Mohr syndrome, one of the numerous forms of oro-facial-digital syndrome (OFDS), is a rare autosomal recessive disorder characterized by specific anomalies of the oral cavity, face, and digits. The diagnosis is clinical and hence a thorough physical exam is essential.
Mohr syndrome is the second of at least nine distinct subtypes of oro-facial-digital syndrome (OFDS). Also referred to as type II OFDS, Mohr syndrome is a rare autosomal recessive disorder  which is characterized by a cluster of congenital anomalies. It features oral deformities such as a cleft or high-arched palate, cleft lip, tongue nodules, and absent teeth. Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip . Furthermore, the digital abnormalities include pre- and post-axial polydactyly of the hands and feet, partial bilateral duplication of the hallux, syndactyly, clinodactyly, polydactyly, and brachydactyly . Moreover, there is a duplication of the first metatarsal, cuneiform, and cuboid bones . Other skeletal features may include pectus excavatum and scoliosis.
Patients with Mohr syndrome also exhibit systemic manifestations such as conductive deafness   and possible developmental complications including laryngeal hypoplasia and tracheal stenosis . Additionally, affected individuals are at risk for cardiac malformations such as endocardial cushion and atrioventricular canal  . There are also case reports describing cerebellar atrophy and other changes in patients with this form of OFDS .
Intelligence is typically normal in patients with Mohr syndrome.
It is important to conduct a thorough exam and to note the specific physical findings described above. Diagnosing Mohr syndrome and differentiating it from the other variants of OFDS is challenging since many share overlapping features.
Every newborn must be examined completely from head-to-toe, which is a key component of the neonatal assessment, The presence of any anomaly should prompt the clinician to look for other abnormalities. Patients presenting with oral, facial and digital malformations should raise suspicion for OFDS, which is a clinical diagnosis. Hence the workup consists of the patient and family history and a detailed physical exam. Furthermore, investigation of other possible manifestations may be undertaken in order to ascertain the full clinical picture.
Patients with OFDS are evaluated with a skeletal survey to determine which digits and bones are involved and to add clarity regarding the present deformities . Moreover, other recommended studies include magnetic resonance imaging (MRI) of the brain, audiometric assessment, an ophthalmologic evaluation, and abdominal ultrasound . OFDS patients with heart murmurs warrant cardiac evaluation with echocardiography . Laryngoscopy may be indicated as well . Since Mohr syndrome also affects dentition, a panoramic x-ray is required .
Routine widespread use of prenatal ultrasonography allows for the detection of fetal defects, which consequentially leads to genetic counseling  and the appropriate assessment.