- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. (OMIM:102370)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:102370)
- Short palm (HP:0004279): Short palm. Evidence: TAS. (OMIM:102370)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. (OMIM:102370)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. (OMIM:102370)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: TAS. (OMIM:102370)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. (OMIM:102370)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. (OMIM:102370)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: TAS. (OMIM:102370)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. (OMIM:102370)
- 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: TAS. (OMIM:102370)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. (OMIM:102370)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. (OMIM:102370)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. (OMIM:102370)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. (OMIM:102370)
- Long eyelashes (HP:0000527): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: TAS. (OMIM:102370)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. (OMIM:102370)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: TAS. (OMIM:102370)
- 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: TAS. (OMIM:102370)
- Fifth metacarpal with ulnar notch (HP:0005900): Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). Evidence: TAS. (OMIM:102370)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:102370)
These phenotypes are associated with the disease Acromicric dysplasia (OMIM:102370).