| HPO |
HP:0000175 |
Cleft palate |
"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] |
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. |
HP:0000202, HP:0100737 |
| HPO |
HP:0003388 |
Easy fatigability |
"Increased susceptibility to fatigue." [HPO:probinson] |
Fatigue describes the inability to continue performing a task after multiple repetitions. |
HP:0004302, HP:0012638 |
| HPO |
HP:0003376 |
Steppage gait |
"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." [HPO:probinson, PMID:27770207] |
— |
HP:0001288 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0003557 |
Increased variability in muscle fiber diameter |
"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
This finding can be demonstrated by muscle biopsy. |
HP:0012084 |
| HPO |
HP:0001284 |
Areflexia |
"Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). |
HP:0001315 |
| HPO |
HP:0001283 |
Bulbar palsy |
"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
— |
HP:0001324, HP:0012638 |
| HPO |
HP:0003306 |
Spinal rigidity |
"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [HPO:probinson, PMID:11601420, PMID:2246660] |
— |
HP:0000925 |
| HPO |
HP:0003445 |
EMG: neuropathic changes |
"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [HPO:probinson] |
This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. |
HP:0003457 |
| HPO |
HP:0003707 |
Calf muscle pseudohypertrophy |
"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [HPO:probinson] |
Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. |
HP:0001430 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0002540 |
Inability to walk |
"Incapability to ambulate." [HPO:probinson] |
— |
HP:0001288 |
| HPO |
HP:0002058 |
Myopathic facies |
"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] |
— |
HP:0004673 |
| HPO |
HP:0002515 |
Waddling gait |
"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] |
— |
HP:0001288 |
| HPO |
HP:0003307 |
Hyperlordosis |
"Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0012036 |
Sternocleidomastoid amyotrophy |
"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [HPO:probinson] |
— |
HP:0003202 |
| HPO |
HP:0003458 |
EMG: myopathic abnormalities |
"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
— |
HP:0003198, HP:0003457 |
| HPO |
HP:0001260 |
Dysarthria |
"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
— |
HP:0002167 |
| HPO |
HP:0002747 |
Respiratory insufficiency due to muscle weakness |
— |
— |
HP:0002093, HP:0004347 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0001188 |
Hand clenching |
"An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." [HPO:sdoelken, PMID:10085502] |
Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. |
HP:0005922 |
| HPO |
HP:0001547 |
Abnormal rib cage morphology |
"A morphological anomaly of the rib cage." [HPO:probinson] |
— |
HP:0000765 |
| HPO |
HP:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |
| HPO |
HP:0002104 |
Apnea |
"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
— |
HP:0002793 |
| HPO |
HP:0003805 |
Rimmed vacuoles |
"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [HPO:probinson] |
Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. |
HP:0004303 |