What we need to know about Carpenter Syndrome

Details: Category: Region 9; Published: 04 February 2022

Carpenter syndrome is one of several uncommon genetic illnesses known as "acrocephalopolysyndactyly" (ACPS). Premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits are all characteristics of ACPS (polydactyly). Carpenter syndrome, commonly known as ACPS type II, is a neurological disorder.

Carpenter syndrome affects one or more of the following symptoms in children:

Head is misshapen: it is short from front to rear and long and narrow from top to bottom.
Extra or exceptionally small fingers and toes, fused or webbed fingers and toes
Deformities of the face include improperly shaped eye sockets, a flat nasal bridge, and a tiny upper or lower jaw.
Ears that are misshapen and low-set
Tooth crowding and crookedness
Obesity that develops in childhood
Hearing impairment
Hip, spine, or knee bone malformations
Problems with certain organs, such as the heart, lungs, liver, or kidneys

Carpenter syndrome is most commonly caused by a mutation in the RAB23 gene while a mutation in the MEGF8 gene has been found among the few. Genes encode instructions for the production of proteins, which are essential for numerous bodily processes. When a gene is mutated, the protein output may be defective, inefficient, or nonexistent. Depending on the roles of the specific protein, this can have an impact on numerous organ systems in the body, including the brain.

Carpenter syndrome can occasionally be diagnosed before birth (prenatally) with specialized procedures such as fetoscopy or ultrasound. During fetoscopy, a flexible viewing tool (endoscope) is inserted through the abdominal wall into the uterus to directly watch the fetus and, in some situations, acquire fetal blood or tissue samples. On the other hand, Fetal Ultrasonography is a non-invasive diagnostic method that uses reflected sound waves to produce a picture of the growing fetus. Samples produced from fetal tissues, such as chorionic villus biopsy or amniocentesis, can be used for prenatal molecular genetic testing to confirm a probable diagnosis of Carpenter syndrome.

The treatment goals are to relieve the pressure inside the skull, provide enough space for the brain to grow, and to address the malformations of the skull, face, fingers, or toes. Our treatment choices at Children's National include:

Surgery on the skull before the age of one, while the skull bones are still relatively soft
Minimally invasive surgery to open skull sutures for appropriate skull and brain growth in newborns less than 3 months.
Traditional surgery for newborns aged 6 months and up to correct the form of the skull
Correction of facial and jaw abnormalities with surgery
Correctional surgery for abnormalities with the fingers or toes
Orthodontic surgery is used to repair dental issues.
Speech therapy to aid in the development of speech and language

Surely, you will find this information very frightening. However, having regular prenatal visits is among the best way to detect not just this form of an anomaly but also other health concerns that may be associated with pregnancy. With prenatal checkups, potential problems can be diagnosed with which severe conditions or complications can be minimized if not totally managed. Visit your health center of your doctor as early as suspecting you might be pregnant associated with a delayed menstrual period.

NO I Zamubec Alomar C. Adlawan

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