Phenotypes associated with the disease Atelosteogenesis type III (ORPHA:56305):
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Short tubular bones of the hand (HP:0001248): Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Knee dislocation (HP:0004976). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Distal tapering femur (HP:0006408). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- Vertebral hypoplasia (HP:0008417): Small, underdeveloped vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:56305)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Hand clenching (HP:0001188): An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Ulnar deviation of the wrist (HP:0003049). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Absent humerus (HP:0003862): Missing humerus bone associated with congenital failure of development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Epiphyseal stippling of the humerus (HP:0003902): The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Thoracolumbar kyphosis (HP:0005619): Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Abnormal cervical curvature (HP:0005905): The presence of an abnormal curvature of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Club-shaped distal femur (HP:0006384): An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)
- Laryngotracheomalacia (HP:0008755). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:56305)