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.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |