Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Also known as: 7-dehydrocholesterol reductase deficiency, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, SLO syndrome, SLOS, Smith-Lemli-Opitz syndrome, Smith Lemli Opitz syndrome, polydactyly, sex reversal, renal hypoplasia, and unilobular lung.
Category: General
Symptoms associated with Smith-Lemli-Opitz syndrome
The following symptoms have been associated with Smith-Lemli-Opitz syndrome in medical literature. Not everyone experiences the same symptoms.
Abdominal distention
Distention of the abdomen....
Constipation
Infrequent or difficult evacuation of feces....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate Smith-Lemli-Opitz syndrome
Healthcare providers may order these tests when evaluating Smith-Lemli-Opitz syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Smith-Lemli-Opitz syndrome, which is why a clinical evaluation is important.
Prader-Willi syndrome
Prader-Willi syndrome is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities is a medical condition that may b...
Frequently Asked Questions
What is Smith-Lemli-Opitz syndrome?
Smith-Lemli-Opitz syndrome is a health condition described in medical literature. Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
What are the symptoms of Smith-Lemli-Opitz syndrome?
Smith-Lemli-Opitz syndrome is associated with 9 symptoms in the medical literature we index, including Abdominal distention, Constipation, Failure to thrive, Gastroesophageal reflux, Hearing impairment, Hypertension. Symptoms vary widely between individuals.
How is Smith-Lemli-Opitz syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Smith-Lemli-Opitz syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Smith-Lemli-Opitz syndrome, please discuss your symptoms with a qualified healthcare provider.