Inherited syndrome characterized by
ocular hypotelorism, submucosal cleft palate, clinodactyly of the fifth
finger, and hypospadias. May present with tetralogy of Fallot and short
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
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.
Krieble BF, Bixler D: Autosomal dominant blepharophimosis with multiple
congenital anomalies. J Clin Dysmorphol
Schilbach U, Rott H-D: Ocular hypotelorism, submucosal cleft palate, and
hypospadias: A new autosomal dominant syndrome. Am J Med Genet