| HPO |
HP:0002553 |
Highly arched eyebrow |
"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [PMID:19125427] |
Most eyebrows have some arch with downturning medially and laterally. |
HP:0000534 |
| HPO |
HP:0000268 |
Dolichocephaly |
"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [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 have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). |
HP:0002648 |
| HPO |
HP:0001357 |
Plagiocephaly |
"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] |
Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. |
HP:0002648 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| 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:0000463 |
Anteverted nares |
"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| HPO |
HP:0000742 |
Self-mutilation |
— |
— |
HP:0100716 |
| 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: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:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0007328 |
Impaired pain sensation |
"Reduced ability to perceive painful stimuli." [HPO:probinson] |
— |
HP:0010832 |
| HPO |
HP:0000430 |
Underdeveloped nasal alae |
"Thinned, deficient, or excessively arched ala nasi." [PMID:19152422] |
The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. |
HP:0000429, HP:0009924 |
| HPO |
HP:0002188 |
Delayed CNS myelination |
"Delayed myelination in the central nervous system." [HPO:probinson] |
A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. |
HP:0011400, HP:0012448 |
| HPO |
HP:0002643 |
Neonatal respiratory distress |
"Respiratory difficulty as newborn." [HPO:probinson] |
— |
HP:0002093 |
| HPO |
HP:0012745 |
Short palpebral fissure |
"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0020062 |
Decreased hemoglobin concentration |
"An abnormal reduction below normal hemoglobin concentration in the circulation." [] |
— |
HP:0020061 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| 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: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:0000824 |
Decreased response to growth hormone stimulation test |
"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [HPO:probinson, PMID:25914878] |
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. |
HP:0000830, HP:0032367 |
| HPO |
HP:0000189 |
Narrow palate |
"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] |
Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. |
HP:0000174 |
| HPO |
HP:0012450 |
Chronic constipation |
"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] |
— |
HP:0002019 |
| HPO |
HP:0001738 |
Exocrine pancreatic insufficiency |
"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] |
— |
HP:0012092 |
| HPO |
HP:0025481 |
Cervical hemivertebrae |
"Absence of one half of the vertebral body in the cervical spine." [] |
— |
HP:0002937 |
| HPO |
HP:0000540 |
Hypermetropia |
"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] |
The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). |
HP:0000539 |