| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0002375 |
Hypokinesia |
"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] |
— |
HP:0002374 |
| HPO |
HP:0005855 |
Multiple prenatal fractures |
"The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] |
— |
HP:0002659 |
| HPO |
HP:0006829 |
Severe muscular hypotonia |
"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
— |
HP:0001252 |
| 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: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:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0001622 |
Premature birth |
"The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] |
— |
HP:0001197 |
| 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:0000602 |
Ophthalmoplegia |
"Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] |
— |
HP:0000597 |
| 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:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| 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:0002878 |
Respiratory failure |
"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] |
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). |
HP:0002093 |
| HPO |
HP:0000765 |
Abnormal thorax morphology |
"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:probinson] |
— |
HP:0009121 |
| 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:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |
| 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:0002355 |
Difficulty walking |
"Reduced ability to walk (ambulate)." [HPO:probinson] |
— |
HP:0001288, HP:0004302 |
| HPO |
HP:0003202 |
Skeletal muscle atrophy |
"The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] |
— |
HP:0030236 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| 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: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: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 |