About sakati-nyhan syndrome

What is sakati-nyhan syndrome?

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by 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 (polydactyly). In addition, Sakati syndrome, which is also known as ACPS type III, is associated with abnormalities of bones of the legs, structural heart malformations that are present at birth (congenital heart defects), and/or other findings. Sakati syndrome is thought to be caused by a new genetic change (mutation) that occurs randomly for unknown reasons (sporadically). This mutation is inherited as an autosomal dominant trait.

What are the symptoms for sakati-nyhan syndrome?

In Sakati syndrome, the fibrous joints between the Bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing an affected infant’s head to grow upward at an accelerated rate. As a result, the head appears long, narrow, and pointed at the top (acrocephaly). Affected individuals also have several unusual facial characteristics including a flat, abnormally small face; protruding eyes; an abnormally wide space between the eyes (ocular hypertelorism); an elongated nose; large, malformed (dysplastic) and low-set ears; and a prominent forehead.

Sakati syndrome is also characterized by several deformities of the hands and feet, including abnormally short fingers (brachydactyly), unusually broad thumbs and big toes, webbed toes (syndactyly), and more than the normal number of fingers and/or toes (polydactyly). Abnormalities of the legs are also present, including bowed thigh Bones (femurs); abnormally shaped, displaced calf Bones (fibulas); and underdeveloped shin Bones (hypoplastic tibias). In addition, both the legs and arms are shorter than normal.

Additional symptoms associated with this disorder may include teeth that are crowded together, an underdeveloped upper jaw bone (maxillary hypoplasia), jaws that project forward (prognathism), a short neck, a low hairline, absence of hair (alopecia), and congenital heart disease. Intelligence is usually within normal limits.

What are the causes for sakati-nyhan syndrome?

The exact cause of Sakati syndrome is not fully understood. It is believed that the syndrome may be caused by a new or sporadic, dominant genetic change (mutation). Although the exact reason for such a mutation remains unclear, some researchers suggest that advanced parental age may be a contributing factor.

If a person with Sakati syndrome were to have children, the altered gene for the disorder may be transmitted as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

What are the treatments for sakati-nyhan syndrome?


Treatment primarily consists of surgical correction of malformations. Early craniofacial surgery may be performed to correct the premature closure of the bones in the skull (craniosynostosis) and. Additional craniofacial surgery may be done later in life as well as surgery to correct deformities of the hands and feet. In addition, surgical repair of the bone abnormalities of the legs may also be performed to improve the affected individuals' ability to walk.

Infants with Sakati syndrome who have congenital heart defects may also be treated surgically. The surgical procedure performed will depend upon the severity and location of the heart defects and their associated symptoms.

Other treatment is symptomatic and supportive. Genetic counseling will be of benefit for affected individuals and their families.

What are the risk factors for sakati-nyhan syndrome?

Sakati-nyhan syndrome is a rare genetic disorder that can cause a variety of complications. It is an autosomal recessive disorder, which means that it happens when you inherit two copies of the gene that causes sakati-nyhan syndrome from both of your parents.

  • The disease is caused by mutations in the HEXA gene on chromosome 19.
    •The HEXA gene produces a protein called beta-hexosaminidase A (HEXA).
    •The protein is involved in metabolizing fats and lipids, so it plays an important role in normal cellular function.
    •When there's a mutation in this gene, HEXA doesn't work properly and can lead to symptoms associated with sakati-nyhan syndrome.
    •If you have one copy of the gene, you are a carrier and don't have symptoms.
    •If you receive two copies of the gene, you will develop sakati-nyhan syndrome.
  • Being a male. The female to male ratio is 2:1.
    •Being born with a low birth weight (less than 2,000 grams).
    •Being born to a mother who has had a previous child with sakati-nyhan syndrome.
    •Having high glucose levels as measured in the umbilical cord blood at birth.
Kidney stones,Low blood pressure,Low levels of sodium and potassium in your blood,Anemia,Hearing loss
Seizures,Involuntary movements (chorea),Behavioral problems,Mental retardation,Poor muscle tone (hypotonia)

Is there a cure/medications for sakati-nyhan syndrome?

There is currently no cure for sakati-nyhan syndrome, but there are some medications that can help manage it.

  • The most common medication used to treat sakati-nyhan syndrome is called octreotide, which is a synthetic version of the hormone somatostatin.
  • This medication helps reduce the amount of uric acid in your blood by lowering its production and increasing its excretion from your body.
  • The most effective way to manage sakati-nyhan syndrome is through diet, exercise, and lifestyle changes.
  • These changes include limiting the amount of protein you consume (to about 50 grams per day), reducing your alcohol consumption (because alcohol increases uric acid levels), and reducing the number of purines in your diet (purines are found in meat and seafood), and eating high-fiber foods like fruits and vegetables that help speed up the passage of food through your digestive tract, so less waste stays in your body longer.
  • The first line of treatment is often IV fluids and electrolytes. For example, if your child has a high fever, they may be given an IV to rehydrate them.
  • If they have diarrhea and/or vomiting, they may be given medications to control these symptoms. If the child has a low platelet count, platelet transfusions may be given to help bring it up back to normal levels.
  • Other treatments include antibiotics (if there's an infection), pain medications (for pain caused by ulcers), and laxatives (to help prevent constipation).

Kidney stones,Low blood pressure,Low levels of sodium and potassium in your blood,Anemia,Hearing loss
Seizures,Involuntary movements (chorea),Behavioral problems,Mental retardation,Poor muscle tone (hypotonia)

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