Acromesomelic dysplasia 2B
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Sign InDescription
Du Pan syndrome (DUPANS) is a rare acromesomelic dysplasia characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
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