What is dysmorphic development?
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect.
What is a syndromic disorder?
The traditional definition of syndromic ASD is a disorder with a clinically defined pattern of somatic abnormalities and a neurobehavioral phenotype that may include ASD. The diagnosis is typically confirmed by targeted genetic testing, eg, for trisomy 21 or fragile X syndrome (FXS).
What causes dysmorphic features?
Dysmorphic Features. Dysmorphic features may result from a perturbation of human development. 9 This perturbation can be a direct effect of a genetic mutation or can indirectly involve a genetic disturbance, such as in the case of gestational exposure to a teratogen.
What are dysmorphic facial features?
The dysmorphic facial features primarily involve the periocular structures. These include hypertelorism, ptosis, epicanthal folds, strabismus and upslanted palpebral fissures. Systemic Features: Septal defects involving both the atrium and the ventricle are consistently present.
What is the meaning of dysmorphic?
Meaning of dysmorphia in English a condition in which part of the body is a different shape from normal: The disorder is characterized by distinctive facial dysmorphia and cardiac defects. (also body dysmorphia)
What are examples of dysmorphic features?
Dysmorphic facial features including arched eyebrows, broad nasal root, low set ears, downward slanting eyes, epichantal folds, strabismus, and myopathic face were noticed.
What is syndromic and non-syndromic autism?
Syndromic autisms are caused by mutations in single genes and are manifested within the context of neurological syndromes, such as Fragile X Syndrome. In the last decade, genetic analyses of non-syndromic autism families revealed a number of genes that are linked to this class of autism.
What’s the difference between syndromic and Nonsyndromic?
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body.
What does dysmorphic mean?
/dɪsˈmɔː.fɪk/ relating to a condition in which part of the body is a different shape from normal: The patients’ degree of anatomical abnormality – or dysmorphic features – were assessed from photographs.
What does dysmorphic mean in medical terms?
Dysmorphic feature: A body characteristic that is abnormally formed. A malformed ear, for example, is a dysmorphic feature.