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

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
 

Author(s): Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani

Journal:

 

Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, ...

Last Updated: 12 Mar 2016

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
 

Author(s): Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Journal: J. Med. Genet.. 2015 Feb;52(2):104-10.

 

Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated ...

Last Updated: 20 Jan 2015

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Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.
 

Author(s): Mark J Merkens, Nancy L Sinden, Christine D Brown, Louise S Merkens, Jean-Baptiste Roullet, Thuan Nguyen, Robert D Steiner

Journal: J. Pediatr.. 2014 Oct;165(4):836-41.e1.

 

To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity.

Last Updated: 26 Sep 2014

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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: 23 Oct 2012

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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: 22 Jul 2011

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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: 25 Apr 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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 Sep 2015

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Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 23 Jun 2005

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Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 18 Sep 2012

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