| HPO |
HP:0003198 |
Myopathy |
"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] |
The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. |
HP:0011805 |
| HPO |
HP:0000275 |
Narrow face |
"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] |
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. |
HP:0000274 |
| HPO |
HP:0003307 |
Hyperlordosis |
"Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] |
— |
HP:0010674 |
| 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:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0001561 |
Polyhydramnios |
"The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] |
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. |
HP:0001560 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0002970 |
Genu varum |
"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson] |
— |
HP:0002815, HP:0002979 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0030200 |
Fatiguable weakness of proximal limb muscles |
"A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] |
— |
HP:0030197 |
| HPO |
HP:0002877 |
Nocturnal hypoventilation |
"An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide." [PMID:20308760] |
— |
HP:0002791 |
| HPO |
HP:0030198 |
Fatigable weakness of distal limb muscles |
"A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] |
— |
HP:0030197 |
| HPO |
HP:0002827 |
Hip dislocation |
"Displacement of the femur from its normal location in the hip joint." [HPO:probinson] |
— |
HP:0001384, HP:0030311 |
| HPO |
HP:0002804 |
Arthrogryposis multiplex congenita |
"Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160] |
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. |
HP:0002803 |
| HPO |
HP:0003798 |
Nemaline bodies |
"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] |
This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). |
HP:0100303 |
| HPO |
HP:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| 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:0003803 |
Type 1 muscle fiber predominance |
"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] |
This finding is demonstrated by muscle biopsy. |
HP:0033684 |
| HPO |
HP:0009027 |
Foot dorsiflexor weakness |
"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." [HPO:probinson] |
Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. |
HP:0003690 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| 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:0001349 |
Facial diplegia |
"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson] |
— |
HP:0010628 |
| HPO |
HP:0000470 |
Short neck |
"Diminished length of the neck." [HPO:probinson] |
— |
HP:0000464, HP:0003319 |
| HPO |
HP:0003325 |
Limb-girdle muscle weakness |
"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] |
— |
HP:0001324, HP:0009127 |
| HPO |
HP:0030196 |
Fatigable weakness of respiratory muscles |
"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
— |
HP:0003473 |