Ichthyosis-intellectual disability-dwarfism-renal impairment
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| Ichthyosis-intellectual disability-dwarfism-renal impairment | |
|---|---|
| Other names | Icthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment. |
| Specialty | Medical genetics |
| Symptoms | ichthyosis from birth, intellectual disabilities, abnormally short stature, and renal impairments |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Autosomal recessive genetic mutation |
| Differential diagnosis | ichthyosis vulgaris, isolated intellectual disability, kidney dysplasia, idiopathic short stature |
| Prevention | none |
| Frequency | very rare, only 4 cases have been described in medical literature |
Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder which consists of congenital ichthyosis, intellectual disabilities, dwarfism/short stature and renal impairment. This condition has been described only in four members of an Iranian family and was discovered in the summer of 1975.