| HPO |
HP:0001230 |
Broad metacarpals |
"Abnormally broad metacarpal bones." [HPO:probinson] |
— |
HP:0005916 |
| HPO |
HP:0001650 |
Aortic valve stenosis |
"The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] |
Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. |
HP:0031652 |
| HPO |
HP:0001642 |
Pulmonic stenosis |
"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] |
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. |
HP:0031654 |
| HPO |
HP:0000618 |
Blindness |
"Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [DDD:gblack, PMID:28779882] |
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. |
HP:0007663 |
| HPO |
HP:0009768 |
Broad phalanges of the hand |
"Increased width of the phalanges of the hand." [HPO:curators] |
— |
HP:0001500, HP:0005918, HP:0006009, HP:0040070 |
| HPO |
HP:0003508 |
Proportionate short stature |
"A kind of short stature in which different regions of the body are shortened to a comparable extent." [HPO:probinson] |
— |
HP:0004322 |
| HPO |
HP:0000586 |
Shallow orbits |
"Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] |
— |
HP:0000520, HP:3000030 |
| HPO |
HP:0001072 |
Thickened skin |
"Laminar thickening of skin." [HPO:sdoelken] |
— |
HP:0011121 |
| HPO |
HP:0004933 |
Ascending aortic dissection |
"A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. |
HP:0002647, HP:0031784 |
| HPO |
HP:0011222 |
Depressed glabella |
"Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [HPO:probinson, PMID:19125436] |
The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. |
HP:0002056 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0012019 |
Lens luxation |
"Complete dislocation of the lens of the eye." [HPO:probinson] |
— |
HP:0001083 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0002682 |
Broad skull |
"Increased width of the skull." [HPO:probinson] |
— |
HP:0002648 |
| HPO |
HP:0000594 |
Shallow anterior chamber |
"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson] |
— |
HP:0000593 |
| HPO |
HP:0000885 |
Broad ribs |
"Increased width of ribs" [HPO:probinson] |
— |
HP:0000772 |
| HPO |
HP:0000391 |
Thickened helices |
"Increased thickness of the helix of the ear." [HPO:probinson] |
— |
HP:0011039 |
| HPO |
HP:0001169 |
Broad palm |
"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [HPO:probinson, PMID:19125433] |
Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). |
HP:0100871 |
| HPO |
HP:0000248 |
Brachycephaly |
"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, PMID:19125436] |
Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. |
HP:0002648 |
| HPO |
HP:0010049 |
Short metacarpal |
"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [PMID:19125433] |
Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. |
HP:0005914 |
| HPO |
HP:0005830 |
Flexion contracture of toe |
"One or more bent (flexed) toe joints that cannot be straightened actively or passively." [HPO:probinson] |
— |
HP:0001780, HP:0008366, HP:0030044, HP:0100492 |
| HPO |
HP:0001635 |
Congestive heart failure |
"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] |
— |
HP:0011025 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0002987 |
Elbow flexion contracture |
"A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson] |
— |
HP:0002996, HP:0100360 |
| HPO |
HP:0010743 |
Short metatarsal |
"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [HPO:probinson, PMID:19125433] |
This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. |
HP:0001964, HP:0003026 |