| HPO |
HP:0011220 |
Prominent forehead |
"Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436] |
Not to be confused with frontal bossing. |
HP:0000290 |
| HPO |
HP:0003593 |
Infantile onset |
"Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] |
Onset of signs or symptoms of disease within the first 12 months of life. |
HP:0410280 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0000194 |
Open mouth |
"A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] |
— |
HP:0011338 |
| HPO |
HP:0031936 |
Delayed ability to walk |
"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months." [] |
— |
HP:0002194 |
| 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: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:0100033 |
Tics |
"Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement." [HPO:sdoelken, PMID:20589866] |
Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. |
HP:0004305 |
| HPO |
HP:0000574 |
Thick eyebrow |
"Increased density/number and/or increased diameter of eyebrow hairs." [PMID:19125427] |
Thickness can be regional (medial, middle/central, lateral) or total. |
HP:0000534 |
| HPO |
HP:0002019 |
Constipation |
"Infrequent or difficult evacuation of feces." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0002136 |
Broad-based gait |
"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
— |
HP:0001288 |
| 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: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:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0001760 |
Abnormal foot morphology |
"An abnormality of the skeleton of foot." [HPO:probinson] |
A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. |
HP:0002814 |
| HPO |
HP:0010761 |
Broad columella |
"Increased width of the columella." [PMID:19152422] |
— |
HP:0009929 |
| HPO |
HP:0000253 |
Progressive microcephaly |
"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson] |
— |
HP:0005484 |
| HPO |
HP:0001344 |
Absent speech |
"Complete lack of development of speech and language abilities." [HPO:probinson] |
This term should not be used in very young children. |
HP:0000750 |
| HPO |
HP:0000336 |
Prominent supraorbital ridges |
"Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [PMID:19125436] |
— |
HP:0100538 |
| HPO |
HP:0000687 |
Widely spaced teeth |
"Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428] |
Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. |
HP:0000692 |
| HPO |
HP:0001276 |
Hypertonia |
"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson] |
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. |
HP:0003808 |
| HPO |
HP:0000565 |
Esotropia |
"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson] |
Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. |
HP:0020045, HP:0032012 |
| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |