Conditions / Syndrome
orofaciodigital syndrome XVIII
info · Syndrome
An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the
An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
Signs and symptoms
- Cervical ribs
- Upslanted palpebral fissure
- Square face
- Wide nasal bridge
- Brachydactyly
- Short stature
- Delayed skeletal maturation
- Urinary incontinence
- Small forehead
- Cleft lip
Also known as: Oral-facial-digital syndrome type 18; Oral-facial-digital syndrome with short stature and brachymesophalangy; Orofaciodigital syndrome type 18