Total 40 clinical symptoms reported for Classic homocystinuria
Arachnodactyly |
Abnormally long and slender fingers ('spider fingers').
Synonyms:Long slender fingers; Long, slender fingers; Spider fingers |
Very frequent |
Dental crowding |
Changes in alignment of teeth in the dental arch
Synonyms:Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth |
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 |
Ectopia lentis |
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Synonyms:Abnormality of lens position; Lens dislocation |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
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 |
Recurrent fractures |
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Synonyms:Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures |
Very frequent |