Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
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| Dwarfism, low-birth-weight type with unresponsiveness to growth hormone | |
|---|---|
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| Prevention | none |
| Frequency | very rare, only 2 cases have been described in medical literature |
| Deaths | - |
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone is a very rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and other anomalies. Only 2 cases have been described in medical literature.
Signs and symptoms
People with this condition often show the following symptoms:
- Hearing difficulties
- Hypoglycemia
- Intellectual disabilities
- Fetal growth delays
- Severely short height
Epidemiology
This condition has only been described in 2 brothers born to consanguineous parents. 2 of their other relatives were said to have been affected, but weren't examined themselves.