From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
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.
Clonus- MedGen UID:
- 40341
- •Concept ID:
- C0009024
- •
- Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
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 characterised 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.
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Delayed myelination- MedGen UID:
- 224820
- •Concept ID:
- C1277241
- •
- Finding
Delayed myelination.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
Oculomotor apraxia- MedGen UID:
- 483686
- •Concept ID:
- C3489733
- •
- Disease or Syndrome
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.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
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.
Intention tremor- MedGen UID:
- 1642960
- •Concept ID:
- C4551520
- •
- Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
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.
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.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape- MedGen UID:
- 98409
- •Concept ID:
- C0424503
- •
- Finding
An abnormal morphology (form) of the face or its components.
Abnormality of eye movement- MedGen UID:
- 99227
- •Concept ID:
- C0497202
- •
- Finding
An abnormality in voluntary or involuntary eye movements or their control.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality