About craniosynostosis-radial aplasia syndrome

What is craniosynostosis-radial aplasia syndrome?

Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands.

In infants with Baller-Gerold Syndrome, there is premature fusion of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis). As a result, the head may appear unusually short and wide and/or pointed at the top (turribrachycephaly) or relatively triangular in shape (trigonocephaly). Affected infants may also have a prominent forehead; downslanting eyelid folds (palpebral fissures), small, malformed (dysplastic), low-set ears, and/or other craniofacial abnormalities. Baller-Gerold Syndrome is also characterized by underdevelopment (hypoplasia) or absence (aplasia) of the bone on the thumb side of the forearms (radii). In addition, the bone on the "pinky" side of the forearms (ulnae) is unusually short and curved and the thumbs may be underdeveloped or absent. In some cases, additional physical abnormalities and/or mental retardation may also be present. Baller-Gerold Syndrome is thought to be inherited as an autosomal recessive trait.

What are the symptoms for craniosynostosis-radial aplasia syndrome?

Children with BGS are born with premature closure of the joints or seams (sutures) of the skull. This causes an upward growth of the head giving it a pointed or cone-shaped appearance. The large bone of the forearm on the “pinky” side (ulnar) is Short and curved and the Short bone of the forearm on the thumb side (radius) is underdeveloped or missing. These Skeletal abnormalities may be present on both sides or just one (asymmetric). Sometimes, other bones in the hand called the carpal and metacarpal bones may also be missing or formed differently. Problems with fine motor skills may be present due to the deformities of the hands and arms. Underdevelopment or absence of the kneecap (patella) may also occur. In some people with BGS, other Skeletal abnormalities involving the spine and pelvis are seen.

Slow growth is also a feature of BGS. Delayed growth in childhood may result in height and weight significantly below average. Heart defects can sometimes be seen in people with BGS. The more common Heart defects that have been described in the medical literature on BGS are ventricular septal defects, tetralogy of Fallot, and congential portal venous malformations. Each of these terms describes a different change to development of the structure of the heart. The severity of a heart defect depends on the type of structural issue and the individual case. Some Heart defects may require surgical correction, whereas others may resolve naturally over time.

People with BGS have distinct facial features, including a protruding forehead, widely-spaced eyes, Short nose, and small mouth. The palate, or roof of the mouth, may have a high arched appearance. The fontanelles, or the soft spots on an infant’s skull, may appear larger than would be expected. In the first few years of life, the skin may be discolored or shed easily. This is called poikiloderma.

Intellectual disability has been reported in BGS. However, most individuals have normal intelligence.

In some people with BGS, the anus may be further forward than is typical (anteriorly placed), and the opening to the anus may be missing or blocked (imperforate anus). These structural abnormalities can involve a fistula, which results in an abnormal connection between the anus and genitalia. In such cases, surgical repair may be possible.

People with BGS or carriers of the condition, may be at increased risk for certain types of cancer. These include osteosarcoma, a type of bone cancer; skin cancer; and lymphoma. The medical literature links mutations in the RECQL4 gene to increased cancer risk. Signs and symptoms for these types of cancer can include bone pain, swelling and fractures for osteosarcoma, or lymph node enlargement, Fever and unexplained weight loss for lymphoma.

What are the causes for craniosynostosis-radial aplasia syndrome?

Baller-Gerold syndrome is caused, in most cases, by a non-working (mutated) gene called RECQL4. The RECQL4 gene has an important role in maintaining the stability of DNA, the instruction manual for the body. To carry out this role, RECQL4 is involved in many activities such as the repair of damaged DNA or a cell’s response to stress. When there is a mutation in the gene, RECQL4 cannot carry out these important functions. This can lead to a health condition like or similar to Baller-Gerold syndrome.

In the medical literature, two other genes have been described in people with features of Baller-Gerold syndrome. These genes are TWIST and FGFR2.

BGS is transmitted by an autosomal recessive inheritance pattern. Recessive genetic disorders occur when an individual inherits a gene mutation from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass on the gene mutation and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

Parents who are close blood relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

What are the treatments for craniosynostosis-radial aplasia syndrome?

Treatment of BGS involves surgery to relieve pressure inside the skull due to the craniosynostosis. This can be done by separating the bony sections and lining the seams between them with materials to prevent fusion. The younger the patient is at the time of the surgery, the better the results.

Some people with BGS may need surgery to correct other skeletal deformities, such as thumb reconstruction from the index finger. However, there are many children with BGS that do not need this type of surgery. Physical and occupational therapy may help in the development of fine motor skills.

If a heart defect is present, cardiac surgery may also be required.

Healthcare providers from multiple specialties, including neurosurgery, orthopedics, genetics, and dermatology may be involved in the care of a person with BGS.

Other treatment is symptomatic and supportive.

What are the risk factors for craniosynostosis-radial aplasia syndrome?

There are too few cases of BGS reported to determine, with certainty, whether it occurs more commonly in people of a particular ethnicity.

Is there a cure/medications for craniosynostosis-radial aplasia syndrome?

Also known as Baller-Gerold Syndrome, craniosynostosis-radial aplasia syndrome is an uncommon hereditary condition which manifests at birth (congenital). A distinctively misshapen skull, facial (craniofacial) region, and bones of the forearms and hands are typical characteristics of BGS.

1. Surgery is used to treat BGS in order to ease the pressure that the craniosynostosis has placed inside the skull. To do this, the bony parts can be separated, and the seams between them can be lined with materials to prevent fusion. The procedure has better results when the patient is younger when it is performed.

2. Other bone malformations in some BGS patients may require surgery to address, such as thumb reconstruction from the index finger. Many children with BGS, however, do not require this kind of surgery. The development of fine motor abilities may benefit from physical and occupational therapy.

3. Cardiac surgery might also be necessary if there is a heart defect. A person with BGS may receive care from medical professionals with various specializations, such as dermatology, orthopedics, genetics, and neurosurgery.

4. It is advised to consult with a variety of healthcare professionals both before and after receiving a BGS diagnosis. If genetic testing hasn't already been done, a consultation with a clinical geneticist or genetic counselor may also cover how BGS may affect the patient and their family. An assessment of craniosynostosis can be provided by a neurosurgeon or craniofacial specialist.

5. Additionally, orthopedic surgery and occupational therapy may be used to examine hand and arm function. In some circumstances, the doctor might advise having surgery. Some people may have poikiloderma symptoms, such as skin color changes. Referrals to dermatologists in these situations might be beneficial.

Large bone on the forearm is short and curved and short bone of the forearm is underdeveloped
Premature closure of joints,Skeletal abnormalities

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