[4] Examples of resulting damages are bladder function, prickling or tingling sensations, stiffness and weakness in the legs, and back pain.

[6] Diagnosis is based on a presentation concurrent with previous clinical reports, as well as a heterozygous pathogenic variant in the NOTCH3 gene.

[5] Diagnosis of Lehman syndrome may be suspected based on several distinctive facial features, the presence of lateral meningoceles, hyperextensibility, and hypotonia.

[7] Aside from physical presence, radiographic images of the spine may also clinically diagnose lateral meningoceles.

With molecular genetic testing, Lehman syndrome is positively identified with the presence of a pathogenic variant in NOTCH3.

[5] When the disorder was initially discovered, features of maldevelopment of the spinal cord, cerebellum, and cerebral cortex distinguished the diagnosis of Lehman syndrome.

Further, some patient benefit from rehabilitation medicine, physiotherapy, as well as routine management of cleft palate, hearing loss, congenital cardiac defects, genitourinary abnormalities, and feeding difficulties.

[11] Males diagnosed with Lehman syndrome were effected the same as females causing the believed inheritance pattern to be autosomal dominant, not X-linked.

[4] The mutation causes the Notch 3 protein to be in the cell nucleus for a prolonged period of time continuing to affect gene activity.