Disease - Linear skin defects with multiple congenital anomalies 2
Definition
A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.
Acronym
LSDMCA2
Synonyms
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies
APLCC
APLCC
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