Facial Syndromes Round Nose

Facial Syndromes Round Nose
Noonan Syndrome Noonan syndrome is a genetic condition that can affect many parts of your child's body. While symptoms vary widely, they most often include unusual facial features, short stature and heart problems. Early detection and treatment can ease symptoms and prevent complications.
Syndromes Included in the links to the various syndromes are brief descriptions which are intended to inform and are not intended for diagnosis. A geneticist who is a member of an experienced craniofacial team should make a diagnosis. What is a craniofacial difference (disorder)? A craniofacial difference refers to an anomaly of the face and/or the head. Craniofacial differences can result ...
Facial features People with Noonan syndrome have characteristic facial features, particularly during childhood, which change with age and may be insignificant in adult life. In early childhood, ptosis (drooping eyelids), low set ears, short neck, and low hairline are characteristic. The facial features include: All ages Eyes: May be strikingly blue eyes with arched or diamond-shaped eyebrows ...
Genetic disorders can manifest in various parts of the body, including the face. The facial features of individuals affected by genetic disorders often exhibit distinct characteristics that can sometimes be indicative of specific conditions. These facial features can include abnormalities in the size and shape of the eyes, nose, mouth, and ears. For example, individuals with Down syndrome ...
Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things.
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. It is typically inherited in an autosomal dominant manner ...
Face genetic syndromes are conditions arising from alterations in an individual's genetic material, leading to distinctive facial features. These conditions are diverse, ranging from subtle genetic changes to more extensive chromosomal abnormalities. Such genetic variations significantly influence craniofacial development, the formation of the skull and face. The resulting facial variations ...
Craniofacial anomalies - Noonan syndrome It is thought that this syndrome occurs in somewhere between 1/1,000 and 1/ 2,500 newborn babies. The Noonan syndrome features are easier to see at birth and by adulthood they are often very subtle and can easily be missed. What are the features of Noonan syndrome? This is a variable syndrome.
Mar 7, 2025
Examples of Genetic Influence on Facial Traits Some well-known genetic conditions come with recognizable facial features. For example, Down syndrome can cause eyes that slant upwards and a flat nose. Marfan syndrome, however, might make someone's face appear longer than usual.
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Congenital heart defect-round face-developmental delay syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or ...
Dec 10, 2025
Your baby's pediatrician may notice the distinctive skull and face shapes of Saethre-Chotzen syndrome at birth. After examining and measuring your baby's head, the pediatrician will use other tests to rule out other, similar syndromes that also have skull deformities.
Char syndrome is a condition that affects the development of the face, heart, and limbs. Explore symptoms, inheritance, genetics of this condition.
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The round face, small mouth, upwards slanting eyes, and distinct ear and nose structure form the unique appearance of those affected by Down syndrome. This unique assembly of facial characteristics can be the first visual cue for healthcare providers for early detection and intervention.
Craniofacial syndromes are a group of congenital musculoskeletal deformities in the growth of the skull (cranium) and facial bones.
Long-Face Syndrome, or facial hyperdivergence, is a disproportion of facial features by which an elongated face impression is created, even if its dimensions are normal. The said impression may be caused by one of the following factors in isolation or in combination: Vertical maxillary excess (gingival ...
Parry-Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]
The development of a round, plethoric face is common in long-standing significant CS, and a reddening of the skin can appear. Additional symptoms include hirsutism and acne.
Round face with heavy cheeks and prominent forehead, upward slanting eyes, palpebral fissures, epicanthic folds, broad bulbous nose, large dysplastic ears, long and smooth philtrum, down turned ...
Sep 8, 2025
Nasolabial folds are creases in your skin extending from both sides of your nose to the corners of your mouth. They become more prominent and permanent as you age.
Midfacial hypoplasia: Underdevelopment of the middle portion of the face, including the nose, cheekbones, and forehead, can create distinct facial features. Ocular hypertelorism: Widely spaced eyes are a common characteristic of CFND, affecting facial appearance and sometimes vision.
Binder syndrome is a rare congenital disease affecting the face, characterized by a flat, underdeveloped midface and flattened nose. What is Binder syndromeBinder syndrome is a rare congenital disease affecting the face. Also called nasomaxillary hypoplasia or maxilla-facial dysplasia, the condition results in undergrowth of the central face and may include elements of the nose and upper jaw ...
Certain syndromes result in telltale facial anomalies: Apert syndrome: A craniofacial abnormality characterized by a misshapen head, small upper jaw, and fusion of the fingers and toes. Brachycephaly: A birth defect characterized by the disproportionate shortness of the head.
Blue naevi are usually found on the distal extremities (dorsum of hands or feet), buttocks, scalp, and face, although they can occur anywhere on the body. Subungual blue naevi present as blue macules within the lunula or under the nail plate; they originate below the nail matrix and do not cause longitudinal melanonychia.
One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family.
Bell's palsy is a condition that causes temporary facial paralysis. It usually only affects the muscles on one side of your face. It typically lasts a few weeks to three months.
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. [1] The term comes from Latin for "face". [2] As a fifth declension noun, [3] facies can be both singular and plural.
What is a bulbous nose? Sometimes, we come across people who have a nose that is differently shaped, or slightly larger. Though this can be simply a genetic trait, it can also be a medical condition known as "Rhinophyma", also referred to as bulbous nose.
Historically, craniofacial genetic research has understandably focused on identifying the causes of craniofacial anomalies and it has only been within the last 10 years, that there has been a drive to detail the biological basis of normal-range ...
Rhinophyma is a rare skin condition affecting your nose. Learn about the causes, symptoms, and treatment options for this condition.
KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip ...
Down syndrome is a common neurodevelopmental disorder. In fact, it can be easily identified since down syndrome facial features are very recognizable.
What Is Noonan Syndrome? Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child's risk of blood cancer (leukemia). Noonan syndrome is a pretty common condition, affecting 1 in 1,000-2,500 babies. What Are the Signs & Symptoms of Noonan Syndrome? Most children with Noonan syndrome ...
Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." Birth defects of the face and skull (called craniofacial anomalies) are fairly common. They may involve only a specific body part, such as the mouth (cleft lip or cleft palate), or they may be part of a genetic syndrome with many abnormalities ...
Vascular Ehlers-Danlos syndrome (vEDS) is an uncommon genetic disorder that is considered to be the most severe form of Ehlers-Danlos Syndrome (EDS). The main cause of this disease is the mutation in the COL3A1 gene, which disturbs the proper production of type III collagen. This protein is crucial because it can be found all over the human body.
Other symptoms and physical features associated with Seckel syndrome include an abnormally small head (microcephaly); varying degrees of intellectual disability; and/or unusual characteristic facial features including "beak-like" protrusion of the nose.
Newborns with Williams syndrome have characteristic "elfin-like" facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.
While clearly heuristics, such approaches have revealed that many facial GWAS-associated loci contain genes implicated in rare craniofacial syndromes discussed above (Figure 2). For example, the first GWAS locus associated with common facial variation was PAX3, rare variants in which are known to cause Waardenburg syndrome.
Williams syndrome is a rare genetic condition that causes facial characteristics including epicanthal folds at the eyes, large ears, an upturned nose, full cheeks, a wide mouth, a small jaw and small teeth.
Find out about Noonan syndrome, including the features and problems, causes, how it's diagnosed and the treatment and support available.
Craniofacial Anomalies Craniofacial anomalies are a diverse group of deformities in the growth of the head and facial bones. Crouzon Syndrome affects the skull, face, and heart. It is a genetic syndrome, which is due to a mutation on the FGFR2 or FGFR3 gene.
The unique facial features of Down syndrome are well known. They include a flattened face, a flattened nasal bridge (nose), almond-shaped eyes, small ears and a short neck.
Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay.
One of the most well-known chromosomal abnormalities is Down syndrome, caused by trisomy 21, where an individual has an extra copy of chromosome 21. Facial features commonly associated with Down syndrome include a flat facial profile, a small nose with a slightly flattened nasal bridge, and a protruding tongue.
Apr 29, 2025
Sep 11, 2024
FACIAL FEATURES People with Noonan syndrome have characteristic facial features, particularly during childhood, which change with age and may be insignificant in adult life.
Sonoda syndrome is a rare genetic disorder characterized by cranio-facial dysmorphisms, fingerprint abnormalities, intellectual disability, and congenital cardiopathy. [2][3] It has been described in a Japanese family. [4]
However, the clinical features of clown nose-like lesion indicated by metastatic malignancies, genetic cancer predisposition syndromes or primary diseases involving the nasal tip are lacking. In this study, patients with clown nose-like lesion in our clinical practices and from published literatures were collected and reviewed.
Face, Narrow: An apparent reduction in the width of the upper and lower face Face, Round: Facial appearance is more circular than usual, as viewed from the front Face, Square: Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance
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Different facial measures have been applied to facial images obtained from a variety of acquisition systems (2D and 3D). Genes are likely to influence more than one facial trait. For instance, the PAX3 gene is associated with eye to nasion distance, prominence of the nasion and eye width, side walls of the nose, and prominence of nose tip.
Explore a comprehensive list of craniofacial anomalies and conditions, with links to information and resources from FACES to help families understand and navigate care.
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a rare congenital disorder of genetic origin. [1][2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
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