Ohdo syndrome, specifically the SBBYS variant described in the provided reference, is a rare genetic condition characterized by a distinct set of physical features and developmental challenges presenting early in life.
Understanding Ohdo Syndrome (SBBYS Variant)
Based on the provided reference, the Ohdo syndrome, SBBYS variant, is identified by a unique facial appearance and significant issues in infancy.
Key Characteristics
The condition is primarily recognized by its distinctive features:
- Facial Appearance: Individuals with the SBBYS variant exhibit specific facial traits.
- Neurological Signs: Severe muscle weakness is present from infancy.
- Feeding Difficulties: Problems with feeding are noted shortly after birth.
Let's break down these characteristics further.
Distinctive Facial Features
A hallmark of the Ohdo syndrome, SBBYS variant, is its impact on facial structure and expression. These features include:
- Severe Blepharophimosis: A significant narrowing of the eye opening (palpebral fissure).
- Immobile, Mask-Like Face: A reduction in facial expression.
- Bulbous Nasal Tip: A rounded or enlarged tip of the nose.
- Small Mouth: The mouth appears smaller than average.
- Thin Upper Lip: The upper lip has reduced volume or definition.
These features contribute to the characteristic appearance associated with the syndrome.
Presentation in Infancy
The reference highlights that the condition becomes apparent shortly after birth due to key early symptoms:
- Severe Hypotonia: This refers to extremely low muscle tone or "floppiness," which can affect movement and other bodily functions.
- Feeding Problems: Infants often struggle with feeding, which may require special support.
Summary of Features
Here is a summary of the defining features of the Ohdo syndrome, SBBYS variant, as per the reference:
| Feature Type | Specific Characteristic |
|---|---|
| Facial | Severe Blepharophimosis |
| Immobile, Mask-Like Face | |
| Bulbous Nasal Tip | |
| Small Mouth | |
| Thin Upper Lip | |
| Early Infancy | Severe Hypotonia |
| Feeding Problems |
In conclusion, based on the provided reference, the Ohdo syndrome, SBBYS variant, is a complex syndrome diagnosed in infancy due to severe low muscle tone and feeding issues, coupled with a very specific and recognizable set of facial characteristics.
