Gordon syndrome

Gordon syndrome
Autosomal dominant - en.svg
Gordon syndrome is inherited in an autosomal dominant manner
Synonyms	Camptodactyly-cleft palate-clubfoot syndrome

Alternate names

Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3; Camptodactyly, cleft palate, and clubfoot

Definition

Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis.

Epidemiology

Gordon syndrome is very rare, and its exact prevalence is unknown. One paper found that about 140 people with this syndrome or a closely related syndrome have been reported in the literature.

Cause

• Gordon syndrome is caused by mutations in the piezo-type mechanosensitive ion channel component 2 (PIEZO2) gene.
• This gene makes a protein that is found in many organs of the body, but its exact function is unknown.
• Mutations in the PIEZO2 gene are also found in people with distal arthrogryposis type 5 and Marden Walker syndrome.
• The features of these conditions are like those seen in Gordon syndrome. S
• ome researchers consider Gordon syndrome, distal arthrogryposis type 5 and Marden Walker syndrome to be the same condition with slightly different features.

Inheritance

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

• Gordon syndrome is inherited in families in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from a parent. Some people are born with Gordon syndrome as the result of a new genetic mutation (de novo) in the PIEZO2 gene, and do not have a history of this syndrome in their family.
• Each child of an individual with Gordon syndrome has a 50% or 1 in 2 chance of inheriting the mutation and the disorder. The signs and symptoms of Gordon syndrome can be different from person to person even within the same family.

Signs and symptoms

• The symptoms of Gordon syndrome are present at birth and can include curved fingers (camptodactyly), club feet, and an opening in the roof of the mouth (cleft palate).
• The joints of the arms and legs including the wrists, elbows, knees and/or ankles may be stiff or unable to move.
• The range and severity of features can vary from person to person. Intelligence is usually normal.

Other signs and symptoms may include: • A split in the soft hanging tissue at the back of the throat (bifid uvula) • Short stature • Hip dislocation • Abnormal backward or side to side curvature of spine (scoliosis) • Drooping of the eyelids (ptosis) • An extra skin fold at the corner of the eyes (epicanthal folds) • Webbing of the fingers and/or toes (syndactyly) • A short, webbed neck (pterygium colli) • Undescended testes in males (cryptorchidism)

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

• Camptodactyly of finger(Permanent flexion of the finger)
• Talipes

30%-79% of people have these symptoms

• Decreased muscle mass
• High palate(Elevated palate)

5%-29% of people have these symptoms

• Cleft palate(Cleft roof of mouth)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Cryptorchidism(Undescended testes)
• Facial asymmetry(Asymmetry of face)
• Finger syndactyly
• Hearing impairment(Deafness)
• Limitation of joint mobility(Decreased joint mobility)
• Ophthalmoplegia(Eye muscle paralysis)
• Pectus excavatum(Funnel chest)
• Scoliosis
• Short stature(Decreased body height)

1%-4% of people have these symptoms

• Global developmental delay
• Intellectual disability, mild(Mental retardation, borderline-mild)

Diagnosis

• Gordon syndrome is diagnosed by looking for the signs and symptoms associated with the syndrome.
• Genetic testing of the PIEZO2 gene can aid in the diagnosis.

Treatment

There is no specific treatment for Gordon syndrome. Physical therapy and surgery can help improve joint mobility.

Prognosis

People with Gordon syndrome may have reduced mobility, but Gordon syndrome is not known to impact long-term health.

NIH genetic and rare disease info

• NIH info on Gordon syndrome

Gordon syndrome is a rare disease.