Intellectual deficits and behavioral problems, including autistic features, self-harm behaviors and hyperactivity may be present. [sema4.com]

We describe the orbital findings on CT in this rare case of a patient with Opitz syndrome who presented with congenital glaucoma, with a review of the literature. [ajnr.org]

J., Stewart, R. (1978) The G and BBB syndromes: case presentations, genetics, and nosology. American Journal of Medical Genetics 2: 131–144.CrossRefGoogle Scholar Little, J. R., Opitz, J. M. (1971) The G syndrome. [cambridge.org]

Table 1 summarises the clinical presentation and genotype of each case. The description of these cases illustrates the substantially heterogeneous expressivity of SLOS, even within families. [analesdepediatria.org]

• Short Stature

  A syndrome with variable characteristics marked mainly by short stature, mental deficiency, microcephaly, postaxial polydactyly, cleft palate, cardiovascular defects, genital malformations, and other abnormalities associated with defective cholesterol [icd10data.com]

  Symptoms may include developmental delays, toe defects, slow growth, and short stature. These children generally learn to walk and talk and can acquire other skills, although most do not become independent adults. [myriad.com]

  Short stature and restricted growth. Increased size of the ventricles (chambers of the heart). 2) Behavioral or Mental Characteristics: Low intelligence quotient. Hypersensitivity to different stimuli. Aggressiveness and self-injurious behavior. [icliniq.com]

• Failure to Thrive

  Dev Med Child Neurol 15:48–55 Google Scholar Jeanty P, Delbeke D, Lemli L, Dorchy H (1977) Smith-Lemli-Opitz syndrome without failure to thrive. [link.springer.com]

  Signs and symptoms The following signs and symptoms may be noted in Smith-Lemli-Opitz syndrome: Lethargy Obtundation or coma Respiratory failure Hearing loss Visual loss Vomiting Feeding difficulties Failure to thrive Constipation Cyanosis Congestive [emedicine.medscape.com]

  Clinical findings common to cholesterol biosynthesis disorders include congenital skeletal malformations, dysmorphic facial features, psychomotor retardation, and failure to thrive. [mayocliniclabs.com]

  However, despite adequate energy intake, failure to thrive frequently persists during infancy and childhood. [cmaj.ca]

• Psychomotor Retardation

  Clinical findings common to cholesterol biosynthesis disorders include congenital skeletal malformations, dysmorphic facial features, psychomotor retardation, and failure to thrive. [mayocliniclabs.com]

There are no established guidelines on the diagnostic workup or management of nephrotic syndrome. [aafp.org]

Workup Fetal ultrasonography may reveal anomalies suggestive of Smith-Lemli-Opitz syndrome. Confirmatory prenatal diagnostic testing is currently available by genetic mutation analysis. [emedicine.medscape.com]

• Occipital Encephalocele

  Presence of occipital encephalocele as well as dysplastic kidneys favors Meckel syndrome. Genital anomalies and syndactyly support SLO. [thefetus.net]

He hopes to reveal more about the molecular processes that cause SLOS, develop new clinical tests for monitoring disease progression, assess the potential of two possible new treatments, and find out more about how one of the treatments works. [action.org.uk]

However, there is insufficient data on whether these treatments have a significant clinical impact on the symptoms of the disease. [sharinghealthygenes.com]

C 16 Corticosteroid treatment has no proven benefit, but is recommended by some physicians for persons with nephrotic syndrome who are not responsive to conservative treatment. [aafp.org]

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31;68(3):311–314. [ncbi.nlm.nih.gov]

Treatment Options: Currently, most SLOS patients are treated with dietary cholesterol supplementation. [medigoo.com]

Prognosis Prognosis is variable but usually favorable, depending on the severity of malformations and associated ID. * European Reference Network The documents contained in this web site are presented for information purposes only. [orpha.net]

What Is the Prognosis for a Person with Smith-Lemli-Opitz Syndrome? Although serious internal malformations can lead to early death, many people with SLOS can have a normal lifespan with good nutrition and medical care. [myriad.com]

Prognosis Sjögren syndrome carries a generally good prognosis. In patients who develop a disorder associated with Sjögren syndrome, the prognosis is more closely related to the associated disorder (eg, SLE, lymphoma). [emedicine.medscape.com]

Treatment and prognosis The syndrome carries a poor prognosis with most infants not surviving long after birth. References Promoted articles (advertising) [radiopaedia.org]

Etiology The etiology of C syndrome is still unknown. Genetic counseling Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. [orpha.net]

Published: December 1984 A detailed pathological study as a clue to a etiological heterogeneity G. I. Lazjuk1, T. I. Ostrovskaya1, I. A. Shved1, G. I. Kravtzova1, I. W. Lurie1 & … A. I. [link.springer.com]

This condition is similar but distinct from MRKH syndrome (see Etiology section) and may therefore lead to confusion. [ncbi.nlm.nih.gov]

The etiology of Sjögren syndrome is not well understood. [emedicine.medscape.com]

Summary Epidemiology Whilst epidemiological data is limited, the prevalence of X-linked Optiz GBBB syndrome (GBBB) has been suggested to range from 1/50,000 to 1/100,000. Males are more severely affected. [orpha.net]

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs. 2015 Mar;3(3):267-280. doi: 10.1517/21678707.2015.1014472. [medlineplus.gov]

"PICU COVID-19 International Collaborative - Epidemiology and Treatment of MIS-C" References CDC.gov, 2020. MIS-C. https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html Cheung et al, 2020. [news-medical.net]

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. [rarediseases.org]

In: Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 10th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. https://www.clinicalkey.com. Accessed May 12, 2017. AskMayoExpert. [mayoclinic.org]

Some suggestion of a potential therapeutic response has been seen with hydroxymethylglutaryl-coenzyme-A-reductase inhibitors (statins), but adverse events are not infrequent. [3] Pathophysiology The classic paradigm for the pathogenesis of an inborn error [emedicine.medscape.com]

The underlying pathophysiology of nephrotic syndrome is not completely clear. 4 Although the more intuitive “underfill” mechanism of edema from reduced oncotic pressure caused by marked proteinuria may be the primary mechanism in children with acute [aafp.org]

Mitochondrial dysregulation is reported in several pathophysiological conditions especially involving brain pathology [27, 28]. [ijponline.biomedcentral.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Cholesterol plays an essential role in many cellular and developmental processes. [mayocliniclabs.com]

Prevention In the U.S., the Pfizer-BioNTech COVID-19 vaccine is now available to people age 12 and older. A vaccine can prevent you or your child from getting the COVID-19 virus. [mayoclinic.org]

SLOS is a genetic condition caused by inheritance of two non-working copies of an autosomal recessive gene (one copy inherited from each parent) that reduces the amount of an important enzyme (7- dehydrocholesterol reductase) preventing normal cholesterol [nicklauschildrens.org]

Tracheostomy or mandibular distraction to treat difficulty breathing Regular heart monitoring if heart malformations are present Surgery to treat any of the following: Laryngotracheoesophageal malformations Cleft lip/palate Heart defects Reflux medications to prevent [chop.edu]

Is it possible to prevent thoracic outlet syndrome? It's possible to prevent thoracic outlet syndrome by maintaining relaxed tissues of the upper chest. [medicinenet.com]