| HPO |
HP:0010485 |
Hyperextensibility at elbow |
"The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] |
— |
HP:0001382 |
| HPO |
HP:0008897 |
Postnatal growth retardation |
"Slow or limited growth after birth." [DDD:hfirth] |
— |
HP:0001510 |
| 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:0004540 |
Congenital, generalized hypertrichosis |
"A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [HPO:probinson] |
Hypertrichosis refers to excessive, abnormal hairiness. |
HP:0000998 |
| HPO |
HP:0000744 |
Low frustration tolerance |
"The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors." [PMID:21461367] |
— |
HP:0100851 |
| 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:0000219 |
Thin upper lip vermilion |
"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] |
Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. |
HP:0000233, HP:0011339 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0000664 |
Synophrys |
"Meeting of the medial eyebrows in the midline." [PMID:19125427] |
— |
HP:0000534, HP:0002219 |
| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| 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: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:0001273 |
Abnormal corpus callosum morphology |
"Abnormality of the corpus callosum." [HPO:probinson, PMID:21263138] |
The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. |
HP:0002500 |
| 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:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| 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:0012368 |
Flat face |
"Absence of concavity or convexity of the face when viewed in profile." [PMID:19125436] |
A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. |
HP:0001999 |
| HPO |
HP:0006712 |
Aplasia/Hypoplasia of the ribs |
— |
— |
HP:0000772, HP:0006711 |
| HPO |
HP:0000752 |
Hyperactivity |
"Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." [ORCID:0000-0002-6713-2943] |
— |
HP:0000708 |
| HPO |
HP:0005616 |
Accelerated skeletal maturation |
"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| 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:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| 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:0008905 |
Rhizomelia |
"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [HPO:probinson] |
— |
HP:0008873, HP:0009826 |