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.
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.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Ulnar claw- MedGen UID:
- 871311
- •Concept ID:
- C4025799
- •
- Congenital Abnormality
An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Steppage gait- MedGen UID:
- 98105
- •Concept ID:
- C0427149
- •
- Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Segmental peripheral demyelination/remyelination- MedGen UID:
- 335873
- •Concept ID:
- C1843077
- •
- Finding
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Onion bulb formation- MedGen UID:
- 376237
- •Concept ID:
- C1847906
- •
- Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Decreased number of peripheral myelinated nerve fibers- MedGen UID:
- 346872
- •Concept ID:
- C1858285
- •
- Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Decreased motor nerve conduction velocity- MedGen UID:
- 388130
- •Concept ID:
- C1858729
- •
- Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
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 amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation