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Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.
ORPHA:79094Classification level: Disorder
- Grange occlusive arterial syndrome
- Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Childhood
- ICD-10: Q87.8
- OMIM: 602531
- UMLS: C1865267
- MeSH: -
- GARD: -
- MedDRA: -
So far, the syndrome has been reported in six patients from three families.
The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed.