slender finger |
Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Synonyms:Narrow fingers; Slender finger; Slender fingers; thin fingers |
Very frequent |
Subcutaneous hemorrhage |
This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Synonyms:Bleeding below the skin |
Very frequent |
Thin upper lip vermilion |
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Synonyms:Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip |
Very frequent |