Phenotypes associated with the disease Congenital syphilis (ORPHA:499009):
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Extramedullary hematopoiesis (HP:0001978): The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Large placenta (HP:0006267): Increased size of the placenta. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Periostitis (HP:0040165): Inflammation of the periosteum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Osteochondrosis (HP:0040188): Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:499009)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- High palate (HP:0000218): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Mulberry molar (HP:0011092): Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Notched primary central incisor (HP:0012413): The presence of a V-shaped indentation (notch) in the primary central incisor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Chorioretinitis (HP:0012424): An inflammation of the choroid and retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Palmoplantar scaling skin (HP:0025524): Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Semilunar tooth (HP:0033782): An incisor with a half-moon shape incisal edge. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Synovitis (HP:0100769). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Hyperplasia of the maxilla (HP:0430028): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:499009)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:499009)