Smith Lemli Opitz syndrome- type 1
Overview
Main name of condition: Smith-Lemli-Opitz Syndrome Other names or spellings for Smith-Lemli-Opitz Syndrome: Smith-Lemli-Opitz syndrome, type 1, SLO syndrome type 1, 7-Dehydrocholesterol reductase deficiency, RSH syndrome. hereditary developmental disorder; characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature; biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
Symptoms
The list of signs and symptoms mentioned in various sources for Smith-Lemli-Opitz Syndrome includes the 39 symptoms listed below: * Small birth size * Failure to thrive * Mental deficiency moderate to severe * Variable altered muscle tone * Small head * Narrow front of face * Slanted auricles * Low-set auricles * Drooping upper eyelid * Inner epicanthal folds * Strabismus * Broad nasal tip * Anteverted nostrils * Broad maxillary secondary alveolar ridges * Small lower jaw * Simian crease * High frequency of digital whorl dermal ridge patterning * Syndactyly of second toes * Syndactyly of third toes * Genital abnormalities * Hypospadias * Undescended testes * Small penis * Hypoplastic scrotum * Bifid scrotum * Microurethra * Upper tract anomalies * Ureteropelvic junction obstruction * Hydronephrosis * Renal cystic dysplasia * Renal duplication * Renal agenesis * Reflux * Infant feeding difficulty * Infant vomiting * Infant irritability * Shrill screaming in infants * Hypotonic infant * Hypertonic after infancy Note that Smith-Lemli-Opitz Syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Smith-Lemli-Opitz Syndrome signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Anteverted nostrils * Drooping upper eyelid * Failure to thrive * Hypoplastic scrotum * Infant feeding difficulty * Infant irritability * Infant vomiting * Reflux * Simian crease * Small head * Small lower jaw * Small penis * Strabismus
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. This medical information about signs and symptoms for Smith-Lemli-Opitz Syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Smith-Lemli-Opitz Syndrome signs or Smith-Lemli-Opitz Syndrome symptoms. Furthermore, signs and symptoms of Smith-Lemli-Opitz Syndrome 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 symptoms.