What is fetal akinesia?

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

What is Pena-Shokeir syndrome?

Pena-Shokeir syndrome is a rare lethal disorder which clinical phenotype is the result of a deformation sequence caused by fetal akinesia/hypokinesia. In approximately 50 % cases an autosomal recessive mode of inheritance were documented.

What is pterygium syndrome?

General Discussion. Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers.

What is Roberts syndrome?

Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in about half of all people with Roberts syndrome.

What is Marden Walker syndrome?

▼ Description. Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures.

What causes akinesia?

Akinesia in PD can happen as a result of a lack of dopamine. Your brain produces dopamine and passes it along into your body by neurons. Levodopa helps treat akinesia and other PD symptoms because your brain turns it into dopamine.

What does akinetic mean?

Akinetic: Related to the loss of the normal ability to move the muscles.

Why is it called Escobar syndrome?

It however got its name Escobar syndrome in 1982 after Escobar[2] who along with his associates prepared an extensive report on this disease in 1978. The genetic defect of this condition has been identified as the gamma subunit of the nicotinic acetylcholinergic receptor.

What causes pterygium?

Exposure to excessive amounts of ultra-violet (UV) light is thought to be the most significant cause of pterygia. This more common occurs in people living in sunny areas and in people whose jobs expose them to UV light (eg: farmers, fishermen, arc welders).

What is Charlie syndrome?

Definition. Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms).

What is fetal akinesia deformation sequence?

This condition is called fetal akinesia. In these cases, fetuses don’t move as much as they’re supposed to. This condition can also happen with other symptoms. A fetus’ lungs may not develop properly or the baby may be born with abnormal facial features. These symptoms are known as fetal akinesia deformation sequence (FADS).

What is akinesia (loss of ability to move)?

Akinesia is a term for the loss of ability to move your muscles voluntarily. It’s most often described as a symptom of Parkinson’s disease (PD).It can appear as a symptom of other conditions, too.

What is akinesia (c0085623)?

Akinesia (Concept Id: C0085623) Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. Akinesia

What are the symptoms of PSP and akinesia?

Symptoms of PSP that may appear along with akinesia (especially in the face) include: losing vision or having blurred vision. not being able to move the eyes very quickly. not being able to look up and down easily. not being able to keep eye contact for very long. having trouble swallowing.