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Dysmorphia is a group of genetic defects manifested by an altered appearance of external organs. Structural anomalies may be congenital or appear as the child grows. Dysmorphic changes are sometimes very small, even imperceptible, and sometimes they are visible and annoying.
Characteristics and types of dysmorphia
The main features associated with dysmorphia include diagonal wrinkle, hypertelorism, telecanthus, hypocrisy, hair swirls, and skin eruptions. Dysmorphia it can also show up with incorrect positioning of the eyes or an anomalous shape of the skull.
The following types are distinguished dysmorfii:
- Naked wrinkle – this is the skin fold that covers the paranasal parts of the eye. A person with this type of dysmorphia resembles the mongoid (Asian) or Arctic (Eskimo) race. Diagonal wrinkle often appears in Down’s syndrome, in cat screaming, in premature babies, and accompanies Turner syndrome and Klinefeler syndrome.
- Hypertelorism – this is an anomaly in the structure of the skull consisting in too large a distance between the eyeballs. This type of dysmorphia occurs in Loeys-Dietz syndrome, Edwards, Noonan, Turner syndrome, and in cri du chat or Leopard syndrome.
- Telecanthus – this type of dysmorphia resembles ocular hypertelorism, except that the eyeballs are the same size and the distance between them is correct – only the inner corner of the eye is displaced outwards. This anomaly resembles convergent strabismus.
- Camptodactyly – this dysmorphia is a flexion contracture of one or more fingers.
- Clinodactyly – this type of dysmorphia is a lateral or medial curvature of the finger or toe. Most often, this anomaly affects the smallest finger, which is bent towards the others. This anomaly is often associated with Silver-Russel syndrome, Down syndrome, and Feingold’s syndrome.
- Hypocrisy – a dysmorphic condition where the urethra is on the ventral side of the penis. This defect can cause sexual dysfunction and make it difficult to urinate.
- Cafe au lait stains – these are stains on the skin in the color of coffee and milk (hence the name). This type of dysmorphia appears in type 1 neurofibromatosis, tuberous sclerosis, and in McCune-Albright syndrome.
- Swirls of hair – this is a dysmorphic anomaly arising in the parietal area; is associated with slight disturbances in brain growth in the early stages of fetal development.
A separate group dysmorfii there are dysmorphic changes in the face. These can include drooping eyelids, increased distance between the eyes, or unusual color of the irises. There may also be lumps on the nose, cheeks and forehead. They are usually light or dark brown in color. Dysmorphia The face is also a forehead that is too high or too low, which makes the entire face appear shapeless.
In the case of newborns, not all dysmorphic features they are visible immediately after birth – many of them are revealed as the baby grows. With age dysmorphia begins to be more and more visible, making parents anxious.
Features that should worry caregivers of a newborn include: short neck with excess skin on the nape, low-set eyes, wide-set nipples, almond-shaped eyes, drooping eyelids, wide-set eyes, flat nose with a prominent tip and a triangular face, small lower jaw , high and narrow forehead.
- Check also: Treacher Collins Syndrome – a stigma for life
The causes of dysmorphia
The cause of dysmorphia there is an abnormal development of the embryo, i.e. so-called malformations. The most common direct cause of malformation is genetic diseases such as Down syndrome, Turner syndrome or Klinefelter syndrome. The cause of dysmorphia Often there is a genetic defect syndrome called Kabuki syndrome.
In some cases, embryo abnormalities and anomalies occur as a result of a single genetic disorder unrelated to a specific genetic disease.
In the case of camptodactyly – dysmorfii involving a flexion contracture of one or more fingers – it may be the result of an injury.
Dysmorphic features the fetus may also develop as a result of an abnormal pregnancy.
Dysmorphic defects they can appear singly or in groups.
Methods of treating dysmorphia
For the most part dysmorphic changesthat are subject to correction, the only method of their treatment is surgical correction (plastic surgery). This has a particular impact on the patient’s well-being, especially in the case of dysmorfii within the face. Some types dysmorfiisuch as the unusual color of the irises, however, cannot be changed by surgery or pharmacotherapy. If this type of abnormality presents a significant problem for the patient, the patient may consider wearing stained contact lenses. In some cases dysmorfii Psychotherapy is helpful, helping the patient to accept his or her appearance, deviating from the average or normal, and perceive it more as an individual distinguishing feature, not a defect.