| HPO |
HP:0000232 |
Everted lower lip vermilion |
"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] |
In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. |
HP:0000178, HP:0012472 |
| HPO |
HP:0000752 |
Hyperactivity |
"Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." [ORCID:0000-0002-6713-2943] |
— |
HP:0000708 |
| HPO |
HP:0002317 |
Unsteady gait |
— |
— |
HP:0001288 |
| HPO |
HP:0040082 |
Happy demeanor |
"A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context." [PMID:18830393] |
— |
HP:0100851 |
| 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: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:0000256 |
Macrocephaly |
"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] |
Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. 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 [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. |
HP:0040194 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0004122 |
Midline defect of the nose |
"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:sdoelken] |
— |
HP:0005105 |
| HPO |
HP:0000501 |
Glaucoma |
"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, PMID:11815354] |
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. |
HP:0012373 |
| HPO |
HP:0100258 |
Preaxial polydactyly |
"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
— |
HP:0010442 |
| HPO |
HP:0000431 |
Wide nasal bridge |
"Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, PMID:19152422] |
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. |
HP:0000422 |
| 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:0006951 |
Retrocerebellar cyst |
— |
— |
HP:0002350 |
| HPO |
HP:0000456 |
Bifid nasal tip |
"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, PMID:19152422] |
This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. |
HP:0000436 |
| HPO |
HP:0010806 |
U-Shaped upper lip vermilion |
"Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [PMID:19125428] |
The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). |
HP:0011339 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0001762 |
Talipes equinovarus |
"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson, PMID:32491773] |
Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. |
HP:0001883 |
| HPO |
HP:0001805 |
Onychogryposis |
"Nail that appears thick when viewed on end." [PMID:19125433] |
There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. |
HP:0001597 |
| HPO |
HP:0000204 |
Cleft upper lip |
"A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
— |
HP:0000177, HP:0410030 |
| HPO |
HP:0000455 |
Broad nasal tip |
"Increase in width of the nasal tip." [HPO:probinson, PMID:19152422] |
Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. |
HP:0000436, HP:0000463 |
| HPO |
HP:0032388 |
Periventricular nodular heterotopia |
"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple." [COST:neuromig, PMID:22427329] |
— |
HP:0007165 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| 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:0002084 |
Encephalocele |
"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] |
A congenital gap in the skull that usually results in a protrusion of brain material. |
HP:0002011, HP:0011815 |