Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes . They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin ; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle.
Description. Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.
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.
Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual.
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16. 3)). Features include a distinct craniofacial phenotype and intellectual disability.
People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum ), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward.
The clinical features of Crouzon syndrome may include: a skull that appears “too tall” and overly flat from the middle part of the face upward. small cheeks and a concave (curved inward) facial profile. a prominent nasal bridge (a “beaked” nose) wide-set, bulging eyes.
A patient with any two of the following signs with high diagnostic potential should be sent to a Marfan specialist: One or more cranial or facial signs including a long lean skull, downward slanted eyes, a receding jaw (diagnostic accuracy 0.93)
MalaCards based summary: Taylor's Syndrome, also known as pelvic congestion syndrome, is related to interstitial cystitis and paine syndrome, and has symptoms including pain and other symptoms associated with female genital organs, mittelschmerz and unspecified symptom associated with female genital organs.
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of ...
Clinical Description
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
Weight Gain or Lack of Exercise.
An increase in your weight or leading a more sedentary lifestyle may cause your double chin to become more prominent.
The most common cause of a double chin is substantial weight gain and this physical trait is often associated with obesity. A diet high in calories and fat can contribute to a double chin. The condition is also caused by the ageing process, when the skin loses its elasticity, causing facial features to sag.
Diet and weight
While weight gain is not always the cause of a double chin, it can contribute to it. A diet high in calories, processed foods, and unhealthful fats may influence weight gain and a double chin as well.
Summary. Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.
Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.
Costello syndrome is a rare genetic condition that affects about 300 people in the world. Common features include: Congenital heart disease. Characteristic facial features. Skeletal abnormalities.
Sotos syndrome (also known as cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.
Frequency. Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss.
People with the early-onset (severe) form usually live for 10 to 20 years. People with the late-onset (mild) form usually live 20 to 60 years.
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. Glycosaminoglycans are long chains of sugars (carbohydrates) in each of our cells.
Prominent, Thick Eyebrows | The eyebrows are typically larger in size than average and have more abundant hair. As the child ages, the eyebrows thicken further and may converge. Full Lips & Nose | Typically a narrow upper lip and unusually full lower lip. The nose is typically larger than average.
People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles.