Phenotypes associated with the disease Achondroplasia (ORPHA:15):
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:15)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:15)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:15)
- Thoracolumbar kyphosis (HP:0005619): Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:15)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:15)
- Parietal bossing (HP:0000242): Parietal bossing is a marked prominence in the parietal region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Abnormal midface morphology (HP:0000309): An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:15)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Short nasal bridge (HP:0003194): Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Trident hand (HP:0004060): A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Cervical spinal canal stenosis (HP:0008445): An abnormal narrowing of the cervical spinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Short proximal phalanx of finger (HP:0010241): Congenital hypoplasia of one or more proximal phalanx of finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Central sleep apnea (HP:0010536): Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Functional abnormality of the middle ear (HP:0011452): An abnormality of the function of the middle ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Knee joint hypermobility (HP:0045086): The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Hip joint hypermobility (HP:0045087). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:15)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- 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: Occasional (HP:0040283). (ORPHA:15)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Abnormal iliac wing morphology (HP:0011867): An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:15)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:15)