PACS1-related syndrome

Alternate names

Autosomal dominant intellectual disability-17; Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome; Schuurs-Hoeijmakers syndrome; SHMS

Definition

PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features.

Epidemiology

The number of people with PACS1-related syndrome is unclear. To date, there have been less than 70 people with this condition reported in the medical literature.

Cause

• PACS1-related syndrome occurs when the PACS1 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.
• This gene provides instructions for making a protein that helps transport molecules and other proteins to cells and tissues where they are needed.
• The PACS1 protein is found in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other molecules and sends them to their intended destinations inside or outside the cell.
• The PACS1 protein is most active during development before birth.

Gene mutations

• Almost all cases of PACS1 syndrome are caused by the same mutation.
• This and other PACS1 gene mutations are thought to impair the protein's ability to aid in the transport of certain molecules and proteins.
• Such an impairment likely results in the accumulation or misplacement of molecules or proteins within cells; however, the effects of these accumulated substances is unclear.

Inheritance

• PACS1-related syndrome is not thought to be inherited in families.
• In all cases reported so far, PACS1-related syndrome occurs because of a new genetic variant that occurs in the PACS1 gene in either the egg or sperm.
• Neither parent has the genetic variant, and the chance for them to have another child with PACS1-related syndrome is less than 1%.

Signs and symptoms

Signs and symptoms of PACS1-related syndrome may include:

• Intellectual disability
• Developmental delay
• Low muscle tone (hypotonia)
• Feeding difficulties
• Seizures
• Behavioral features
• Distinctive facial features
• Heart defects

Children with PACS1-related syndrome often have facial features that make them look similar to each other. These features can include low hairline, low set ears, wide spaced eyes, and a round nasal tip. Some boys with PACS1-related syndrome may have undescended testes (cryptorchidism). Less than 70 cases of PACS1-related syndrome have been reported in the medical literature, and little is known about how this condition changes over time.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal facial shape(Unusual facial appearance)
• Global developmental delay
• Intellectual disabilit(Mental deficiency)

30%-79% of people have these symptoms

• Abnormal temper tantrums
• Bilateral [[ptosis](Drooping of both upper eyelids)
• Bulbous nose
• Constipation
• Cryptorchidism(Undescended testes)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Failure to thrive(Faltering weight)
• Highly arched eyebro(Arched eyebrows)
• Hypertelorism(Wide-set eyes)
• Infantile muscular hypotonia(Decreased muscle tone in infant)
• Long eyelashes(Increased length of eyelashes)
• Low-set ears(Low set ears)
• Oral aversion
• Protruding ear(Prominent ear)

Diagnosis

Diagnosis of PACS1-related syndrome is based on the symptoms, a clinical examination, and may confirmed by the results of genetic testing. Other conditions may need to be ruled out before PACS1-related syndrome is diagnosed.

Treatment

Treatment of PACS1-related syndrome is focused on managing the symptoms. Standard treatment for feeding issues, constipation, seizures, behavioral issues, cardiac anomalies, vision issues, and renal anomalies.[1]. Treatment options may include medications for seizures, placement of a feeding tube, and surgery to correct heart defects. Specialists involved in the care of someone with PACS1-related syndrome may include:

• Neurologist
• Gastroenterologist
• Cardiologist
• Ophthalmologist
• Developmental specialist
• Physical and/or occupational therapist
• Medical geneticist

NIH genetic and rare disease info

• NIH info on PACS1-related syndrome

PACS1-related syndrome is a rare disease.

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