Phenotypes associated with the disease external auditory canal atresia-vertical talus-hypertelorism syndrome (OMIM:133705):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. (OMIM:133705)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. (OMIM:133705)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: IEA. (OMIM:133705)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: IEA. (OMIM:133705)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:133705)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. (OMIM:133705)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: IEA. (OMIM:133705)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. (OMIM:133705)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:133705)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: IEA. Onset: Congenital onset (HP:0003577). (OMIM:133705)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: IEA. (OMIM:133705)