Conditions / Syndrome
Filippi syndrome
info · Syndrome
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q1
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
Signs and symptoms
- Decreased body weight
- Dystonia
- Cerebellar atrophy
- Seizure
- Frontal hirsutism
- Cutaneous syndactyly
- Ventricular septal defect
- Single transverse palmar crease
- Broad forehead
- Postnatal growth retardation
Also known as: Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome