Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.

Polydactyly, camptodactyly, clinodactyly, brachydactyly, syndactyly, club feet, and abnormalities of the spine and/or ribs may affect patients with the syndrome.

Additionally, patients may have features such as broad nasal bridges, nose with rounded top, narrowing of the eye opening, and prominent cheeks.

Patients with the syndrome may also have abnormalities of the lacrimal glands and may be born with an opening in the roof of the mouth (cleft palate).

In a smaller number of cases, thyroid agenesis, hypothyroidism, intestinal malrotation, and respiratory difficulties are present.

Source[8] Diagnosis of Ohdo syndrome, SBBYS variant, is done through clinical examination, brain imaging, and molecular studies.

Additionally, tests such as diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain were used to diagnose the disorder.

Management of the syndrome includes regular follow-up based on current complications of the patient and requires specific examinations (pediatric, cardiological, audiometric, orthopedic, neuropsychiatric, ophthalmological, and genetic).