| 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 |
| HPO |
HP:0000657 |
Oculomotor apraxia |
"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, PMID:20615230] |
Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. |
HP:0000496, HP:0002186 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000612 |
Iris coloboma |
"A coloboma of the iris." [HPO:probinson, PMID:19369671] |
— |
HP:0000525, HP:0000589 |
| 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 |
| HPO |
HP:0000426 |
Prominent nasal bridge |
"Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422] |
A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. |
HP:0000422 |
| HPO |
HP:0001696 |
Situs inversus totalis |
"A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] |
— |
HP:0001651, HP:0011534 |
| 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:0001251 |
Ataxia |
"Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson] |
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. |
HP:0011443 |
| HPO |
HP:0000864 |
Abnormality of the hypothalamus-pituitary axis |
"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark] |
— |
HP:0000818 |
| HPO |
HP:0001161 |
Hand polydactyly |
"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] |
— |
HP:0009997, HP:0010442 |
| HPO |
HP:0002126 |
Polymicrogyria |
"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723] |
Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. |
HP:0002536 |
| HPO |
HP:0007370 |
Aplasia/Hypoplasia of the corpus callosum |
"Absence or underdevelopment of the corpus callosum." [HPO:probinson] |
— |
HP:0007364, HP:0033725 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| 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:0002104 |
Apnea |
"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
— |
HP:0002793 |
| 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 |
| HPO |
HP:0001320 |
Cerebellar vermis hypoplasia |
"Underdevelopment of the vermis of cerebellum." [HPO:probinson] |
— |
HP:0001321, HP:0006817 |
| HPO |
HP:0001829 |
Foot polydactyly |
"A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [HPO:probinson] |
— |
HP:0001780, HP:0009136, HP:0010442 |
| HPO |
HP:0004422 |
Biparietal narrowing |
"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] |
— |
HP:0002648 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0002251 |
Aganglionic megacolon |
"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, PMID:17965226] |
Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. |
HP:0004362 |
| 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:0008872 |
Feeding difficulties in infancy |
"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson] |
— |
HP:0011968 |
| HPO |
HP:0000276 |
Long face |
"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] |
Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. |
HP:0100729 |