Krieble-Bixler Syndrome

Inherited syndrome characterized by ocular hypotelorism, submucosal cleft palate, clinodactyly of the fifth finger, and hypospadias. May present with tetralogy of Fallot and short stature (dwarfism).

Hypotelorism with Cleft Palate and Hypospadias; Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias Syndrome.

One case report of a father and his son. Autosomal dominant inheritance.

Ocular manifestations include hypotelorism, blepharophimosis, epicanthus and upslanting of the palpebral fissures. Submucosal cleft palate, inguinal hernia and hypospadias, syndactyly of the third and fourth fingers and second and third toes and clinodactyly of the fifth finger were other characteristic features. Tetralogy of Fallot was present in the boy only.

Infants with cleft palate may suffer from feeding difficulties resulting in failure to thrive, anemia, and repeated respiratory infections. Preoperative screening for hemoglobin level and signs of ongoing infection may be warranted. Cleft palate may make laryngoscopy awkward, although not usually difficult. Cardiac assessment is recommended and echocardiography may be indicated to rule out structural lesions.

Schilbach-Rott Syndrome (Ocular Hypotelorism-Cleft Palate-Hypospadias Syndrome; Cleft Palate-Hypotelorism-Hypospadias Syndrome): Ten patients in one family (over 5 generations) have been reported. Characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias. Other clinical features include blepharophimosis, upslanted palpebral fissures, cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3. No known congenital heart defects associated.

Harrod Syndrome: Characterized by mental retardation, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, unusual facial appearance (hypotelorism, long nose, highly arched palate, pointed chin, microstomia), and hypospadias.