Opitz syndrome

Common Name(s)

Opitz syndrome

Opitz syndrome, also called Obitz G/BBB syndrome, is a genetic condition that causes midline abnormalities. Specifically, features of this condition include wide spaced eyes (hypertelorism) along with voice box (larynx) abnormalities, windpipe (trachea) abnormalities, or esophagus abnormalities, which can all cause difficulty with swallowing and breathing. It is also common to have a gap between the trachea and esophagus (laryngeal cleft) that can make it difficult to breathe while eating. Facial changes include a prominent forehead, widow’s peak hairline, flat nasal bridge, thin upper lip, and low set ears. About half of those affected have learning problems (intellectual disabilities) and delays in development. Other features may include a cleft in the lip and/or roof of the mouth (palate). Males sometimes have genital abnormalities, such as an opening on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).

Opitz syndrome can be caused by changes (mutations) in two different genes, as well as a chromosome abnormality. However, each of these genetic causes lead to similar features. The most common cause of Opitz syndrome is a mutation in the MID1 gene located on the X-chromosome. Some cases of Opitz syndrome are caused by missing (deleted) genetic material (DNA) from the long arm of chromosome 22, at location 22q11.2. Other cases are caused by a mutation in the SPECC1L gene.

Opitz syndrome is usually diagnosed by a doctor who is familiar with genetic conditions (geneticist) and a diagnosis is confirmed with genetic testing. Treatment options depend on the complications a child may have and may require surgery. Therapies are helpful for children with developmental delays. If your child has been diagnosed with Opitz syndrome, talk with their doctor to discuss current treatment options. Support groups are available to connect with others affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Opitz syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Opitz syndrome" returned 125 free, full-text research articles on human participants. First 3 results:

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
 

Author(s): Yunhui Peng, Rebecca Myers, Wenxing Zhang, Emil Alexov

Journal:

 

Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene () encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis ...

Last Updated: 31 Dec 1969

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Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.
 

Author(s): André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa

Journal: Taiwan J Obstet Gynecol. 2017 Aug;56(4):541-544.

 

To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies.

Last Updated: 31 Dec 1969

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Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
 

Author(s): Aaron R Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E Roberts

Journal: Congenit Heart Dis. 2017 Jul;12(4):475-483.

 

To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Opitz syndrome" returned 15 free, full-text review articles on human participants. First 3 results:

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
 

Author(s): Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, , Tatiana Tvrdik, Daniel G MacArthur, Rong Mao

Journal: Hum. Mutat.. 2017 05;38(5):517-523.

 

The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions ...

Last Updated: 31 Dec 1969

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Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
 

Author(s): Melissa D Svoboda, Jill M Christie, Yasemen Eroglu, Kurt A Freeman, Robert D Steiner

Journal: Am J Med Genet C Semin Med Genet. 2012 Nov;160C(4):285-94.

 

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol ...

Last Updated: 31 Dec 1969

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Smith-Lemli-Opitz syndrome.
 

Author(s): Andrea E DeBarber, Yasemen Eroglu, Louise S Merkens, Anuradha S Pappu, Robert D Steiner

Journal:

 

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemical and genetic basis for SLOS, specifically ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome; Cone-Rod Dystrophy; Hearing Loss

 

Last Updated: 25 Aug 2017

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Study of Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome

 

Last Updated: 8 Aug 2018

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Bohring-Opitz Syndrome and ASXL Registry
 

Status: Recruiting

Condition Summary: Bohring-Opitz Syndrome; ASXL1 Gene Mutation; Shashi-Pena Syndrome; ASXL2 Gene Mutation; Bainbridge-Ropers Syndrome; ASXL3 Gene Mutation

 

Last Updated: 5 Oct 2017

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