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 118 free, full-text research articles on human participants. First 3 results:

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
 

Author(s): Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg

Journal: Prenat. Diagn.. 2017 Apr;37(4):350-355.

 

To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences.

Last Updated: 31 Dec 1969

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A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.
 

Author(s): Kurt A Freeman, Erin Olufs, Megan Tudor, Jean-Baptiste Roullet, Robert D Steiner

Journal: J Dev Behav Pediatr. 2016 Jun;37(5):424-30.

 

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with disorder severity. Sleep disturbance is commonly ...

Last Updated: 31 Dec 1969

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Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice.
 

Author(s): Peng Zhang, Caihong Xing, Steven D Rhodes, Yongzheng He, Kai Deng, Zhaomin Li, Fuhong He, Caiying Zhu, Lihn Nguyen, Yuan Zhou, Shi Chen, Khalid S Mohammad, Theresa A Guise, Omar Abdel-Wahab, Mingjiang Xu, Qian-Fei Wang, Feng-Chun Yang

Journal: Stem Cell Reports. 2016 Jun;6(6):914-25.

 

De novo ASXL1 mutations are found in patients with Bohring-Opitz syndrome, a disease with severe developmental defects and early childhood mortality. The underlying pathologic mechanisms remain largely unknown. Using Asxl1-targeted murine models, we found that Asxl1 global loss as ...

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 14 free, full-text review articles on human participants. First 3 results:

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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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
 

Author(s): Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjaergaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter Turnpenny, Bregje van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

Journal: Eur. J. Hum. Genet.. 2011 May;19(5):513-9.

 

Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously ...

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: 18 Oct 2017

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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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