Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge.
Definition. This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely.
Williams syndrome is a rare genetic disorder with congenital heart disease, distinctive facial features (elfin-like faces), hypercalcemia, neurodevelopmental, and behavioral deficits.
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions.
Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.
Tests for Williams syndrome include: Blood pressure check. Genetic testing, such as a blood test for a missing piece of chromosome 7 (FISH test or microarray) Urine and blood tests for calcium level.
Harlequin syndrome is a rare dysautonomic syndrome caused by the unilateral blockade of the T2-T3 fibers carrying sudomotor and vasomotor supply to the face. It results in hemifacial discoloration with half of the flushed hyperemic face sharply differentiated in the midline from the other pale half.
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably.
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
Growth retardation begins during fetal development. Symptoms of Leprechaunism may include short arms and legs, large hands, an elfin-like face, sunken cheeks, a pointed chin, a flat broad nose, low-set ears, and widely spaced eyes.
The personality of individuals with Williams syndrome involves high sociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations.
Elfin (Elven) facies is the form of facies in which the patient has facial characteristics like those traditionally associated with elves. It is characterized by a prominent forehead, widely spaced eyes, an upturned nose, an underdeveloped mandible, dental hypoplasia, and patulous lips.
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
/ (ˈɛlfɪʃ) / adjective. of, relating to, or like an elf or elves; charmingly mischievous or sprightly; impish.
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures.
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
Clinical Description. Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
Causes. Blushing is a normal body response that may occur when you are embarrassed, angry, excited, or experiencing another strong emotion. Flushing of the face may be associated with certain medical conditions, such as: High fever.
Generalised hyperhidrosis may also occur due to dysregulation of the autonomic nervous system, or neurological disorders such as Parkinson's disease or spinal cord injury.
Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs.
Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones. It is characterized by deformities of the skull, face, teeth, and limbs. Apert syndrome occurs in one out of every 65,000 to 88,000 births.
Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge.
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss.