What is Teebi Hypertelorism Syndrome?
Teebi Hypertelorism Syndrome 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.
Syndrome Synonyms:
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 Teebi Hypertelorism syndrome?
Changes to the SPECCL1 and CDH11 genes 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.
What are the main symptoms of Teebi Hypertelorism syndrome?
- 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, which 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 septum defect.
How is it diagnosed?
To find out if someone has a diagnosis of Teebi Hypertelorism syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
