| HPO |
HP:0000098 |
Tall stature |
"A height above that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0000002 |
| 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:0001561 |
Polyhydramnios |
"The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] |
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. |
HP:0001560 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000465 |
Webbed neck |
"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, PMID:24523736] |
— |
HP:0000464 |
| HPO |
HP:0003212 |
Increased circulating IgE level |
"An abnormally increased overall level of immunoglobulin E in blood." [HPO:probinson] |
— |
HP:0010702, HP:0410241 |
| HPO |
HP:0000303 |
Mandibular prognathia |
"Abnormal prominence of the chin related to increased length of the mandible." [HPO:probinson] |
— |
HP:0000277, HP:0000306 |
| HPO |
HP:0001274 |
Agenesis of corpus callosum |
"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
— |
HP:0007370 |
| HPO |
HP:0000126 |
Hydronephrosis |
"Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] |
Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. |
HP:0010946 |
| HPO |
HP:0001252 |
Hypotonia |
"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198] |
Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. |
HP:0003808 |
| 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:0000470 |
Short neck |
"Diminished length of the neck." [HPO:probinson] |
— |
HP:0000464, HP:0003319 |
| HPO |
HP:0001792 |
Small nail |
"A nail that is diminished in length and width, i.e., underdeveloped nail." [HPO:probinson, PMID:19125433] |
— |
HP:0008386 |
| HPO |
HP:0011304 |
Broad thumb |
"Increased thumb width without increased dorso-ventral dimension." [PMID:19125433] |
Note that this term should not be used for thumbs that meet the definition for Macrodactyly. |
HP:0009602, HP:0009768 |
| HPO |
HP:0000154 |
Wide mouth |
"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. |
HP:0011337 |
| HPO |
HP:0001744 |
Splenomegaly |
"Abnormal increased size of the spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408 |
| HPO |
HP:0001638 |
Cardiomyopathy |
"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, PMID:17916581] |
— |
HP:0001637 |
| HPO |
HP:0001374 |
Congenital hip dislocation |
— |
— |
HP:0002827 |
| HPO |
HP:0000072 |
Hydroureter |
"The distention of the ureter with urine." [HPO:probinson, PMID:33085364] |
— |
HP:0025633 |
| HPO |
HP:0001748 |
Polysplenia |
"Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] |
— |
HP:0009799 |
| HPO |
HP:0002164 |
Nail dysplasia |
"The presence of developmental dysplasia of the nail." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0000286 |
Epicanthus |
"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] |
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. |
HP:0000492 |
| HPO |
HP:0002948 |
Vertebral fusion |
"A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson] |
— |
HP:0003422, HP:0100240 |
| HPO |
HP:0006101 |
Finger syndactyly |
"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] |
— |
HP:0001159 |