| 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: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:0003324 |
Generalized muscle weakness |
"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:probinson] |
— |
HP:0001324 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| 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:0003393 |
Thenar muscle atrophy |
"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb." [] |
— |
HP:0009130 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0000160 |
Narrow mouth |
"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. |
HP:0011337 |
| HPO |
HP:0003701 |
Proximal muscle weakness |
"A lack of strength of the proximal muscles." [HPO:probinson] |
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. |
HP:0001324 |
| HPO |
HP:0030319 |
Weakness of facial musculature |
"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] |
— |
HP:0000301 |
| HPO |
HP:0003810 |
Late-onset distal muscle weakness |
— |
— |
HP:0002460 |
| 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:0001533 |
Slender build |
"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson] |
Slender, long-limbed habitus. |
HP:0000098, HP:0004325 |
| 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:0012548 |
Fatty replacement of skeletal muscle |
"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [HPO:probinson, Neuromics:vstraub] |
Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. |
HP:0011805 |
| HPO |
HP:0001883 |
Talipes |
"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken] |
Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. |
HP:0005656 |
| HPO |
HP:0000218 |
High palate |
"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| HPO |
HP:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| HPO |
HP:0003690 |
Limb muscle weakness |
"Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken] |
— |
HP:0001324, HP:0009127 |
| HPO |
HP:0003722 |
Neck flexor weakness |
"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] |
— |
HP:0000467 |
| HPO |
HP:0002359 |
Frequent falls |
— |
— |
HP:0002311, HP:0004302 |
| HPO |
HP:0003593 |
Infantile onset |
"Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] |
Onset of signs or symptoms of disease within the first 12 months of life. |
HP:0410280 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |