Phenotypes associated with the disease Pseudoleprechaunism syndrome, Patterson type (ORPHA:2976):
- Abnormal odontoid process morphology (HP:0003310): Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Metaphyseal sclerosis (HP:0004979): Abnormally increased density of metaphyseal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Abnormal limb epiphysis morphology (HP:0006505): An anomaly of one or more epiphyses of a limb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Palmoplantar cutis laxa (HP:0007517): Loose, wrinkled skin of hands and feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Generalized bronze hyperpigmentation (HP:0007574). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Delayed pubic bone ossification (HP:0008788): Delayed maturation and calcification of the pubic bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Abnormal placental size (HP:0012767): A deviation from normal size of the placenta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Abnormal ethmoid bone morphology (HP:0430005): An abnormality of the ethmoid bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Hyperplasia of the maxilla (HP:0430028): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Abnormal mandible condylar process morphology (HP:3000077): An abnormality of a mandible condylar process. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Atonic seizure (HP:0010819): Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2976)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2976)
- Increased circulating androgen concentration (HP:0030348): An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2976)
- Bladder diverticulum (HP:0000015): Diverticulum (sac or pouch) in the wall of the urinary bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Long foot (HP:0001833): Increased back to front length of the foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2976)
Not associated with this disease:
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (ORPHA:2976)