| HPO |
HP:0007440 |
Generalized hyperpigmentation |
— |
— |
HP:0000953 |
| 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:0002209 |
Sparse scalp hair |
"Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825] |
Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. |
HP:0008070, HP:0100037 |
| 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:0011358 |
Generalized hypopigmentation of hair |
"Reduced pigmentation of hair diffusely." [DDD:cmoss] |
— |
HP:0005599 |
| HPO |
HP:0002120 |
Cerebral cortical atrophy |
"Atrophy of the cortex of the cerebrum." [HPO:probinson] |
Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. |
HP:0002059, HP:0002538 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| 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:0001903 |
Anemia |
"A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] |
Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. |
HP:0001877 |
| HPO |
HP:0002514 |
Cerebral calcification |
"The presence of calcium deposition within brain structures." [HPO:probinson] |
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. |
HP:0002060, HP:0010766 |
| 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:0005528 |
Bone marrow hypocellularity |
"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [DDD:wouwehand, HPO:probinson] |
— |
HP:0012145 |
| HPO |
HP:0008404 |
Nail dystrophy |
"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700] |
Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. |
HP:0001597 |
| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0002721 |
Immunodeficiency |
"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] |
— |
HP:0010978 |
| HPO |
HP:0001276 |
Hypertonia |
"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson] |
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. |
HP:0003808 |
| HPO |
HP:0001881 |
Abnormal leukocyte morphology |
"An abnormality of leukocytes." [HPO:probinson] |
Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. |
HP:0001871, HP:0010987 |
| HPO |
HP:0002745 |
Oral leukoplakia |
"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, PMID:17944749] |
The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. |
HP:0025125 |
| HPO |
HP:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |
| HPO |
HP:0001321 |
Cerebellar hypoplasia |
"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [HPO:probinson, PMID:26331051, PMID:27160001] |
By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. |
HP:0007360 |
| HPO |
HP:0002664 |
Neoplasm |
"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson] |
The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. |
HP:0000118 |
| HPO |
HP:0004334 |
Dermal atrophy |
"Partial or complete wasting (atrophy) of the skin." [HPO:probinson] |
— |
HP:0008065 |
| 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: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:0001928 |
Abnormality of coagulation |
"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] |
— |
HP:0001871 |