Phenotypes associated with the disease Isolated ulnar hemimelia (ORPHA:93320):
- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93320)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Limited elbow movement (HP:0002996). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Abnormality of the radioulnar joints (HP:0003059). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Radial ray deficiency (HP:0006433): Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Short forearm (HP:0005773): Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Ulnar deviated club hands (HP:0006055). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Abnormal upper limb bone morphology (HP:0040070). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93320)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Abnormal humeral head morphology (HP:0003887). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Sclerotic forearm bones (HP:0003967). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Congenital finger flexion contractures (HP:0005879): Multiple bent (flexed) finger joints that cannot be straightened actively or passively. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Limited elbow flexion (HP:0006376). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Limited shoulder movement (HP:0006467): A limitation of the range of movement of the shoulder joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Glenoid fossa hypoplasia (HP:0006633): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Abnormal calcification of the carpal bones (HP:0009164). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Aplasia of the 5th finger (HP:0009238): Absent 5th (little) finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Aplasia of the 4th finger (HP:0009281): Absent 4th finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471): Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Metacarpal synostosis (HP:0009701): Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Upper limb phocomelia (HP:0009813): Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Duplication of phalanx of 3rd finger (HP:0009959): This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Abnormal 3rd metacarpal morphology (HP:0010011): Any abnormality of the third metacarpal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Aplasia of metacarpal bones (HP:0010048): Developmental defect associated with absence of one or more metacarpal bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Curved toe phalanx (HP:0010176): A deviation from the normal straight form of one or more toe phalanges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Spinal dysraphism (HP:0010301): A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Aplasia/Hypoplasia of the 3rd toe (HP:0010331). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Elbow pain (HP:0030835): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Hemiatrophy of upper limb (HP:0100558): Unilateral atrophy (reduction in size) of an arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)
- Abnormality of the humeroulnar joint (HP:0100745): An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93320)