| HPO |
HP:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| HPO |
HP:0010804 |
Tented upper lip vermilion |
"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [PMID:19125428] |
This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. |
HP:0011339 |
| HPO |
HP:0000098 |
Tall stature |
"A height above that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0000002 |
| 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:0000722 |
Obsessive-compulsive behavior |
"Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson] |
— |
HP:0000708 |
| HPO |
HP:0000739 |
Anxiety |
"Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control." [HPO:probinson, PMID:23902698] |
— |
HP:0100852 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0002714 |
Downturned corners of mouth |
"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, PMID:19125428] |
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). |
HP:0011338 |
| HPO |
HP:0001251 |
Ataxia |
"Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson] |
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. |
HP:0011443 |
| HPO |
HP:0000358 |
Posteriorly rotated ears |
"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)." [HPO:probinson, PMID:19152421] |
Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. |
HP:0000357 |
| HPO |
HP:0000729 |
Autistic behavior |
"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490] |
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. |
HP:0000708 |
| HPO |
HP:0000194 |
Open mouth |
"A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] |
— |
HP:0011338 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0002007 |
Frontal bossing |
"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] |
This is not the same as prominent forehead. |
HP:0000290, HP:0011218 |
| 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:0000718 |
Aggressive behavior |
"Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
— |
HP:0006919 |
| HPO |
HP:0000256 |
Macrocephaly |
"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] |
Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. |
HP:0040194 |
| HPO |
HP:0002360 |
Sleep disturbance |
"An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0004209 |
Clinodactyly of the 5th finger |
"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, PMID:16252026] |
Minor degrees of curvature of the small finger are so common as to be considered normal. |
HP:0009179, HP:0040019 |
| HPO |
HP:0011800 |
Midface retrusion |
"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0000309 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0002370 |
Poor coordination |
— |
— |
HP:0002311 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |