Phenotypes associated with the disease pseudoachondroplasia (OMIM:177170):
- Delayed epiphyseal ossification (HP:0002663). Evidence: PCS. (PMID:20301660)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. (OMIM:177170)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 3/6. (PMID:27432013)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: PCS. (PMID:20301660)
- 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: 6/6. (PMID:27432013)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. (OMIM:177170)
- Cervical cord compression (HP:0002341): Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. Evidence: TAS. (OMIM:177170)
- Ulnar metaphyseal irregularity (HP:0004042): Irregularity of the normally smooth surface of the metaphysis of the ulna. Evidence: PCS. (PMID:21599986)
- 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. (PMID:20301660)
- Limited hip extension (HP:0003093): Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. Evidence: PCS. (PMID:20301660)
- Spatulate ribs (HP:0012307): Ribs that are increased in width and taper to the posterior ends. Evidence: TAS. (OMIM:177170)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:177170)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: TAS. (OMIM:177170)
- Genu recurvatum (HP:0002816): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: TAS. (OMIM:177170)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. (PMID:20301660)
- 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:177170)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Onset: Childhood onset (HP:0011463). (PMID:20301660)
- Flared femoral metaphysis (HP:0002834). Evidence: PCS. (PMID:21599986)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Onset: Childhood onset (HP:0011463). (PMID:20301660)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: PCS. Frequency: 11/16. (PMID:27432013;PMID:20301660)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:177170)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/6. (PMID:27432013)
- Radial metaphyseal irregularity (HP:0004019): Irregularity of the normally smooth surface of the metaphysis of the radius. Evidence: PCS. (PMID:21599986)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:177170)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:177170)
- Irregular carpal bones (HP:0004236): Carpal bones with irregular or fragmented margins. Evidence: PCS. (PMID:20301660)
- Ulnar deviation of the wrist (HP:0003049). Evidence: TAS. (OMIM:177170)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 6/6. (PMID:27432013)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: PCS. Frequency: 5/6. (PMID:27432013)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 5/6. (PMID:27432013)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. (PMID:20301660)
- Small epiphyses of the phalanges of the hand (HP:0010236): Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. Evidence: TAS. (OMIM:177170)
- Fragmented, irregular epiphyses (HP:0005063). Evidence: TAS. (OMIM:177170)
- Childhood onset short-limb short stature (HP:0011405). Evidence: TAS. (OMIM:177170)
- Fragmented epiphyses (HP:0100168): Fragmented appearance of the epiphyses. Evidence: TAS. (OMIM:177170)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Onset: Childhood onset (HP:0011463). (PMID:20301660)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. (OMIM:177170)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: PCS. Frequency: 5/6. (PMID:27432013)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 5/6. Onset: Childhood onset (HP:0011463). (PMID:27432013)
- Limited shoulder movement (HP:0006467): A limitation of the range of movement of the shoulder joint. Evidence: PCS. Frequency: 2/6. (PMID:27432013)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. (OMIM:177170)
- 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:177170)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 5/6. (PMID:27432013)
- Atlantoaxial dislocation (HP:0003414): Partial dislocation of the atlantoaxial joint. Evidence: TAS. (OMIM:177170)