From HPO
Distal lower limb muscle weakness- MedGen UID:
- 324514
- •Concept ID:
- C1836450
- •
- Finding
Reduced strength of the distal musculature of the legs.
Autoamputation of digits- MedGen UID:
- 343770
- •Concept ID:
- C1852289
- •
- Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
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.
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).
Hypoesthesia- MedGen UID:
- 6974
- •Concept ID:
- C0020580
- •
- Finding
Decreased ability to perceive touch.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
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.
Impaired distal vibration sensation- MedGen UID:
- 381262
- •Concept ID:
- C1853767
- •
- Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
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.
Impaired distal proprioception- MedGen UID:
- 867227
- •Concept ID:
- C4021585
- •
- Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
Intrinsic hand muscle atrophy- MedGen UID:
- 351202
- •Concept ID:
- C1864716
- •
- Finding
Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Acral ulceration- MedGen UID:
- 1648438
- •Concept ID:
- C4732740
- •
- Finding
A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality