From HPO
Thumbs, congenital Clasped- MedGen UID:
- 98140
- •Concept ID:
- C0431886
- •
- Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Oral-pharyngeal dysphagia- MedGen UID:
- 120596
- •Concept ID:
- C0267071
- •
- Disease or Syndrome
Difficulty in swallowing due to an abnormality in the mouth or throat.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
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.
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
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.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Brisk reflexes- MedGen UID:
- 382164
- •Concept ID:
- C2673700
- •
- Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Motor axonal neuropathy- MedGen UID:
- 413108
- •Concept ID:
- C2749625
- •
- Disease or Syndrome
Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Multiple joint contractures- MedGen UID:
- 57633
- •Concept ID:
- C0158118
- •
- Acquired Abnormality
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
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.
Generalized muscle weakness- MedGen UID:
- 155433
- •Concept ID:
- C0746674
- •
- Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Generalized amyotrophy- MedGen UID:
- 234650
- •Concept ID:
- C1389113
- •
- Disease or Syndrome
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
Poor head control- MedGen UID:
- 322809
- •Concept ID:
- C1836038
- •
- Finding
Difficulty to maintain correct position of the head while standing or sitting.
Axial hypotonia- MedGen UID:
- 342959
- •Concept ID:
- C1853743
- •
- Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Appendicular hypotonia- MedGen UID:
- 868520
- •Concept ID:
- C4022919
- •
- Finding
Muscular hypotonia of one or more limbs.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Weak cry- MedGen UID:
- 65892
- •Concept ID:
- C0234860
- •
- Finding
Tongue fasciculations- MedGen UID:
- 65987
- •Concept ID:
- C0239548
- •
- Finding
Fasciculations or fibrillation affecting the tongue muscle.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
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).
Abnormal facial shape- MedGen UID:
- 98409
- •Concept ID:
- C0424503
- •
- Finding
An abnormal morphology (form) of the face or its components.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Fetal distress- MedGen UID:
- 5164
- •Concept ID:
- C0015930
- •
- Pathologic Function
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
Oligohydramnios- MedGen UID:
- 86974
- •Concept ID:
- C0079924
- •
- Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Horizontal nystagmus- MedGen UID:
- 124399
- •Concept ID:
- C0271385
- •
- Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Congenital nystagmus- MedGen UID:
- 195995
- •Concept ID:
- C0700501
- •
- Congenital Abnormality
Nystagmus dating from or present at birth.
Gaze-evoked nystagmus- MedGen UID:
- 1808161
- •Concept ID:
- C5574666
- •
- Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Ear malformation
- Growth abnormality