| HPO |
HP:0001627 |
Abnormal heart morphology |
"Any structural anomaly of the heart." [HPO:probinson] |
— |
HP:0030680 |
| HPO |
HP:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0000319 |
Smooth philtrum |
"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] |
There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. |
HP:0000288 |
| HPO |
HP:0009623 |
Proximal placement of thumb |
"Proximal mislocalization of the thumb." [HPO:probinson, PMID:19125433] |
Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. |
HP:0009603 |
| HPO |
HP:0000174 |
Abnormal palate morphology |
"Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson] |
— |
HP:0000163 |
| 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:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000708 |
Behavioral abnormality |
"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] |
— |
HP:0012638 |
| 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:0000589 |
Coloboma |
"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [HPO:probinson] |
— |
HP:0012372 |
| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| 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:0002023 |
Anal atresia |
"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0030260 |
Microphallus |
"Length of penis more than 2 SD below the mean for age accompanied by hypospadias." [HPO:probinson, PMID:23650202] |
Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. |
HP:0008736 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| HPO |
HP:0001388 |
Joint laxity |
"Lack of stability of a joint." [HPO:probinson] |
Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. |
HP:0011729 |
| HPO |
HP:0002719 |
Recurrent infections |
"Increased susceptibility to infections." [HPO:probinson, HPO:skoehler] |
— |
HP:0032101 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0001780 |
Abnormality of toe |
"An anomaly of a toe." [HPO:probinson] |
— |
HP:0001760, HP:0011297 |
| 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:0009890 |
High anterior hairline |
"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [PMID:19125436] |
This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. |
HP:0000599 |
| 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:0012810 |
Wide nasal base |
"Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, PMID:19152422] |
There is a marked difference in width of the nasal base depending on ethnic background. |
HP:0012808 |