Total 52 clinical symptoms reported for Menkes disease
Abnormal palate morphology |
Any abnormality of the palate, i.e., of roof of the mouth.
Synonyms:Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality; Abnormality of the palate |
Very frequent |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absence or underdevelopment of the abdominal musculature.
Synonyms:Absent/small abdominal wall muscles; Absent/underdeveloped abdominal wall muscles |
Very frequent |
Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
Dry skin |
Skin characterized by the lack of natural or normal moisture.
Synonyms:Dry skin; Xerosis |
Very frequent |
Fatigue |
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Synonyms:Fatigue; Tired; Tiredness |
Very frequent |
Feeding difficulties in infancy |
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
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Very frequent |
Hernia |
This information is currently in development.
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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 |
Hypertonia |
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Synonyms:Hypertonicity; Increased muscle tone |
Very frequent |
Hypopigmentation of hair |
Synonyms:Hair hypopigmentation; Loss of hair color |
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 |
Inguinal hernia |
Protrusion of the contents of the abdominal cavity through the inguinal canal.
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Very frequent |
Intracranial hemorrhage |
Hemorrhage occurring within the skull.
Synonyms:Bleeding within the skull |
Very frequent |
Joint hyperflexibility |
Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
Synonyms:Joints move beyond expected range of motion |
Very frequent |
Microcephaly |
Head circumference below 2 standard deviations below the mean for age and gender.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference |
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 |
Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
Sparse hair |
Reduced density of hairs.
Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth |
Very frequent |
Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Very frequent |
Umbilical hernia |
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Synonyms:Umbilical hernias |
Very frequent |
Vascular dilatation |
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Synonyms:Aneurysmal dilatation; Wider than typical opening or gap |
Very frequent |
Woolly hair |
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Synonyms:Kinked hair; Wooly hair |
Very frequent |