Phenotypes associated with the disease Heart-hand syndrome type 2 (ORPHA:1350):
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- 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: Very frequent (HP:0040281). (ORPHA:1350)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Abnormal shoulder morphology (HP:0003043): An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1350)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1350)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1350)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1350)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Asymmetry of the thorax (HP:0001555): Lack of symmetry between the left and right halves of the thorax. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Anterior creases of earlobe (HP:0009908): Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Hemiatrophy (HP:0100556): Undergrowth of the limbs that affects only one side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1350)
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1350)