Phenotypes associated with the disease stapes ankylosis with broad thumbs and toes (OMIM:184460):
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:2319886;PMID:10069712)
- Long nose (HP:0003189): Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:10069712)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:184460)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:10069712)
- Stapes ankylosis (HP:0000381): Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). Evidence: TAS. Frequency: Very frequent (HP:0040281). Onset: Congenital onset (HP:0003577). (OMIM:184460)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:184460)
- Proximal fifth finger symphalangism (HP:0009177): Fusion of the proximal and middle phalanges of the 5th finger. Evidence: TAS. (OMIM:184460)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:184460)
- Fused cervical vertebrae (HP:0002949): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: PCS. Frequency: 2/5. (PMID:2319886)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:2319886)
- 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: PCS. Frequency: Very frequent (HP:0040281). (OMIM:184460)
- Low hanging columella (HP:0009765): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:2319886)
- Limited neck range of motion (HP:0000466). Evidence: PCS. Frequency: 3/6. (PMID:2319886;PMID:10069712)
- 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: PCS. (OMIM:184460;PMID:2319886;PMID:10069712)
- Congenital stapes ankylosis (HP:0007943): A form of stapes ankylosis with congenital onset. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:184460)