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A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide.
Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
HEC or hec may refer to:
Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF).
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum does not fully form, and the fourth ventricle and space behind the cerebellum are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to mental health problems.
During heart development of a human embryo, the single primitive atrium becomes divided into right and left by a septum, the septum primum. The septum primum grows downward into the single atrium.
Endocardial fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger. It may also be considered a reaction to stress, not necessarily a specific disease.
In the developing heart, the atria are initially open to each other, with the opening known as the primary interatrial foramen or ostium primum. The foramen lies beneath the edge of septum primum and the endocardial cushions. It progressively decreases in size as the septum grows downwards, and disappears with the formation of the atrial septum.
The proper development of the atrioventricular canal into its prospective components to create a clear division between the four compartments of the heart and ensure proper blood movement through the heart, are essential for proper heart function. When this process does not happen correctly, a child will develop atrioventricular canal defect which occurs in 2 out of every 10,000 births. It also has a correlation with Down syndrome because 20% of children with Down syndrome have atrioventricular canal disease as well. This is a very serious condition and surgery is necessary within the first six months of life for a child. Half of the children who are untreated with this condition die during their first year due to heart failure or pneumonia.
Efe or EFE may refer to:
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.
Neonatal lupuserythematosus is an autoimmune disease in an infant born to a mother with anti-Ro/SSA and with or without anti-La/SSB antibodies. The disease most commonly presents with a rash resembling subacute cutaneous lupus erythematosus and can have systemic abnormalities such as complete heart block or hepatosplenomegaly. Neonatal lupus is usually benign and self-limited. Many of the clinical manifestations are transient, but certain heart problems can be permanent. Diagnosis is based on maternal antibodies and clinical manifestations. Treatment and management is mainly supportive and focused on preventing complete heart block if possible.
Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978. Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome".
References
- ↑ Devi A, Eisenfeld L, Uphoff D, Greenstein R (1995). "New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome)". Am J Med Genet. 56 (1): 62–6. doi:10.1002/ajmg.1320560114. PMID 7747788.
