| HPO |
HP:0000830 |
Anterior hypopituitarism |
"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson] |
— |
HP:0040075 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0001680 |
Coarctation of aorta |
"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [HPO:probinson, PMID:23909637] |
Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. |
HP:0001679 |
| HPO |
HP:0004478 |
Ethmoidal encephalocele |
— |
— |
HP:0011817 |
| 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:0031913 |
Rhombencephalosynapsis |
"Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis." [https://orcid.org/0000-0002-3194-8625, PMID:22451504] |
Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome. |
HP:0001317 |
| HPO |
HP:0001328 |
Specific learning disability |
"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] |
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. |
HP:0012759 |
| HPO |
HP:0000826 |
Precocious puberty |
"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] |
— |
HP:0100000 |
| HPO |
HP:0001355 |
Megalencephaly |
"Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [COST:neuromig, HPO:probinson, PMID:28658095] |
— |
HP:0002060 |
| HPO |
HP:0007375 |
Abnormality of the septum pellucidum |
"An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:probinson] |
— |
HP:0002060 |
| HPO |
HP:0009932 |
Single naris |
"The presence of only a single nostril." [PMID:19152422] |
The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. |
HP:0005288 |
| HPO |
HP:0000824 |
Decreased response to growth hormone stimulation test |
"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [HPO:probinson, PMID:25914878] |
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. |
HP:0000830, HP:0032367 |
| HPO |
HP:0001254 |
Lethargy |
"A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] |
— |
HP:0004372 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| HPO |
HP:0040327 |
Abnormal morphology of the olfactory bulb |
"An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell." [HPO:skoehler] |
— |
HP:0100547 |
| HPO |
HP:0006315 |
Solitary median maxillary central incisor |
"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors." [PMID:19125428] |
The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations. |
HP:0011064 |
| 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:0002033 |
Poor suck |
"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:pnrobinson] |
— |
HP:0008872 |
| HPO |
HP:0002451 |
Limb dystonia |
"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] |
— |
HP:0001332 |
| HPO |
HP:0001328 |
Specific learning disability |
"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] |
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. |
HP:0012759 |
| HPO |
HP:0000238 |
Hydrocephalus |
"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |
| HPO |
HP:0012806 |
Proboscis |
"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [HPO:probinson, PMID:19152422] |
A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. |
HP:0005105 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0002013 |
Vomiting |
"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] |
— |
HP:0002017 |
| HPO |
HP:0002465 |
Poor speech |
— |
— |
HP:0002167 |