Conditions / Syndrome
rapadilino syndrome
info · Syndrome
A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase
A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Signs and symptoms
- Aplasia/Hypoplasia of the radius
- Short stature
- Diarrhea
- Feeding difficulties
- Aplasia/Hypoplasia of the patella
- Joint dislocation
- Cleft palate
- Hearing impairment
- Long face
- Short chin