Brachydactyly and arterial hypertension syndrome (disorder)
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Term information
altLabel
Brachydactyly type E with short stature and hypertension
Bilginturan syndrome
Bilginturan brachydactyly
definition
A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50.
Term relations
Subclass of:
- Autosomal dominant hereditary disorder (disorder)
- Hypertensive disorder, systemic arterial (disorder)
- Brachydactyly syndrome type E (disorder)
- Brachydactyly syndrome type E (disorder) and Hypertensive disorder, systemic arterial (disorder) and Autosomal dominant hereditary disorder (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Abnormally short growth (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Entire digit (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Dysplasia (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Bone structure of hand (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Finding site (attribute) some Systemic circulatory system structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))