- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:151200)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. (OMIM:151200)
- 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:151200)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: PCS. Frequency: 7/7. (PMID:24442880)
- 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: IEA. (OMIM:151200)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:151200)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: PCS. Frequency: 1/7. (PMID:24442880)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:151200)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/7. (PMID:24442880)
- 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. Frequency: 1/7. (PMID:24442880)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 7/7. (PMID:24442880)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. (OMIM:151200)
- Genu recurvatum (HP:0002816): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: IEA. (OMIM:151200)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: TAS. (OMIM:151200)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: IEA. (OMIM:151200)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. Frequency: 1/7. (PMID:24442880)
- Interphalangeal joint contracture of finger (HP:0001220): Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 4/7. (PMID:24442880)
- Short palm (HP:0004279): Short palm. Evidence: TAS. (OMIM:151200)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. Frequency: 4/7. (PMID:24442880)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. (OMIM:151200)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: PCS. Frequency: 7/7. (PMID:24442880)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. (OMIM:151200)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 5/7. (PMID:24442880)
- Short stepped shuffling gait (HP:0007311). Evidence: TAS. (OMIM:151200)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:151200)
- Enlarged interphalangeal joints (HP:0006247). Evidence: TAS. (OMIM:151200)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:151200)
- 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:24442880)
- Cervical C2/C3 vertebral fusion (HP:0004602): Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. Evidence: PCS. Frequency: 2/7. (PMID:24442880)
These phenotypes are associated with the disease Leri pleonosteosis (OMIM:151200).