From HPO
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
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).
Hammertoe- MedGen UID:
- 209712
- •Concept ID:
- C1136179
- •
- Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Upper limb muscle weakness- MedGen UID:
- 305607
- •Concept ID:
- C1698196
- •
- Finding
Weakness of the muscles of the arms.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Axonal degeneration- MedGen UID:
- 332464
- •Concept ID:
- C1837496
- •
- Finding
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Abnormal cranial nerve morphology- MedGen UID:
- 344302
- •Concept ID:
- C1854510
- •
- Anatomical Abnormality
Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Decreased motor nerve conduction velocity- MedGen UID:
- 388130
- •Concept ID:
- C1858729
- •
- Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Decreased number of large peripheral myelinated nerve fibers- MedGen UID:
- 395303
- •Concept ID:
- C1859606
- •
- Finding
A reduced number of large myelinated nerve fibers.
Basal lamina onion bulb formation- MedGen UID:
- 401045
- •Concept ID:
- C1866637
- •
- Finding
A type of onion bulb formation prominently affecting the area of the basal lamina.
Segmental peripheral demyelination- MedGen UID:
- 870491
- •Concept ID:
- C4024938
- •
- Finding
A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.
Delayed brainstem auditory evoked response conduction time- MedGen UID:
- 870862
- •Concept ID:
- C4025322
- •
- Finding
An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.
Peripheral axonal degeneration- MedGen UID:
- 871339
- •Concept ID:
- C4025830
- •
- Finding
Progressive deterioration of peripheral axons.
Greater auricular nerve thickening- MedGen UID:
- 1815090
- •Concept ID:
- C5706184
- •
- Anatomical Abnormality
Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Tongue fasciculations- MedGen UID:
- 65987
- •Concept ID:
- C0239548
- •
- Finding
Fasciculations or fibrillation affecting the tongue muscle.
Tongue atrophy- MedGen UID:
- 66828
- •Concept ID:
- C0241423
- •
- Finding
Wasting of the tongue.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Abnormal pupillary light reflex- MedGen UID:
- 370954
- •Concept ID:
- C1970591
- •
- Finding
An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation