Phenotypes associated with the disease spondyloperipheral dysplasia (OMIM:271700):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- 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: IEA. (OMIM:271700)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: IEA. (OMIM:271700)
- 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: PCS. Frequency: 1/1. (PMID:8723097)
- 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. Frequency: 1/1. (PMID:8723097)
- Flat capital femoral epiphysis (HP:0003370): An abnormal flattening of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- 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: 1/1. (PMID:8723097)
- Short distal phalanx of the 3rd finger (HP:0004180): Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: IEA. (OMIM:271700)
- Rhizomelic leg shortening (HP:0012106): Disproportionate shortening of the proximal segment of the leg (i.e. the femur). Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:271700)
- 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: IEA. (OMIM:271700)
- Shortening of all middle phalanges of the fingers (HP:0006110): Short, hypoplastic middle phalanx of finger, affecting all fingers. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Short distal phalanx of the 2nd finger (HP:0009566): Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Pugilistic facies (HP:0000339): Coarse facial features reminiscent of those of a boxer. Evidence: IEA. (OMIM:271700)
- 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:271700)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: IEA. (OMIM:271700)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- 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: PCS. Frequency: 1/1. (PMID:8723097)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:271700)
- Absent styloid process of ulna (HP:0005068). Evidence: IEA. (OMIM:271700)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:271700)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:271700)
- Acetabular spurs (HP:0010454): The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Short distal phalanx of the 4th finger (HP:0009290): Hypoplastic/small distal phalanx of the fourth finger. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. (OMIM:271700)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: IEA. (OMIM:271700)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:271700)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:271700)
- Shortening of all proximal phalanges of the fingers (HP:0006144): Congenital hypoplasia of proximal phalanx of finger or all fingers. Evidence: TAS. (OMIM:271700)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: IEA. (OMIM:271700)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:271700)
- 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:8723097)
- Short distal phalanx of the 5th finger (HP:0004227): Hypoplastic/small distal phalanx of the fifth finger. Evidence: PCS. Frequency: 1/1. (PMID:8723097)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: PCS. Frequency: 1/1. (PMID:8723097)