Total 29 clinical symptoms reported for Severe congenital nemaline myopathy
| Abnormality of the diaphragm |
Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
Synonyms:Abnormality of the diaphragm; Diaphragm issues; Diaphragmatic defect |
Occasional |
| 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.
Synonyms:Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern |
Occasional |
| Arthrogryposis multiplex congenita |
Multiple congenital contractures in different body areas.
Synonyms:Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures |
Occasional |
| Facial diplegia |
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Synonyms:Bilateral facial weakness; Facial paresis, bilateral |
Occasional |
| 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.
Synonyms:Hypospadia |
Occasional |
| Large fontanelles |
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Synonyms:Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles |
Occasional |
| 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.
Synonyms:Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia |
Occasional |
| 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.
Synonyms:Short penis; Small penis |
Occasional |
| Ophthalmoplegia |
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Synonyms:Eye muscle paralysis; Paralysis of extraocular eye movement |
Occasional |
| Premature birth |
The birth of a baby of less than 37 weeks of gestational age.
Synonyms:Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time |
Occasional |
| Pulmonary hypoplasia |
Synonyms:Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung |
Occasional |
| Thin ribs |
Ribs with a reduced diameter.
Synonyms:Slender ribs; Thin ribs |
Occasional |