From HPO
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Distal lower limb muscle weakness- MedGen UID:
- 324514
- •Concept ID:
- C1836450
- •
- Finding
Reduced strength of the distal musculature of the legs.
Ankle flexion contracture- MedGen UID:
- 332440
- •Concept ID:
- C1837407
- •
- Anatomical Abnormality
Areflexia of lower limbs- MedGen UID:
- 347285
- •Concept ID:
- C1856694
- •
- Finding
Inability to elicit tendon reflexes in the lower limbs.
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Distal upper limb muscle weakness- MedGen UID:
- 461970
- •Concept ID:
- C3150620
- •
- Finding
Reduced strength of the distal musculature of the arms.
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.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Postural tremor- MedGen UID:
- 66696
- •Concept ID:
- C0234378
- •
- Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Positive Romberg sign- MedGen UID:
- 66017
- •Concept ID:
- C0240914
- •
- Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Peripheral axonal neuropathy- MedGen UID:
- 266071
- •Concept ID:
- C1263857
- •
- Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Distal lower limb amyotrophy- MedGen UID:
- 324515
- •Concept ID:
- C1836451
- •
- Disease or Syndrome
Muscular atrophy of distal leg muscles.
Proximal lower limb amyotrophy- MedGen UID:
- 373171
- •Concept ID:
- C1836767
- •
- Finding
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Calf muscle hypertrophy- MedGen UID:
- 335868
- •Concept ID:
- C1843057
- •
- Finding
Muscle hypertrophy affecting the calf muscles.
Proximal muscle weakness in lower limbs- MedGen UID:
- 356423
- •Concept ID:
- C1866010
- •
- Finding
A lack of strength of the proximal muscles of the legs.
Proximal muscle weakness in upper limbs- MedGen UID:
- 356424
- •Concept ID:
- C1866012
- •
- Finding
A lack of strength of the proximal muscles of the arms.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system