Rhizomelic limb shortening with dysmorphic features
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Sign InDescription
Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia (Sajan et al., 2019).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
2