The term dysmorphia refers to all malformations or deformations of the organs of the human body (liver, skull, muscles, etc.). In the majority of cases, this dysmorphia is present from birth. It can be a symptom of a larger syndrome.

Dysmorphia includes all the malformations of the human body. From the Greek “dys”, the difficulty, and “morph”, the form, this term designates more precisely the abnormal forms of an organ or another part of the body. The dysmorphisms are very numerous and of varying severity. Thus, dysmorphia can equally well denote a benign singularity of an organ in an individual, compared to the rest of the population, as a serious anomaly.

We commonly speak of dysmorphia to designate:

• Craniofacial dysmorphia
• Hepatic dysmorphia (of the liver)

In the first case, the dysmorphia is said to be congenital, that is to say present from birth. This is also the case for dysmorphic extremities (number of fingers greater than ten, knuckles etc.) While liver dysmorphism can appear as a result of cirrhosis, whether its origin is viral or due to the alcohol. 

Causes

In the case of congenital dysmorphias, the causes can be various. Facial malformations are often symptomatic of a syndrome, such as trisomy 21 for example. 

The causes can be of origin:

• teratogenic or external (consumption of alcohol, drugs or exposure to chemicals during pregnancy etc.)
• infectious via the placenta (bacteria, viruses, parasites)
• mechanical (pressure on the fetus etc.)
• genetic (chromosomal with trisomies 13, 18, 21, hereditary, etc.)
• unknown

Regarding hepatic dysmorphism, the appearance of this malformation occurs concomitantly with cirrhosis. In a study carried out in 2004, published in the Journal of Radiology: 76,6% of the 300 patients followed for cirrhosis presented some form of hepatic dysmorphism.

Diagnostic

The diagnosis is often made at birth by a pediatrician as part of the follow-up of the child. 

For patients with cirrhosis, dysmorphia is a complication of the disease. The doctor will order a CT scan.

The people involved and the risk factors

Cranio-facial dysmorphies

Congenital malformations being of various origins, they can affect all newborns. However, there are factors that increase the appearance of diseases or syndromes involving dysmorphia: 

• alcohol or drug use during pregnancy
• exposure to chemicals during pregnancy
• consanguinity
• hereditary pathologies 

A family tree made by the pediatrician and the biological parents over two or three generations is recommended to identify risk factors.

Dysmorphies hépathiques

People with cirrhosis should watch for dysmorphism.

The symptoms of congenital dysmorphia are numerous. The pediatrician will monitor:

For facial dysmorphia

• The shape of the skull, the size of the fontanelles
• Alopecia
• The shape of the eyes and the distance between the eyes
• The shape and joint of the eyebrows
• The shape of the nose (root, nasal bridge, tip etc.)
• The dimple above the lip that is erased in fetal alcohol syndrome
• The shape of the mouth (cleft lip, thickness of the lips, palate, uvula, gums, tongue and teeth)
• the chin 
• the ears: position, orientation, size, hemming and shape

For other dysmorphias

• extremities: number of fingers, knuckle or fusion of fingers, thumb abnormality etc.
• the skin: pigmentation abnormalities, café-au-lait spots, stretch marks etc.

Congenital dysmorphias cannot be cured. No cure has been developed.

Some cases of dysmorphism are mild and will not require any medical intervention. Others may be operated on through surgery; this is the case for the joint of two fingers for example.

In the more severe forms of the disease, children will need to be accompanied by a doctor during their development, or even to follow a medical treatment to improve the living conditions of the child or to fight against a complication related to the dysmorphia.

Although the origin of dysmorphism is not always known, exposure to risks during pregnancy occurs in a large number of cases. 

Thus, it is important to remember that the consumption of alcohol or drugs during pregnancy is absolutely prohibited, even in small doses. Pregnant patients should always consult a doctor before taking any medication.