Conditions / Syndrome
orofaciodigital syndrome II
info · Syndrome
An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compou
An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33.
Signs and symptoms
- Preaxial hand polydactyly
- Flared metaphysis
- Short stature
- Brachydactyly
- Median cleft upper lip
- Lobulated tongue
- Bifid tongue
- Broad nasal tip
- Preaxial foot polydactyly
- Bifid nasal tip
Also known as: Mohr syndrome; Oral-facial-digital syndrome type 2