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Young–Simpson Syndrome
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. Other symptoms include transient hypothyroidism, macular degeneration, and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by blepharophimosis, ptosis, and intellectual disabilities. These disorders usually follow either autosomal recessive, autosomal domi ..., showing that it is quite difficult to diagnose the correct condition based on the symptoms present. Some doctors therefore consider these syndromes to be the same. Signs and symptoms Ohdo s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothyroidism
Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as poor ability to tolerate cold, a feeling of tiredness, constipation, slow heart rate, depression, and weight gain. Occasionally there may be swelling of the front part of the neck due to goiter. Untreated cases of hypothyroidism during pregnancy can lead to delays in growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, too little iodine in the diet is the most common cause of hypothyroidism. Hashimoto's thyroiditis is the most common cause of hypothyroidism in countries with sufficient dietary iodine. Less common causes include previous treatment with radioactive iodine, injury to the hypothalamus or the anterior pituitary gland, certain medications, a lack of a functioning thyroid at bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Defects
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic conditi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Face
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely. Structure The front of the human head is called the face. It includes several distinct areas, of which the main features are: *The forehead, comprising the skin beneath the hairline, bordered laterally by the temples and inferiorly by eyebrows and ears *The eyes, sitting in the orbit and protected by eyelids and eyelashes * The distinctive human nose shape, nostrils, and nasal septum *The cheeks, covering the maxilla and mandibula (or jaw), the extremity of which is the chin *The mouth, with the upper lip divided by the philtrum, sometimes revealing the teeth Facial appearance is vital for human recognition and communication. Facial muscles in humans allow expression of emotions. The face is itself a highly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphism
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an im ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryptorchidism
Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional. Cryptorchidism is distinct from monorchism, the condition of having only one testicle. Though the condition may occur on one or both sides, it more commonly affects the right testis. A testis absent from the normal scrotal position may be: # Anywhere along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mental Retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and beh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Postnatal
The postpartum (or postnatal) period begins after childbirth and is typically considered to end within 6 weeks as the mother's body, including hormone levels and uterus size, returns to a non-pregnant state. The terms puerperium, puerperal period, or immediate postpartum period are commonly used to refer to the first six weeks following childbirth. The World Health Organization (WHO) describes the postnatal period as the most critical and yet the most neglected phase in the lives of mothers and babies; most maternal and infant mortality, newborn deaths occur during this period. In scientific literature, the term is commonly abbreviated to P''x'', where ''x'' is a number; for example, "day P5" should be read as "the fifth day after birth". This is not to be confused with the medical nomenclature that uses G P to stand for number and outcomes of pregnancy (gravidity and parity). A female giving birth in a hospital may leave as soon as they are medically stable, which can be as ea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Retardation
Delayed milestone, also called developmental delays, is used to describe the condition where a child does not reach one of these stages at the expected age. However, in most cases, a wide variety of ages can be considered normal, and not a cause for medical concern. Milestones are often measured using percentiles, and for many milestones a value between the 5th and 95th percentile does not require intervention, though values towards the edges of that range can be associated with other medical conditions. It is not possible to treat. It has been suggested that measurement of posture sway may be an early indicator. References External links - Information for parents on early childhood development and developmental disabilities "Recognizing Developmental Delays in Children" WebMD WebMD is an American corporation known primarily as an online publisher of news and information pertaining to human health and well-being. The site includes information pertaining to drugs. It is one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macular Degeneration
Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur. Macular degeneration typically occurs in older people. Genetic factors and smoking also play a role. It is due to damage to the macula of the retina. Diagnosis is by a complete eye exam. The severity is divided into early, intermediate, and late types. The late type is additionally divided into "dry" and "wet" forms with the dry form making up 90% of cases. The difference between the two forms is the change of macula. Those with dry form AMD have drusen, ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torticollis
Torticollis, also known as wry neck, is a dystonic condition defined by an abnormal, asymmetrical head or neck position, which may be due to a variety of causes. The term ''torticollis'' is derived from the Latin words ''tortus, meaning "twisted"'' and ''collum, meaning "neck."'' The most common case has no obvious cause, and the pain and difficulty with turning the head usually goes away after a few days, even without treatment in adults. Signs and symptoms Torticollis is a fixed or dynamic tilt, rotation, with flexion or extension of the head and/or neck. The type of torticollis can be described depending on the positions of the head and neck. * laterocollis: the head is tipped toward the shoulder * rotational torticollis: the head rotates along the longitudinal axis * anterocollis: forward flexion of the head and neck * retrocollis: hyperextension of head and neck backward A combination of these movements may often be observed. Torticollis can be a disorder in itself as wel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
