Phenotypes associated with the disease brachydactyly type A1 (OMIM:112500):
- Short palm (HP:0004279): Short palm. Evidence: TAS. (OMIM:112500)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. (ISBN-13:978-3437214301)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:112500)
- Absent distal interphalangeal creases (HP:0001032): Absence of the distal interphalangeal flexion creases of the fingers. Evidence: PCS. (OMIM:112500)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. (ISBN-13:978-3437214301)
- Flattened metatarsal heads (HP:0005194): Abnormally flat shape of the heads of the metatarsal bones. Evidence: PCS. (ISBN-13:978-3437214301)
- Short proximal phalanx of hallux (HP:0010107): Underdevelopment (hypoplasia) of the proximal phalanx of big toe. Evidence: PCS. (ISBN-13:978-3437214301)
- Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194). Evidence: PCS. (ISBN-13:978-3437214301)
- Radial deviation of the 3rd finger (HP:0009462): Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). Evidence: TAS. (OMIM:112500)
- 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: TAS. (OMIM:112500)
- Proportionate shortening of all digits (HP:0006165). Evidence: TAS. (OMIM:112500)
- Radial deviation of the 2nd finger (HP:0009467): Displacement of the 2nd finger towards the radial side. Evidence: TAS. (OMIM:112500)
- Radial deviation of the 4th finger (HP:0009279): Displacement of the 4th finger towards the radial side (i.e., towards the thumb). Evidence: TAS. (OMIM:112500)
- Broad metacarpal epiphyses (HP:0006146): Increased side-to-side width of the metacarpal epiphyses. Evidence: TAS. (OMIM:112500)
- Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843). Evidence: PCS. (ISBN-13:978-3437214301)
- Thin proximal phalanges with broad epiphyses of the hand (HP:0006213). Evidence: TAS. (OMIM:112500)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. (OMIM:112500)
- Slender metacarpals (HP:0006236): Decreased width of the metacarpal bones (that is, reduced diameter). Evidence: TAS. (OMIM:112500)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: TAS. (OMIM:112500)
- Short proximal phalanx of thumb (HP:0009638): Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Evidence: PCS. (ISBN-13:978-3437214301)
- 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:112500)
- 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. (OMIM:112500)