| HPO |
HP:0002376 |
Developmental regression |
"Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] |
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. |
HP:0012759 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0002216 |
Premature graying of hair |
"Development of gray hair at a younger than normal age." [HPO:probinson] |
— |
HP:0007495, HP:0009887 |
| HPO |
HP:0002780 |
Bronchomalacia |
"Weakness or softness of the cartilage in the walls of the bronchial tubes." [PMID:15764786] |
— |
HP:0025426 |
| HPO |
HP:0001518 |
Small for gestational age |
"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] |
— |
HP:0004325 |
| HPO |
HP:0005301 |
Persistent left superior vena cava |
"A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480] |
— |
HP:0025575 |
| HPO |
HP:0000664 |
Synophrys |
"Meeting of the medial eyebrows in the midline." [PMID:19125427] |
— |
HP:0000534, HP:0002219 |
| 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:0000520 |
Proptosis |
"An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, PMID:19125427] |
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. |
HP:0100886 |
| 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 |