Lenz-Majewski Syndrome Definition and Meaning

Doctors know the Lenz-Majewski syndrome as a type of hyperostotic short stature that is associated with cutix laxa and osteosclerosis. The syndrome is based on a mutation of gene PTDSS1 at gene locus 8q22.1. A causal therapy is not yet available to those affected.

What is Lenz-Majewski Syndrome?

So far, no causal therapeutic approaches are available for patients with Lenz-Majewski syndrome. However, gene therapy treatment methods are currently the subject of medical research. See AbbreviationFinder for abbreviations related to Lenz-Majewski Syndrome.

Lenz -Majewski syndrome is a special and extremely rare form of short stature. The symptom complex has only been described in nine cases so far. As a syndrome from the group of hyperostotic short stature, the complex is characterized by short stature, characteristic facial features and cutis laxa. Progressive bone sclerotherapy was also observed in the newly described cases.

The progressive sclerotherapy is also known as osteosclerosis and corresponds to a hardening of the bone tissue. The prevalence of Lenz-Majewski syndrome is assumed to be only one case per million people. Synonyms for the symptom complex are the clinical terms Braham-Lenz syndrome and Lenz-Majewski hyperostotic dwarfism.

The former synonym goes back to the first describer Braham. In his remarks, he still referred to the syndrome as Camurati-Engelmann syndrome in the 20th century. A little later, the German human geneticist Lenz made an initial distinction together with the pediatrician Majewski. The designation of the disease as Lenz-Majewski syndrome refers to this first differentiation towards the end of the 20th century.


Lenz-Majewski syndrome has a genetic basis. The cases observed so far do not seem to have occurred sporadically, but are subject to an autosomal dominant inheritance. In particular, the advanced age of the fathers of affected children points to autosomal dominant new mutations as the primary cause of the symptoms.

In the meantime, despite the few cases described, the causative gene has been identified. The syndrome is probably based on a mutation in the PTDSS1 gene, which is located at gene locus 8q22.1. The gene codes for a protein called phosphatidylserine synthase 1.

Due to the mutation of the gene, the protein loses its function, which consists in the formation of phosphatidylserine. Phosphatidylserines are important phospholipids that are counted among the membrane components. This connection seems to trigger the extreme short stature with pathologically altered vertebral bodies.

Symptoms, Ailments & Signs

Lenz-Majewski syndrome patients suffer from various clinical criteria. The disease manifests itself in early infancy and appears as a failure to thrive during this period. Patients appear pre-aged and progeroid. Their cranial sutures are unusually wide. The same applies to their fontanelles. Craniofacial dysmorphism is often noticeable immediately after birth.

Most patients have a prominent and extremely broad forehead. In addition, hypertelorism is often present. The tear ducts of those affected are often more or less displaced in their course. The auricles appear excessively large and noticeably floppy. There are usually defects in the enamel of those affected, which later promote tooth decay. The aged appearance of those affected is due to a so-called cutis laxa.

This phenomenon corresponds to thin and withered skin that is more venous and associated with hernias, cryptorchidism, or hypospadias. Most patients suffer from mental retardation. The syndrome manifests itself in the fingers as membranous syndactyly, which usually affects the space between the second and fifth fingers.

Severe short stature is the most characteristic symptom of Lenz-Majewski syndrome. The limbs of those affected may also be affected by brachydactyly and appear severely shortened.

Diagnosis & course of disease

The clinical picture is usually enough for the doctor to make an initial suspected diagnosis of Lenz-Majewski syndrome. In addition, an X-ray can be ordered. The imaging shows typical criteria such as progressive osteosclerosis of the cranial bones and vertebral bodies. This sign can be associated with broad ribs or collarbones.

In addition, diaphyseal sclerosis with a widening of the bones can sometimes be seen in the X-ray image. Hypoplasia of the middle phalanges also speaks for the syndrome. In terms of differential diagnosis, the doctor must differentiate the syndrome from symptom complexes with a similar appearance, such as Camurati-Engelmann syndrome, craniodiaphyseal dysplasia or craniometaphyseal dysplasia.

A molecular genetic test can be carried out to confirm a suspected diagnosis. If the patient does indeed have Lenz-Majewski Syndrome, this analysis will provide evidence of the genetically causative mutation.


Those affected primarily suffer from short stature as a result of the Lenz-Majewski syndrome. In children, this condition can lead to psychological problems or to bullying and teasing. The quality of life of those affected is significantly reduced by this disease. Furthermore, tooth decay and other defects in the teeth are not uncommon.

Without treatment, those affected suffer from severe toothache and other unpleasant discomfort in the oral cavity. Not infrequently, the Lenz-Majewski syndrome also leads to mental retardation, so that the patients are dependent on the help of other people in their everyday life. Often the parents and relatives of those affected also suffer from the symptoms of psychological problems or depression.

Furthermore, individual extremities can also be shortened by the disease, which can also lead to various limitations in life. It is not possible to treat the Lenz-Majewski syndrome causally. For this reason, treatment is primarily aimed at reducing the individual symptoms. Although there are no complications, the course of the disease is not completely positive. As a rule, those affected by Lenz-Majewski syndrome are dependent on the help of other people throughout their lives.

When should you go to the doctor?

Patients with Lenz-Majewski syndrome have various symptoms that need to be clarified. Since the disease is hereditary, symptoms can be diagnosed shortly after birth. Parents should consult a doctor closely should any discomfort or complications arise. If the child develops psychological problems as a result of the deformities and skin changes, a therapist must be consulted. Complications caused by any mental complaints must also be clarified by a specialist.

It is best for parents to keep in touch with a specialist clinic for genetic diseases. Additional doctors need to be consulted if the child shows signs of visual disturbances or oral discomfort. The characteristic short stature must be treated by an orthopedist. If the Lenz-Majewski syndrome is treated early, the symptoms can be greatly alleviated. Therefore, an early clarification is necessary, even if the symptoms of hyperostotic short stature may not be pronounced at the beginning. After the initial treatment, the child continues to need the help of physiotherapists, psychologists and doctors.

Treatment & Therapy

So far, no causal therapeutic approaches are available for patients with Lenz-Majewski syndrome. However, gene therapy treatment methods are currently the subject of medical research. Depending on the progress of this research subject, there may be future gene therapy causal cure options for the syndrome. Currently, however, those affected have to be satisfied with symptomatic treatment.

This symptomatic treatment can include, for example, surgical correction of the deformities. Such a correction does not always have to take place, but is limited to syndactyly, which restricts the patient in his everyday life. The progressive hardening of the bones can sometimes be slowed down by dietary and medicinal interventions.

Osteosclerosis should be monitored constantly and closely so that any fractures that occur can be treated quickly. Because of the mental and intellectual deficits, early support is usually recommended for the affected patients. As part of this early support, any deficits on an intellectual level can ideally be reduced so that they are moderate and hardly noticeable. Ideally, the parents of affected children receive detailed advice on possible funding opportunities.

Outlook & Forecast

The prognosis of Lenz-Majewski syndrome is unfavorable. According to the current medical and scientific status, there is no therapy option that leads to recovery. The cause of the health disorder is based on a genetic defect. Since changes in human genetics cannot be made for legal reasons, there is no way to correct the mutation.

The further course of the disease depends on the severity of the individual symptoms. Nevertheless, the quality of life of a patient with the syndrome is fundamentally significantly restricted. Even if the symptoms are mild, there are abnormalities in the growth process. Short stature is characteristic of the disease. This cannot be corrected by the administration of hormones. The visual blemish leads to a state of emotional distress. For this reason, the risk of psychological complications is increased in those affected.

In the case of a severe course of the disease, there are also cognitive limitations in addition to the physical abnormalities. Mental retardation can already be supported in the first years of life through early support. Cognitive performance is then improved overall, but there is a possibility that limitations in performance level will remain for life. The deficits can be minimized with the help of a therapist and support from family members. This makes it possible for some patients to live a good life.


The Lenz-Majewski syndrome cannot be prevented so far, since the symptom complex is caused by a new genetic mutation for an unspecified reason.


Since Lenz-Majewski syndrome is incurable, regular and comprehensive follow-up care is required. Those affected usually suffer from a number of complications and symptoms, which in the worst case can lead to the death of the person concerned. The disease should therefore be recognized very quickly in order to contain further symptoms or complications.

Those affected should see a doctor regularly to check the medication and possible side effects. Since the disease can be very stressful for those affected and their relatives, psychological support can be recommended in order to reduce the suffering in general.

You can do that yourself

It is not possible to treat Lenz-Majewski syndrome through self-help means. As a rule, direct medical treatment of the syndrome is not possible either, since it is a hereditary disease.

If the person concerned has intellectual deficits, these must be remedied through intensive support. The earlier this support begins, the higher the probability that these deficits will be compensated. The parents can also do various exercises with the child in their own home to promote and strengthen the mind. However, the child should also be given intensive support in kindergarten and at school.

Hardening of the bones can be relieved by taking medication. It is important to ensure that it is taken regularly, whereby parents should observe this regularity, especially with children. The hardening can also be stopped by an adapted diet. However, the exact instructions from the doctor regarding a special diet must be observed. The malformations are corrected by surgical interventions and cannot be treated by means of self-help.


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