Opitz GBBB syndrome

What is Opitz GBBB syndrome?

Opitz GBBB syndrome is a rare genetic condition that mainly affects males. Females are carriers for this X-linked disorder but rarely show any symptoms.

The syndrome presents with symptoms that may vary considerably between individuals in their presence and severity.

The defining features of this rare disease include, widely spaced eyes, and issues affecting the voice box, windpipe and esophagus.

This syndrome is also known as:
BBB syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypertelorism-hypospadias Syndrome Oculo-genito-laryngeal syndrome Opitz Bbbg Syndrome, Type I; Bbbg1 Opitz GBBB syndrome, X-linked Opitz Syndrome, X-linked; Osx Opitz Syndrome; Os Opitz-Frias syndrome Opitz-g Syndrome, Type I; Ogs1 Telecanthus-hypospadias Syndrome

What gene changes cause Opitz GBBB syndrome?

The MID1 gene is responsible for causing the syndrome.

The syndrome is an X-linked genetic condition. This means females are often only carriers for the syndrome and pass it on to their sons.

Another gene, SPECC1L, is related to similar characteristics but inherited in an autosomal dominant fashion.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Opitz GBBB syndrome?

The main symptoms of the syndrome include unique facial features, developmental delay, intellectual disability and sometimes genital abnormalities too.

Unique facial characteristics of the disorder include widely spaced eyes, a prominent forehead, broad nasal bridge, and a cleft lip and or palate.

Other related health conditions or issues include respiratory abnormalities, brain defects and congenital heart defects.

Possible clinical traits/features:
Anteverted nares, Abnormality of the nasopharynx, Aspiration, Wide nasal bridge, Cleft palate, Anal atresia, Widow's peak, Posterior pharyngeal cleft, Malformation of the heart and great vessels, Cleft upper lip, Cryptorchidism, Agenesis of corpus callosum, Dysphagia, Smooth philtrum, X-linked recessive inheritance, Thin upper lip vermilion, Telecanthus, Prominent forehead, Frontal bossing, Hypertelorism, Global developmental delay, Hypospadias, Gastroesophageal reflux, High palate

How does someone get tested for Opitz GBBB syndrome?

The initial testing for Opitz GBBB syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

Medical information on Opitz GBBB syndrome

Patients with Opitz GBBB syndrome have hypertelorism, laryngotracheoesophageal cleft, cleft lip/palate, swallowing difficulties, genitourinary defects including hypospadias, intellectual disability, developmental delay, and congenital heart defects. Robin et al. (1995) found evidence for heterogeneity, mapping some families with GBBB syndrome to Xp22 and some to 22q11. Robin et al., (1996) suggested that the X-linked cases had anteverted nares and posterior pharyngeal clefts, which distinguished them from the 22q linked cases. The autosomal dominant form of Opitz GBBB syndrome (type II) is caused by heterozygous mutations in the SPECC1L gene.

Two three-generation families reported by Kuszka et al., (2015) had mutations in SPECC1L. Bhoj et al. (2015) reported individuals with Teebi hypertelorism-like syndrome and SPECC1L mutations.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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