Genito palato cardiac syndrome

Overview

A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.

Symptoms

* Low set ears * Cleft palate * Cleft lips * Pseudohermaphroditism * Musculoskeletal defects * Thumb deformities * Big toe deformities * Camptodactyly * Dysplastic ribs * Retarded growth * Short limbs * Clubfeet * Cystic kidney * Kidney urinary bladder dysgenesis * Congenital heart defect * Intestinal malrotation * Gallbladder agenesis * Hydrocephalus * Downslanting space between eyelids * Small jaw * Double outlet right ventricle * Ventricular septal defect * Ambiguous genitalia * Transposed great vessels in heart * Right-sided aortic arch * Cystic kidneys * Abnormal placement of urethral opening * Retarded fetal growth * Male pseudohermaphrodism * Small testes * Clubfoot

Diagnosis

signs and symptoms of Smith-Lemli-Opitz syndrome, type 2 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Smith-Lemli-Opitz syndrome, type 2 symptoms.

Resources

Genito-palato-cardiac syndrome: Another name for Smith-Lemli-Opitz syndrome, type 2