RARE DISEASE HONG KONG

捐助支持
加入本會
登記做義工

About Rare DiseasesRare Disease Wiki

Rubinstein-Taybi Syndrome (RSTS)

Name of disease:

Rubinstein-Taybi Syndrome (RSTS)

ICD-10 diagnosis code:

Q87.2

Causes:

Mutations in the CREBBP gene cause about half of cases of RSTS. Deletions or mutations in the EP300 gene will also cause this disease.

Pattern of inheritance:

Most cases are sporadic. Rarely autosomal dominant.

Prevalence:

1/100,000 - 1/125,000

Diagnosis:

The diagnosis of RSTS is primarily based on physical (clinical) features. Genetic testing

Age of onset:

Before birth / newborn babies

Common signs and symptoms:

Growth and development Failure to thrive in infancy Feeding difficulties Short stature Intellectual disability (average IQ between 36-51) Psychomotor delays Delay in expressive speech Diminished muscle tone (hypotonia) Abnormally exaggerated reflexes (hyperreflexia) A stiff, unsteady gait Constipation Seizures Physical features Small head Beaked nose Downslanting eyelid openings Wide-set eyes Crossed eyes Abnormally small mouth Thin upper lip Irregularly shaped teeth Malocclusion (upper and lower jaws do not meet properly) Abnormally broad thumbs and toes Clubfoot Skeletal deformities Abnormal side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine Abnormal depression of the bone forming the center of the chest, known as “funnel chest” or pectus excavatum Abnormalities of vertebrae and the pelvis Malformations of ribs Recurrent dislocation of the knee caps. Cardiac abnormalities Congenital heart defect Extra heart sounds (heart murmurs) Pulmonary stenosis Narrowing of the aorta (aortic coarctation) Ventricular septal defects (VSDs) Atrial septal defects (ASDs) Behavior Short attention span Decreased tolerance for noise and crowds Impulsivity Moodiness Autistic behaviours Other symptoms Cryptorchidism (i.e. the absence of one or both testes from the scrotum, about 78% of male patients have this symptom) Hirsutism (excessive body hair on parts of the body where hair is normally absent or minimal) Sleep disorder

Available treatments (medicinal and non-medicinal):

Currently, there is no specific treatment for Rubinstein-Taybi syndrome. Only the medical issues caused by the condition can be addressed. For example, surgery are performed to repair or modify deformities of the fingers, toes and other skeletal abnormalities.

Disease management tips:

here will be feeding difficulties in the neonatal period, which affects the baby’s growth and development, so it is necessary to pay attention to nutrient intake. Complications of respiratory tract infections and heart diseases can affect the development of the disease, so special attention should be paid. Patients must pay routine follow-up visits to the multidisciplinary team including ophthalmology, orthopedics, urology, rehabilitation, etc. for consultation and treatment。 Since the symptoms of this disease can affect the appeareance, psychological support and encouragement should be given to the patient. Special education programmes, vocation training, speech, and /or behavioural therapy may also be recommended.

References:

http://www.tfrd.org.tw/tfrd/rare_b/view/id/190 https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/#causes https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=783 https://rarediseases.org/rare-diseases/rubinstein-taybi-syndrome

Other useful websites

More about the disease:

5P-Societyhttps://www.omim.org/entry/180849 https://ijponline.biomedcentral.com/articles/10.1186/s13052-015-0110-1 https://radiopaedia.org/articles/rubinstein-taybi-syndrome-1 Patient groups: https://www.facebook.com/rubinstein (Rubinstein Taybi Syndrome)