Paula and Bobby
Parents of Lillie
Opitz GBBB Syndrome, Type II
What is Opitz GBBB Syndrome, Type II?
It is a rare genetic syndrome that mainly affects the eyes and throat of affected individuals. Due to the way in which it is inherited it affects mainly males, and affects them more severely than females.
Bbb Syndrome Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype G Syndrome Gbbb Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypertelorism-hypospadias Syndrome Hypospadias-dysphagia Syndrome Oculo-genito-laryngeal syndrome Opitz Bbbg Syndrome Opitz Gbbb Syndrome, Autosomal Dominant Opitz Oculogenitolaryngeal Syndrome, Type Ii Opitz-frias Syndrome Opitz-g Syndrome, Type Ii; Ogs2 Telecanthus With Associated Abnormalities Telecanthus-hypospadias Syndrome
What gene changes cause Opitz GBBB Syndrome, Type II?
Changes to the SPECCL1 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.
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.
Opitz GBBB syndrome type 1 occurs with a similar manifestation, and is caused by mutations in the MID1 gene. It is inherited in an X-linked recessive pattern.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
What are the main symptoms of Opitz GBBB Syndrome, Type II?
The main symptom of the syndrome is widely spaced eyes.
Other main symptoms include anomalies affecting the throat- most specifically the trachea, larynx and esophagus.
Developmental delay and intellectual disability, noth are usually severe, are also common with the syndrome.
Other symptoms include a cleft palate, hearing loss and immune deficiency.
Symptoms may vary according to the cause of the syndrome.
Possible clinical traits/features:
Hypertelorism, High palate, Hiatus hernia, Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellar vermis, Global developmental delay, Hypospadias, Autosomal dominant inheritance, Posteriorly rotated ears, Short lingual frenulum, Widow's peak, Patent ductus arteriosus, Frontal bossing, Telecanthus, Prominent forehead, Thin upper lip vermilion, Strabismus, Pulmonary hypoplasia, Pulmonary arterial hypertension, Absent gallbladder, Ventricular septal defect, Umbilical hernia, Weak cry, Tracheoesophageal fistula, Muscular hypotonia, Inguinal hernia, Laryngeal cleft, Micrognathia, Intellectual disability, Diastasis recti, Ventriculomegaly, Smooth philtrum, Downslanted palpebral fissures, Agenesis of corpus callosum, Dysphagia, Conductive hearing impairment, Craniosynostosis, Cranial asymmetry, Cryptorchidism, Epicanthus, Coarctation of aorta, Cleft upper lip, Cleft palate, Anal stenosis, Anal atresia, Abnormality of the ureter, Abnormality of the kidney, Cavum septum pellucidum, Wide nasal bridge, Atrial sept
How does someone get tested for Opitz GBBB Syndrome, Type II?
The initial testing for Opitz GBBB Syndrome, Type II 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, Type II
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.
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