• adolescence
  • Age of onset is during infancy in 30-80% of cases, However, the age of onset is often different than the age at which it becomes a concern, e.g., adolescence, when the pectus deformity can progress to become deeper and more apparent. (clinicaladvisor.com)
  • cardiofaciocutaneous syndrome
  • According to Dr. Katherine A. Rauen, MD, PhD who is the author of the NIH article on Cardiofaciocutaneous Syndrome, treatment is mutlifacted, with many focusing on the comorbidities of the condition. (lymphedemapeople.com)
  • What is cardiofaciocutaneous syndrome? (lymphedemapeople.com)
  • Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). (lymphedemapeople.com)
  • In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS). (bireme.br)
  • Karyotype
  • A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism. (medscape.com)
  • Despite the excellent postnatal prognosis, 99% of Turner-syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,X karyotype. (wikipedia.org)
  • developmental
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • infant
  • Early infancy: An infant that is less than one month old may have slanting wide-set eyes, an upper lip with wide peaks and a deep groove, a short neck, low-set ears, and a low backside hairline. (insidetheclinic.com)
  • Infancy: The affected infant may have a nose with a pressed top, a wider base and a rounded tip, as well as noticeable eyes with thick eyelids and a descending slant. (insidetheclinic.com)
  • An infant with this syndrome may have a low birth weight and a small head with many abnormal features, including a round face, small jaw, wide nose, widely separated eyes, crossed eyes ( strabismus ), and abnormally shaped ears set low in the head. (merckmanuals.com)
  • The term "floppy infant syndrome" is used to describe abnormal limpness when an infant is born. (wikipedia.org)
  • Paraphilic infantilism, also known as autonepiophilia, psychosexual infantilism, and adult baby syndrome is a sexual fetish that involves role-playing a regression to an infant-like state. (wikipedia.org)
  • common
  • Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. (bireme.br)
  • Language impairments are more common in Noonan syndrome than in the general population. (thinkgenetic.com)
  • surgical
  • Without intervention, an undescended testicle will usually descend during the first year of life, but to reduce these risks, undescended testes can be brought into the scrotum in infancy by a surgical procedure called an orchiopexy. (wikipedia.org)
  • relatively
  • Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. (wikipedia.org)
  • known
  • Cryptorchidism, hypospadias, testicular cancer and poor semen quality make up the syndrome known as testicular dysgenesis syndrome. (wikipedia.org)
  • Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. (wikipedia.org)