Phenotypes associated with the disease PHAVER syndrome (ORPHA:2876):
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Pterygium (HP:0001059): Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- 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: Very frequent (HP:0040281). (ORPHA:2876)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2876)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- 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: Frequent (HP:0040282). (ORPHA:2876)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- 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:2876)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Aplasia/Hypoplasia of the earlobes (HP:0009906): Absence or underdevelopment of the ear lobes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Broad hallux phalanx (HP:0010059): An increase in width in one or more phalanges of the big toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2876)