| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0005280 |
Depressed nasal bridge |
"Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422] |
The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. |
HP:0000422 |
| HPO |
HP:0011344 |
Severe global developmental delay |
"A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0000957 |
Cafe-au-lait spot |
"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] |
The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. |
HP:0001034 |
| HPO |
HP:0001085 |
Papilledema |
"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:probinson] |
The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. |
HP:0012795 |
| HPO |
HP:0000275 |
Narrow face |
"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] |
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. |
HP:0000274 |
| HPO |
HP:0002236 |
Frontal upsweep of hair |
"Upward and/or sideward growth of anterior hair." [PMID:19125436] |
— |
HP:0010721 |
| HPO |
HP:0000400 |
Macrotia |
"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] |
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. |
HP:0000377 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000276 |
Long face |
"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] |
Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. |
HP:0100729 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0006934 |
Congenital nystagmus |
"Nystagmus dating from or present at birth." [HPO:curators] |
— |
HP:0000639 |
| HPO |
HP:0004927 |
Pulmonary artery dilatation |
"An abnormal widening of the diameter of the pulmonary artery." [HPO:probinson] |
— |
HP:0030966 |
| HPO |
HP:0004325 |
Decreased body weight |
"Abnormally low body weight." [] |
— |
HP:0004323 |
| HPO |
HP:0007018 |
Attention deficit hyperactivity disorder |
"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
— |
HP:0000736, HP:0000752 |
| HPO |
HP:0002353 |
EEG abnormality |
"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
— |
HP:0030178 |
| HPO |
HP:0000007 |
Autosomal recessive 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0012427 |
Excessive femoral anteversion |
"An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [HPO:probinson, ORCID:0000-0001-5208-3432] |
Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. |
HP:0002823 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0000307 |
Pointed chin |
"A marked tapering of the lower face to the chin." [PMID:19125436] |
The two rami of the mandible meet at an acute angle. |
HP:0000306 |
| HPO |
HP:0031861 |
Decreased heart rate variability |
"Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068] |
— |
HP:0031860 |
| HPO |
HP:0002028 |
Chronic diarrhea |
"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] |
— |
HP:0002014 |
| HPO |
HP:0005280 |
Depressed nasal bridge |
"Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422] |
The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. |
HP:0000422 |
| HPO |
HP:0000733 |
Stereotypy |
"A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson] |
An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. |
HP:0004305 |