| 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: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: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: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:0000431 |
Wide nasal bridge |
"Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, PMID:19152422] |
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. |
HP:0000422 |
| HPO |
HP:0000960 |
Sacral dimple |
"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [HPO:probinson, PMID:28245993] |
— |
HP:0010767, HP:0010781 |
| 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: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: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: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 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0001831 |
Short toe |
"A toe that appears disproportionately short compared to the foot." [HPO:probinson] |
This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. |
HP:0001991, HP:0011927 |
| HPO |
HP:0000437 |
Depressed nasal tip |
"Decreased distance from the nasal tip to the nasal base." [PMID:19152422] |
This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. |
HP:0000436 |
| HPO |
HP:0000445 |
Wide nose |
"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] |
— |
HP:0005105 |
| 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: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:0002019 |
Constipation |
"Infrequent or difficult evacuation of feces." [HPO:probinson] |
— |
HP:0011458 |
| OMIM |
OMIM:605130 |
WIEDEMANN-STEINER SYNDROME; WDSTS |
— |
— |
— |