About syndactylic oxycephaly

What is syndactylic oxycephaly?

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate).

Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly).

In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In rare cases, the disorder may be inherited as an autosomal dominant trait.

What are the symptoms for syndactylic oxycephaly?

Fusion of the skull bones too early during development (craniosynostosis) symptom was found in the syndactylic oxycephaly condition

Mild cases of syndactylic oxycephaly may not require treatment. If the baby's cranial sutures are open and the skull is malformed, the doctor may recommend a specially designed helmet to assist correct the head. In this case, the molded helmet can help your baby's brain development and adjust the shape of the skull.
However, surgery is the main treatment for the majority of newborns. The type and timing of surgery are determined by the form of craniosynostosis and whether an underlying hereditary condition exists. Sometimes multiple surgeries are required.

The goal of surgery is to rectify the head shape, lessen or avoid pressure on the brain, make room for the brain to grow normally, and improve the appearance of your newborn. This entails both planning and surgery.

Symptoms
The indications of craniosynostosis are normally visible at birth, but they grow more prominent over your baby's first few months of life. The number of sutures fused and the stage of brain development at which the fusion occurs determine the signs and severity. Among the signs and symptoms are:
1. A deformed skull, with the shape changing depending on which sutures are afflicted.
2. The formation of a high, hard ridge along the damaged sutures, as well as an unusual change in the contour of the head.

Symptoms
Fusion of the skull bones too early during development (craniosynostosis),Webbing of fingers and toes (syndactyly)
Conditions
8th cranial nerve lesion,Optic nerve compression,Mental deficiency,Syndactyly
Drugs
NA

What are the causes for syndactylic oxycephaly?

Causes of syndactylic oxycephaly

1. The cause is not always clear, but it is sometimes linked to hereditary problems.
2. The most prevalent type of craniosynostosis is nonsyndromic craniosynostosis. Its cause is unknown, however, a combination of genetic and environmental factors is suspected.
3. Some genetic syndromes, such as Apert syndrome, Pfeiffer syndrome, or Crouzon syndrome, can induce syndromic craniosynostosis, which can disrupt a baby's skull growth. These syndromes are often accompanied by additional physical characteristics and health issues.
4. If left untreated, craniosynostosis can lead to a variety of complications, including a misshapen head and face for life and social isolation and low self-esteem.

Other causes of a malformed head
1. A malformed head is not usually an indication of craniosynostosis. For example, if the rear of your baby's skull appears flattened, this could be due to a lot of time lying on one side of the head. This can be addressed with regular position modifications or, if severe, with helmet therapy (cranial orthosis) to assist realign the head and give it a more balanced appearance.
2. If the suture and head shape are surgically repaired, the chance of increasing pressure within the skull (intracranial pressure) from uncomplicated craniosynostosis is low. However, babies with an underlying condition may have higher intracranial pressure if their skulls do not expand sufficiently to accommodate their growing brains.
3. Increased intracranial pressure, if left untreated, can result in:
4. Delays in development
5. Impaired cognition
6. Blindness
7. Seizures
8. Headaches

Symptoms
Fusion of the skull bones too early during development (craniosynostosis),Webbing of fingers and toes (syndactyly)
Conditions
8th cranial nerve lesion,Optic nerve compression,Mental deficiency,Syndactyly
Drugs
NA

What are the treatments for syndactylic oxycephaly?

Cure/medications for syndactylic oxycephaly

The technique is typically performed by a team that includes an expert in head and face surgery (craniofacial surgeon) and an expert in brain surgery (neurosurgeon). Endoscopic or open surgery can be performed. Both types of surgeries give excellent cosmetic outcomes with a low risk of consequences.

1. Endoscopic surgery: This minimally invasive operation is appropriate for babies as young as 6 months. Surgery should be performed as soon as possible. The damaged suture is removed by the surgeon using a lighted tube and camera (endoscope) placed through small scalp cuts (incisions). This allows the baby's brain to grow normally. Endoscopic surgery has a smaller incision than open surgery, usually requires just a one-night hospital stay, and does not require a blood transfusion.

2. The procedure is open: Open surgery is typically performed on infants older than 6 months. After making an incision in the scalp and cranial bones, the surgeon reshapes the afflicted part of the skull. The skull position is kept in place by absorbable plates and screws. Open surgery normally necessitates a three- to four-day hospital stay, and a blood transfusion is commonly required. In most situations, it is a one-time treatment, but in severe circumstances, repeated open procedures are frequently required to restore the baby's skull shape.

3. Helmet treatment: Following minimally invasive surgery, you will need to return to the office at regular intervals to fit a series of helmets to assist in molding your baby's skull. The length of helmet therapy will be determined by the surgeon according to how rapidly the form responds to treatment. When open surgery is performed, no helmet is usually required.

Symptoms
Fusion of the skull bones too early during development (craniosynostosis),Webbing of fingers and toes (syndactyly)
Conditions
8th cranial nerve lesion,Optic nerve compression,Mental deficiency,Syndactyly
Drugs
NA

What are the risk factors for syndactylic oxycephaly?

Factors of risk for syndactylic oxycephaly:

1. While the specific etiology is unclear, experts have shown that some characteristics are linked to an increased risk of the condition. Depending on their position in the mother's uterus, a fetus may be more susceptible to developing this deformity.
2. Multiple births, such as twins or triplets, are also more dangerous. A baby with a large head size is also more prone to have craniosynostosis.

Other recognized risk factors are as follows:
1. Thyroid disease in pregnancy: Women who acquire or are being medicated for thyroid problems throughout their pregnancies are more likely to have a kid with craniosynostosis.
2. Women who smoke at least one packet of cigarettes every day are more likely to have a baby with craniosynostosis. Although there does not seem to be an elevated risk throughout the first trimester, women who smoke later in their pregnancies are more likely to have a kid with craniosynostosis.
3. Fertility treatments: Women who used specific fertility drugs, such as clomiphene citrate (Clomid), had a higher risk of having a kid with craniosynostosis.
4. Genetics: The vast majority of craniosynostosis instances have no identifiable cause and tend to be random. It is estimated that approximately 8% of babies with this deformity have the issue as a result of a genetic disorder. 3 A genetic condition indicates that your child received the genes from one or both parents.

Researchers believe craniosynostosis is passed down to children as an autosomal dominant feature. This gene mutation causes a disturbance in the fibroblasts, which are responsible for bone formation.
Craniosynostosis may be linked to mutations in the following genes:
• TCF-12
• ERF
• CDC45
• SMO
• SMAD6

Symptoms
Fusion of the skull bones too early during development (craniosynostosis),Webbing of fingers and toes (syndactyly)
Conditions
8th cranial nerve lesion,Optic nerve compression,Mental deficiency,Syndactyly
Drugs
NA

Is there a cure/medications for syndactylic oxycephaly?

Na

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