| HPO |
HP:0012510 |
Extra-axial cerebrospinal fluid accumulation |
"An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, PMID:22327705, PMID:23838695] |
— |
HP:0002921 |
| HPO |
HP:0010557 |
Overlapping fingers |
"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [HPO:probinson, PMID:19125433] |
Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. |
HP:0004097, HP:0005922 |
| HPO |
HP:0000470 |
Short neck |
"Diminished length of the neck." [HPO:probinson] |
— |
HP:0000464, HP:0003319 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0000218 |
High palate |
"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| 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:0002643 |
Neonatal respiratory distress |
"Respiratory difficulty as newborn." [HPO:probinson] |
— |
HP:0002093 |
| HPO |
HP:0003819 |
Death in childhood |
"Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] |
previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal)) |
HP:0011420 |
| 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:0000160 |
Narrow mouth |
"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased 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 microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. |
HP:0011337 |
| HPO |
HP:0000341 |
Narrow forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] |
A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. |
HP:0000290 |
| 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:0001998 |
Neonatal hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0002162 |
Low posterior hairline |
"Hair on the neck extends more inferiorly than usual." [PMID:19125436] |
This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. |
HP:0000464, HP:0030141 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0000742 |
Self-mutilation |
— |
— |
HP:0100716 |
| HPO |
HP:0001873 |
Thrombocytopenia |
"A reduction in the number of circulating thrombocytes." [HPO:probinson] |
Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). |
HP:0011873 |
| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0004325 |
Decreased body weight |
"Abnormally low body weight." [] |
— |
HP:0004323 |
| HPO |
HP:0032210 |
Decreased circulating free T3 |
"A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [] |
— |
HP:0032209 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |