The clinical features of KIDAR include:
Skin changes
- Dry, scaly, thickened skin
- Generalized reddening of the skin
- Thickened skin over the palms and soles
- Sparse hair, with or without a wiry texture
- Thick yellow scales on scalp
- Sparse or absent eyebrows
- Excessive creases over palms and soles (in some individuals)
- Excessive sweating (reported in 1 patient)
Liver problems (in some patients)
- Liver disease(s), which may include abnormal liver function detected on laboratory tests
Gut-related problems (in some individuals)
- Intestinal problem(s), which may include diarrhea
- Faltering growth (weight or rate of weight gain that is much lower than that of other children of similar age)
Neurological problems
- Global developmental delay (delay in all areas of development, including motor, speech, cognitive, and social)
- Intellectual disability
- Over-responsive deep tendon reflexes (DTR) on neurological examination (in some patients)
- Hearing loss
- Light sensitivity (in some individuals)
- Structural brain abnormalities detected on magnetic resonance imaging (MRI) (in some individuals):
- Atrophy of the cerebral cortex (the outermost layer of the brain responsible for thinking and processing information form the five senses)
- Thin corpus callosum, the C-shaped bundle of nerves found under the cerebral cortex of the brain that allows communication between the two hemispheres of the brain
Facial differences (variable, mild; in some individuals)
- Prominent, protruding forehead
- Hairline recession
- Outward turning of the eyelid
The following features were observed in a case report of an adult patient with KIDAR:
- Scarring of the cornea of the eye
- Recession of the gingiva
- Fissured tongue
- Tooth loss and poor calcification of teeth
Analyzing the blood of the patient in the laboratory may reveal the following changes:
- Low serum copper
- Low ceruloplasmin levels
- Low plasma zinc
- Elevated very-long-chain fatty acids (in some individuals)
- Altered liver function tests (liver profile) (in some individuals):
- High alanine aminotransferase
- High gamma-glutamyl transferase
- High alkaline phosphatase
- High bile acids
- Low plasma albumin
- Complete or full blood count (FBC or CBC) may show changes (in some individuals):
- Low platelets (episodic or persistent)
- Anemia