Short answer · Medically reviewed summary · Last updated: 2023-07-13
Setleis Syndrome is a rare genetic disorder characterized by distinctive facial features, skin abnormalities, and other associated symptoms. It is also known as "blepharophimosis-ptosis-epicanthus inversus syndrome" (BPES) or "Setleis syndrome type 2." The ICD-10 code for Setleis Syndrome is Q10.3.
ICD10 code of Setleis Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Setleis Syndrome, with classification details for clinicians, coders and patients.
Setleis Syndrome is a rare genetic disorder characterized by distinctive facial features, skin abnormalities, and other associated symptoms. It is also known as "blepharophimosis-ptosis-epicanthus inversus syndrome" (BPES) or "Setleis syndrome type 2."
The ICD-10 code for Setleis Syndrome is Q10.3. This code falls under the category of "Congenital malformations of eye, ear, face, and neck" in the ICD-10 coding system.
Setleis Syndrome is primarily characterized by the following features:
- Blepharophimosis: Narrowing of the eyelid openings.
- Ptosis: Drooping of the upper eyelids.
- Epicanthus inversus: An upwardly folded skin fold near the inner corner of the eye.
In addition to these facial abnormalities, individuals with Setleis Syndrome may also exhibit:
- Distinctive facial appearance: A characteristic facial appearance with a flat midface, a small nose, and a thin upper lip.
- Abnormal skin: The skin may be dry, thickened, or have a pebbled texture.
- Hair abnormalities: Sparse or absent eyebrows and eyelashes.
- Intellectual disability: Some individuals with Setleis Syndrome may have intellectual disability, although the severity can vary.
- Other features: Less commonly, individuals may have hearing loss, dental abnormalities, or skeletal abnormalities.
Diagnosis of Setleis Syndrome is typically based on the presence of characteristic facial features and other associated symptoms. Genetic testing may be performed to confirm the diagnosis.
As for the ICD-9 code, it is important to note that the ICD-9 coding system has been replaced by ICD-10. However, for reference purposes, the ICD-9 code previously used for Setleis Syndrome was 374.44. This code fell under the category of "Other disorders of eyelid" in the ICD-9 coding system.
It is crucial to consult with a healthcare professional or a genetic specialist for an accurate diagnosis and appropriate management of Setleis Syndrome. They can provide comprehensive information, guidance, and support for individuals and families affected by this rare genetic disorder.
