What is Snyder-Robinson syndrome?

What is Snyder-Robinson syndrome?

Snyder-Robinson syndrome (SRS) is a rare X-linked intellectual disability (XLID) disorder in which affected males have a slender build with long limbs, angular profile, and prominent muscles or bones (asthenic habitus), low muscle mass, some abnormal facial features (dysmorphism), speech abnormalities, outward …

What are the symptoms of central cord syndrome?

Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur, as well as painful sensations such as tinging, burning, or dull ache.

What causes central cord syndrome?

CCS usually occurs in people with existing arthritis changes in the bones of the neck. In such situations, the canal through which the spinal cord travels can be narrow, so that if the neck is forcefully extended (head tilted back), such as in a car accident, the spinal cord can be squeezed.

Does central cord syndrome go away?

There’s no cure for central cord syndrome, and outcomes vary. Some people regain most, if not all, function in their arms, hands and legs. But some people have loss of function in their hands for the rest of their lives.

What is facial dysplasia?

Abstract. Median facial dysplasia (MFD) is a distinct and unique disorder of the craniofacial region that is characteristic of deficient mid facial structures with the addition of a unilateral or bilateral cleft lip with or without a cleft palate.

Does central cord syndrome require surgery?

It is generally accepted that surgical treatment is necessary for central cord syndrome (CCS) with an underlying cervical stenosis. As for CCS with evidence of significant spinal cord compression, we suggest performing surgery as soon as possible.

Which spinal cord syndrome has the poorest prognosis?

Anterior Cord Syndrome This syndrome is characterized by paraplegia and a dissociated sensory loss with loss of pain and temperature sensation. Posterior column function (position, vibration, and deep pressure sense) is preserved. This syndrome has the poorest prognosis of the incomplete injuries.

Does central cord syndrome show up on MRI?

Magnetic resonance imaging (MRI), computed tomography (CT) scanning, and the production of plain radiographs of the cervical spine can facilitate the diagnosis of central cord syndrome.

What is Freeman Sheldon Syndrome?

General Discussion. Summary. Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.

What is Floating Harbor Syndrome?

Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. Children may be below average height for their age (short stature).

What do you need to know about Schnitzler syndrome?

Schnitzler syndrome 1 Summary. Schnitzler syndrome is a rare autoinflammatory condition. 2 Symptoms. People affected by Schnitzler syndrome also have an increased risk… 3 Cause. The exact underlying cause of Schnitzler syndrome is currently unknown. 4 Diagnosis. A diagnosis of Schnitzler syndrome is often suspected based on the presence…

What causes Snyder-Robinson syndrome?

The syndrome results from an inactivating mutation in the spermine synthase (SMS) gene resulting in an inability to convert spermidine to spermine. Snyder-Robinson syndrome was first described in a single family by Snyder and Robinson in 1969 as a non-syndromic X-linked disorder.

What is Schindler disease type 1?

Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form.

Is Schilder’s disease the same as multiple sclerosis?

Schilder’s disease is thought to be a form of multiple sclerosis. With MS, the immune system attacks the myelin, hurting it and the nerves it protects. Schilder’s disease has several other names. It’s also known as: Diffuse cerebral sclerosis.