Smith-Lemli-Opitz syndrome (SLO syndrome) is a genetic disease that affects about 1 child every 20,000 / 40,000. Transmission is autosomal recessive, so it has a 25% recurrence risk. Most cases are evident from birth, but the diagnosis of some mild forms can only come into adulthood.

The most characteristic symptoms of SLO syndrome are microcephaly, facial dysmorphism, mental retardation, behavioral disorders. The latter include mainly autism spectrum behaviors, hyperactivity and self-harm. Some subjects also show ocular disorders ranging from cataracts to retinal degeneration, resulting in blindness. Others show congenital cardiopathies and gastrointestinal abnormalities.

The cause of Smith-Lempli-Opitz syndrome is a metabolic disease caused by a mutation of the DHCR7 gene. This causes problems in the synthesis of cholesterol, lowering its levels excessively. The absence of cholesterol therefore translates into the physical and neurological deficits mentioned above.

The diagnosis of SLO can also occur in the prenatal stage. Prenatal screening such as fetal ultrasound, amniocentesis and villocentesis are able to tell whether the fetus is ill or not. In the case of a positive diagnosis, only symptomatic therapies are available today. It proceeds then integrating the missing cholesterol and treating any malformations. In severe cases, these lead to an early death.

Source: ospedalebambinogesu.it

Hay-Wells syndrome or AEC syndrome is a malformative syndrome. It manifests itself mainly in three ways:

• Lack of separation of the eyelid margins. One or both eyes are therefore completely or partially closed;
• cleft lip sometimes accompanied by cracking of the palate;
• abnormalities of skin, hair, nails and teeth.

In some cases the eyelid abnormalities cause malformations of the lacrimal glands, with consequent ocular problems. Sometimes there are also defects in the inner ear and the fusion of two or more fingers and toes. In the most severe forms, skin erosions occur, with areas completely devoid of epidermis and the exposed subcutaneous tissue. This post to infections and sometimes also to bleeding.

Hay-Wells syndrome is an inherited genetic disease that affects the tp63 or p73l gene. It is an autosomal dominant transmission, so only one copy of the modified gene is enough for the disease to manifest. In many cases, however, the disease manifests itself sporadically, ie without the gene being inherited from the parents.

The diagnosis of the disease is based first of all on clinical observation, followed by genetic testing. If there are cases in the family, prenatal diagnosis can be made. To date, the treatments are only symptomatic and there is no decisive cure.

Source: telethon.it

The word progeria comes from the Greek "pro" - "before" - and "gheron" - "old". It is the alternative name of Hutchinson-Gilford syndrome (HGPS), a very rare genetic disease that causes premature aging. It affects about 1 child every 4-8 million births and today there are about 70 sick children, including 5 in Italy.

Progeria is caused by a mutation in the LMNA gene, a manufacturer of the LAMIN-A protein. It is the raw material of the structure that unites the cell nucleus and the external part. When it is missing, the nucleus becomes unstable and this causes the early death of the cell. In the long run, the phenomenon causes premature aging of the organism.

Hutchinson-Gilford syndrome occurs in the first months of life. It manifests itself with a hardening of the skin and the appearance of an evident venous reticulum. Subcutaneous fat is insufficient and the baby grows little. Around 18-24 months the first signs of aging become evident. Those who suffer suffer little, have old skin, lose body fat and hair. It also shows stiffness of joints, atherosclerosis and is prone to cardiovascular disease and heart attack.

Although genetic, progeria is not hereditary. It is suspected that the mutation occurs in one of the two gametes spontaneously, just before conception. Its appearance does not therefore depend on family predispositions.

Source: progeriaitalia.org