Total 25 clinical symptoms reported for Congenital afibrinogenemia
Abdominal pain |
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Synonyms:Abdominal pain; Pain in stomach; Stomach pain |
Very frequent |
Abnormal bleeding |
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Synonyms:Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis |
Very frequent |
Abnormal umbilical stump bleeding |
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
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Very frequent |
Abnormality of cardiovascular system morphology |
Any structural anomaly of the heart and great vessels.
Synonyms:Cardiovascular malformations |
Very frequent |
Abnormality of the subungual region |
A lesion located beneath a fingernail or toenail.
|
Very frequent |
Anaphylactic shock |
An acute hypersensitivity reaction due to exposure to a previously encountered antigen.
Synonyms:Anaphylaxis |
Very frequent |
Bruising susceptibility |
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Synonyms:Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising |
Very frequent |
Clubbing of fingers |
Terminal broadening of the fingers (distal phalanges of the fingers).
Synonyms:Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing |
Very frequent |
Cyanosis |
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Synonyms:Blue discoloration of the skin |
Very frequent |
Decreased testicular size |
Reduced volume of the testicle (the male gonad).
Synonyms:Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia |
Very frequent |
Developmental cataract |
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Synonyms:Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral |
Very frequent |
Gingival bleeding |
Hemorrhage affecting the gingiva.
Synonyms:Bleeding gums; Gingival hemorrhage; Gingivorrhagia |
Very frequent |
Hemorrhagic ovarian cyst |
An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.
|
Very frequent |
Internal hemorrhage |
The presence of hemorrhage within the body.
Synonyms:Internal bleeding |
Very frequent |
Left ventricular hypertrophy |
Enlargement or increased size of the heart left ventricle.
Synonyms:Heart left ventricle hypertrophy; Left ventricular wall hypertrophy |
Very frequent |
Loss of consciousness |
Synonyms:Loss of consciousness; Passing out |
Very frequent |
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 |
Very frequent |
Microphthalmia |
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Synonyms:Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos |
Very frequent |
Opisthotonus |
Synonyms:Opisthotonos |
Very frequent |
Prolonged prothrombin time |
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
Synonyms:Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity |
Very frequent |
Right ventricular hypertrophy |
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Synonyms:Heart right ventricle hypertrophy |
Very frequent |
Splenic rupture |
A breach of the capsule of the spleen.
Synonyms:Ruptured spleen; Splenic rupture |
Very frequent |
Subcutaneous hemorrhage |
This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Synonyms:Bleeding below the skin |
Very frequent |
Tachycardia |
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Synonyms:Fast heart rate; Heart racing; Racing heart |
Very frequent |
Volvulus |
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
|
Very frequent |