Conditions / Syndrome
congenital limbs-face contractures-hypotonia-developmental delay syndrome
info · Syndrome
A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chr
A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.
Signs and symptoms
- Long philtrum
- Short columella
- Motor delay
- Delayed speech and language development
- Wide nasal bridge
- Adducted thumb
- Camptodactyly
- Enlarged naris
- Drooling
- Prominent nasolabial fold
Also known as: CLIFAHDD syndrome; congenital contractures of the limbs and face, hypotonia, and developmental delay