| 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:0002089 |
Pulmonary hypoplasia |
— |
— |
HP:0006703 |
| HPO |
HP:0003327 |
Axial muscle weakness |
"Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] |
— |
HP:0001324 |
| 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:0009025 |
Increased connective tissue |
"The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
— |
HP:0003549 |
| HPO |
HP:0001181 |
Adducted thumb |
"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [PMID:19125433] |
The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. |
HP:0001172 |
| HPO |
HP:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0007514 |
Edema of the dorsum of hands |
"An abnormal accumulation of fluid beneath the skin on the back of the hands." [HPO:probinson] |
— |
HP:0000969 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0001622 |
Premature birth |
"The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] |
— |
HP:0001197 |
| 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:0003202 |
Skeletal muscle atrophy |
"The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] |
— |
HP:0030236 |
| 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:0000054 |
Micropenis |
"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] |
— |
HP:0008736 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0001623 |
Breech presentation |
"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] |
— |
HP:0001787 |
| HPO |
HP:0000602 |
Ophthalmoplegia |
"Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] |
— |
HP:0000597 |
| HPO |
HP:0000883 |
Thin ribs |
"Ribs with a reduced diameter." [HPO:probinson] |
— |
HP:0000772 |
| 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:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| 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: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: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 |