Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
| 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.[1]
Signs and symptoms
[edit]People with this condition often show the following symptoms:[2]
- Hearing difficulties
- Hypoglycemia
- Intellectual disabilities
- Fetal growth delays
- Severely short height
Epidemiology
[edit]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.[3]
References
[edit]- ^ "Dwarfism Low-Birth-Weight Type with Unresponsiveness to Growth Hormone symptoms & causes". FDNA Telehealth. Retrieved 2022-06-12.
- ^ "Dwarfism, low-birth-weight type with unresponsiveness to growth hormone | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-04-14. Archived from the original on 2021-04-14. Retrieved 2022-06-12.
- ^ "OMIM Entry - 223500 - DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE". omim.org. Retrieved 2022-06-12.
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