Pfeiffer syndrome is a genetic disorder that results from mutations in FGFR1 and FGFR2 genes, with the abnormal gene inherited from either parent or the result of a new mutation. Read more: What Causes Pfeiffer Syndrome? Article
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Related Disease Conditions
What Is the Mortality Rate of RSV in Babies?
The survival rate of respiratory syncytial virus (RSV) in infants depends on the child’s immunological status. While healthier children have a lower mortality rate, higher-risk babies have a greater chance of developing complications.
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
Stillbirth (Stillborn Baby)
About 1% of pregnancies overall result in stillbirth, meaning that there are about 24,000 stillborn births each year in the U.S. A number of diseases and conditions as well as problems with the pregnancy or health of the mother can all be causes of stillbirth. The most common symptom of stillbirth is not feeling the baby moving or kicking.
Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis and other birth defects. There are three subtypes of Pfeiffer syndrome. People with type I usually have a normal lifespan and typical intelligence. Types II and II cause more severe birth defects that can affect brain development and function. Signs and symptoms of Pfeiffer syndrome include a high forehead, prominent lower jaw, protrusion of the eyes, beaked nose, and short fingers and toes.
What Causes Myoclonic Seizures in Babies?
Epileptic syndromes that cause myoclonic seizures usually begin in early childhood, and last throughout life, though milder forms may improve with adulthood. Doose syndrome (myoclonic-atonic epilepsy), Dravet syndrome (severe myoclonic epilepsy of infancy [SMEI]) and Lennox-Gastaut syndrome are all childhood epilepsy syndromes that may cause seizures in babies and toddlers.
Can You Deliver a Breech Baby?
Breech presentation is when the fetus (unborn child) is placed inside the womb with the buttocks or feet closest to the cervix (mouth of the uterus), which is unlike the usual when the head is closest to the cervix. A breech presentation occurs in 3-4% of all deliveries.
Shaken Baby Syndrome (Abusive Head Trauma)
Shaken baby syndrome, or abusive head trauma, is the condition that describes the symptoms and signs that result from the violent shaking of an infant. These symptoms and signs include bruising, vomiting, poor feeding, seizures, head trauma, and hemorrhages of the retina. Shaken baby syndrome treatment involves removing the infant from the household where the abuse occurred and providing supportive care for the child's injuries.
What Causes a Breech Baby?
A breech position or breech baby means that the baby’s position inside the uterus is such that his feet or buttocks are near the uterine mouth. The baby generally has enough room inside the uterus to change its position. By 36 weeks of pregnancy, most babies are in the head-down position, which is the best and safest position for delivery.
Do Babies With Harlequin Survive?
Harlequin ichthyosis is a rare congenital disease that affects the skin of nearly 1 in 500,000 people. Around seven babies annually are diagnosed with this condition in the United States.