Neri disease is a rare syndrome characterized by specific physical and health features observed in affected individuals.
Key Characteristics of Neri Disease
Based on the provided reference, Neri disease is defined by the following key features:
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Postnatal Short Stature: Individuals with Neri disease experience stunted growth after birth, resulting in a short stature compared to their peers.
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Cardiac Defects: Heart abnormalities are common, including:
- Atrial Septal Defect (ASD): A hole in the wall between the two upper chambers of the heart.
- Pulmonic Stenosis: Narrowing of the pulmonary valve, which regulates blood flow from the heart to the lungs.
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Craniofacial Anomalies: Distinctive facial features similar to Noonan Syndrome are present, although the exact features are not detailed in the reference.
Summary Table
| Feature | Description |
|---|---|
| Postnatal Short Stature | Reduced growth rate after birth leading to short height. |
| Cardiac Defects | Heart abnormalities such as Atrial Septal Defect and Pulmonic Stenosis. |
| Craniofacial Anomalies | Facial features resembling those seen in Noonan Syndrome. |
Comparison to Noonan Syndrome
Although facial features in Neri disease are similar to Noonan syndrome, Neri disease is considered a distinct syndrome. It’s important to seek proper diagnosis by a medical professional to differentiate these conditions.
