Total 30 clinical symptoms reported for Fucosidosis
Abnormal facial shape |
An abnormal morphology (form) of the face or its components.
Synonyms:Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies |
Very frequent |
Anterior beaking of lumbar vertebrae |
Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
Synonyms:Anterior tongue-like protrusion of lumbar vertebral bodies |
Very frequent |
Brachycephaly |
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Synonyms:Short and broad skull |
Very frequent |
Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Very frequent |
Dysostosis multiplex |
This information is currently in development.
|
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Generalized hyperkeratosis |
Synonyms:Hyperkeratosis, generalized |
Very frequent |
Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
Hyperhidrosis |
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Synonyms:Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased |
Very frequent |
Hypothyroidism |
Deficiency of thyroid hormone.
Synonyms:Low T4; Underactive thyroid |
Very frequent |
Intellectual disability, severe |
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation |
Very frequent |
Kyphosis |
Exaggerated anterior convexity of the thoracic vertebral column.
Synonyms:Gibbus deformity; Hunched back; Hyperkyphosis; Round back |
Very frequent |
Lipoatrophy |
Localized loss of fat tissue.
Synonyms:Atrophy of fat; Loss of fat tissue in localized area |
Very frequent |
Prominent forehead |
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Synonyms:Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead |
Very frequent |