Smith-Lemli-Opitz syndrome- type 2
Overview
Smith-Lemli-Opitz syndrome, type 2: 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
The list of signs and symptoms mentioned in various sources for Smith-Lemli-Opitz syndrome, type 2 includes the 31 symptoms listed below: * 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 Note that Smith-Lemli-Opitz syndrome, type 2 symptoms usually refers to various symptoms known to a patient, but the phrase Smith-Lemli-Opitz syndrome, type 2 signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Ambiguous genitalia * Camptodactyly * Cleft lips * Cleft palate * Clubfeet * Clubfoot * Congenital heart defect * Downslanting space between eyelids * Hydrocephalus * Low set ears * Retarded fetal growth * Retarded growth * Small jaw * Small testes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Smith-Lemli-Opitz syndrome, type 2. This medical information about signs and symptoms for Smith-Lemli-Opitz syndrome, type 2 has been gathered from various sources, may not be fully accurate, and may not be the full list of Smith-Lemli-Opitz syndrome, type 2 signs or Smith-Lemli-Opitz syndrome, type 2 symptoms. Furthermore, 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.