Phenotypes associated with the disease proximal symphalangism 1A (OMIM:185800):
- Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194). Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:185800)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:10080184)
- Proximal finger symphalangism (HP:0006152): The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. Evidence: PCS. Frequency: 2/2. (PMID:32478388)
- Metacarpophalangeal synostosis (HP:0005880): Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:10080184)
- Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843). Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:185800)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: TAS. (OMIM:185800)
- 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: Frequent (HP:0040282). (PMID:10080184)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:10080184)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:10080184)
- 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. (PMID:10080184)
- Distal finger symphalangism (HP:0001204): The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10080184)