Total 65 clinical symptoms reported for Autosomal recessive multiple pterygium syndrome
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 |
Antecubital pterygium |
Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.
Synonyms:Pterygium cubitale; Webbed elbow |
Very frequent |
Axillary pterygium |
Presence of a cutaneous membrane (flap) in the armpit.
Synonyms:Axillary pterygia |
Very frequent |
Finger syndactyly |
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as 'Symphalangism'.
Synonyms:Partial syndactyly |
Very frequent |
Limitation of joint mobility |
A reduction in the freedom of movement of one or more joints.
Synonyms:Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion |
Very frequent |
Multiple pterygia |
This section is currently in development.
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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 |
Popliteal pterygium |
A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
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Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
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Very frequent |
Symphalangism affecting the phalanges of the hand |
Fusion of two or more phalangeal bones of the hand.
Synonyms:Fused finger bones of the hand; Synostosis involving phalanges of the hand |
Very frequent |
Webbed neck |
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Synonyms:Neck webbing; Pterygium colli; Webbed neck |
Very frequent |