Ohdo syndrome, SBBYSS variant, typically occurs early in life, with most diagnoses occurring at birth or during infancy. Patients with SBBYSS variant of Ohdo syndrome are characterized with hyperthyroidism, heart defects, facial dysmorphism, hypotonia, mental retardation, and postnatal growth retardation. Skeletal Underdeveloped patellae (kneecaps) are the most common skeletal symptom associated with the syndrome. Additionally, abnormally long thumbs and great toes as well as dental abnormalities are also common among patients. Joint stiffness involving the hips, knees, and ankles is common which impairs movement among patients. Polydactyly, camptodactyly, clinodactyly, brachydactyly, syndactyly, club feet, and abnormalities of the spine and/or ribs may affect patients with the syndrome. Facial Facial signs and symptoms are most distinguishable among patients of this syndrome. Patients with Ohdo syndrome, SBBYS syndrome are characterized to have non-expressive mask-life faces. 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). Clinical Heart malformations, ocular anomalies, and bilateral mixed hearing loss are often present in patients. Genital malformations such as cryptorchidism, hypospadias, clitoromegaly, and hypoplasia are common. In a smaller number of cases, thyroid agenesis, hypothyroidism, intestinal malrotation, and respiratory difficulties are present.
Young–Simpson syndrome
Antley–Bixler syndrome
Witteveen–Kolk syndrome
Grisel's syndrome
Havana syndrome
Michels Caskey syndrome
Bogart–Bacall syndrome
Fowler's syndrome