Occipital horn syndrome

Formerly considered an Ehlers–Danlos type IX syndrome, occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the patient reaches adulthood. As an X-linked disease, it typically occurs in male subjects, while female subjects are usually healthy carriers.

OHS is mainly characterized by connective tissue disorders and slightly subnormal intelligence or signs of autonomic dysfunction are the only apparent neurological abnormalities, in connection with molecular defects in copper metabolism.

The main clinical features, including cutis laxa, bony exostoses, and bladder diverticula are attributed to a decreased activity of lysyl oxidase (LOX), a cupro-enzyme involved in collagen crosslinking.

Occipital horn syndrome patients have low-normal levels of serum copper and ceruloplasmin and abnormal plasma and CSF catecholamines.

Patients may show mild to moderate intellectual disability. Symptoms of OHS usually begin in early childhood. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and dysfunction of the nerves that regulate nonvoluntary body functions (dysautonomia). Other symptoms may include bladder diverticula, coarse hair, low muscle tone, and mild intellectual disability.
Occipital horn syndrome

Joint Hypermobility Syndrome: Description And Symptoms

Experts estimate that up to 10% of the general population may have some degree of hypermobility, with women affected about three times more often than men.

Occasionally considered a milder variant of Ehlers-Danlos syndrome, Joint hypermobility syndrome (JHS) was originally perceived as a purely local articular problem affecting otherwise healthy people, whose range of joint motion happen to lie at the upper end of a normal range, and who suffer mechanical joint problems (pain, instability, dislocation, and premature osteoarthritis).

Joint hypermobility syndrome also known as benign hypermobility syndrome is now described as a heritable connective tissue disorder in its own right, caused by an undetermined genetic abnormality affecting one of the connective tissue matrix proteins

Patient with Joint hypermobility syndrome suffer chronic joint pain and other symptoms related to their hypermobility or to the looseness of other tissues that often accompanies hypermobility.

Frequently, people who suffer from hypermobility syndrome are called hypochondriacs or lazy because they will avoid many daily activities, because these activities would cause them pain. Most of them don’t look sick therefore, friends, colleagues, and even doctors can be unsympathetic.

People with Joint hypermobility syndrome often develop chronic joint pain and stiffness, most frequently in the larger joints; for example, the joints of the neck, shoulders, back, hips, and knees, though, smaller joints such as the ankles, wrists, and elbows often are affected as well.

Many researches show that patients of all races and age groups are affected with Joint hypermobility syndrome, although it is more prevalent in children and adolescents, who tend to have greater mobility of joints.
Joint Hypermobility Syndrome: Description And Symptoms

The Antley–Bixler syndrome

Antley-Bixler syndrome (ABS) is an autosomal recessive, exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. It is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. The disorder is typically associated with premature closure of joints (cranial sutures) between particular bones of the skull (craniosynostosis).

It was first described in 1975 by Antley and Bixler, and since then fewer than 50 cases have been reported in the literature.

Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.

Antley-Bixler syndrome primarily manifests with brachycephali, sever mid-face hypoplasia, craniosynostosis, radiohumeral synostosis, femoral bowing and spontaneous long-bone fractures. Other manifestations comprise choanal atresia as well as stenosis, loss of hearing, agenesis of kidneys, proptosis, arachnodactilia, heart malformations and, in some patients, disordered steroidogenesis and ambiguous genitalia.

The exact causes of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition.
The Antley–Bixler syndrome

Kartagener syndrome

Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Its incidence is about 1 in 30, 000 live births.

Siewert first described the combination of situs inversus, chronic sinusitis, and bronchiectasis1 in 1904. However, Manes Kartagener first recognized this clinical triad as a distinct congenital syndrome in 1933.

Typical symptoms of chronic sinusitis, bronchitis, bronchiectasis are severer in the first decade of life, moderating within the second decade. Severe cases of KS could be fatal unless lung transplant is carried out. A small percentage of the KS patients present with hydrocephalus.

Patients generally present with recurrent upper and lower respiratory tract infection because of ineffective mucociliary clearance. As sperm mortility is dependent on ciliary function, males are generally sterile.
Kartagener syndrome

Ehlers-Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders. It characterized by remarkable joint hypermobility, abnormal skin texture and tissue fragility (including skin fragility with abnormal scarring, vascular fragility with easy bruisability and a variable bleeding tendency) and other manifestations of generalized soft connective tissue fragility.

Different defects in the synthesis of collagen lead to an increased elasticity within different types of connective tissue (skin, joints, muscles, tendons, blood vessels and visceral organs). Depending on the specific subtype and individual aspects, defects are mild to life threatening.

The 1997 Villefranche classification of EDS was based on the identification of genetic alterations affecting the synthesis and structure of type I, III and V collagen.1 Since then, the molecular genetic basis of other types of EDS has been delineated and a further classification is due.

The hypermobile type of EDS (EDS III) is characterized by marked joint hypermobility, moderate skin involvement, and an absence of tissue fragility. It is inherited as an autosomal dominant trait; the underlying defect is unknown.

Ehlers-Danlos syndrome

Kallmann syndrome

Kallmann syndrome is a very rare hereditary disease. It is a disease that results from a deficiency of gonadatropin-releasing hormone (GnRH) from the hypothalamus and that is associated with anosmia (loss of the sense of smell). Without the anosmia, the condition is called idiopathic hypogonadatropic hypogonadism.

The GnRH deficiency stems from a congenital defect in neurons on the hypothalamus that lead to a deficiency of GnRH. These hormones direct sexual development. Men with the condition often have small sex organs; undescended testes, which is a condition called chryptorchidism: and lack of secondary sex characteristics such as facial hair and lower male voice. Women may not have a monthly menstrual period and may have little or no breast development.

This is a rare disorder with an estimated male prevalence varying from 1 in 10, 000 to 1 in 86, 000, according to different studies. Some of the genes involved in the pathogenesis of this syndrome have been identified, the most important one being the KAL 1 gene. When mutant, this gene leads to gonadotropin-releasing hormone deficiency and anosmia due to abnormalities of neuronal migration.
Kallmann syndrome

Asperger syndrome

Although a group of children with this clinical picture was originally and very accurately described in the 1940's by a Viennese pediatrician, Hans Asperger, Asperger Syndrome (AS) was "officially" recognized in the Diagnostic and Statistical Manual of Mental Disorders for the first time in the fourth edition published in l994.

Asperger’s Syndrome is a neurological/biological disorder, not a psychological or emotional condition. It is a lifelong neurodevelopmental condition. Incidence is more in males as compared to females.

Asperger syndrome (AS), also known as Asperger’s, is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests.

It is sometimes viewed as a high functioning form of autism, is a neuro-developmental condition that is one of the Pervasive Developmental Disorders (PDD) or Autism Spectrum Disorders (ASD).

Some of the symptoms that may be present are:
*Less social active
*Less friends
*Not interested in making friends
*Inability to express emotions
*No Eye contact
*Less facial expressions
*Inability to use gestures
*Ineffective communication
*Lack of relation
*Sensitive to external stimuli
*Dependent
*Repetitive actions like arm waving

Individuals with Asperger’s have average or higher intelligence, with many exhibiting exceptional skills, knowledge or abilities. They can experience other difficulties, including medical issues, differences in coordination & muscle tone, sleep disturbances, altered eating habits, anxiety or disordered sensory perceptions.

Adults with Asperger syndrome can also be very sensitive to sensory stimulation (lights, sounds, smells, tastes, touch), and have difficulties with their executive functioning (e.g. ability to plan and organize, manage time, getting started on tasks, doing more than one task at once).
Asperger syndrome

Sir Anthony Hopkins has mild Asperger’s. The actor said it has helped him get into roles as an actor.

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome comprises a group of clinically and genetically heterogeneous, inherited connective tissue diseases.

Connective tissue provides support to many parts of body like skin, muscles, and ligaments. People with EDS may have fragile skin or unstable joints. Different defects in the synthesis of collagen lead to an increased elasticity within different types of connective tissue (skin, joints, muscles, tendons, blood vessels and visceral organs).

The Ehlers Danlos syndromes (EDS) have fascinated people throughout the ages. The first report of this disorder dates back to Hippocrates (fourth century BC).

For many centuries, affected individuals earned their livings as The Elastic Skin Man, The India Rubber Man and The Human Pretzel, amazing their audiences in fairgrounds and circus side shows by exhibiting contortionist tricks and a remarkable ability to stretch their skin.

People with this condition have loose joints and frequently have long-term joint pain. Characteristics range from mild, such as loose joints, to severe, such as functional bowel disorders and incisional hernias. The joints and skin are most commonly affected. Joints may have a wide range of movement (hypermobility), be unstable, and tend to move out of place (dislocate) frequently. The shoulder, knee, and jaw are some of the joints that dislocate most often.

About 1 in every 20,000 babies is born with EDS. It can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner. There are at least 9 different types of EDS.
• The most common form of EDS is EDS Hypermobility Type (formerly known as Type III)
• Followed by EDS Classical Type (formerly known as Type I and Type II) and
• EDS Vascular Type (formerly known as Type IV)
Ehlers-Danlos Syndrome (EDS)

Symptoms of Cushing syndrome

Cushing syndrome is the result of prolonged excessive secretion of cortisol and perhaps other steroids by the adrenal cortex.

Most cases are caused by bilateral adrenal hyperplasia, which arises through excessive secretion of adrenocorticotrophin by a pituitary tumor. Cushing’s syndrome may also due to an adenoma or a carcinoma of the adrenal.

The most common signs and symptoms of Cushing’s syndrome are centripetal obesity, hirsutism, menstrual irregularities, decreased libido, impotence, hypertension, proximal weakness, red to purple striae, acne, and easy bruisability.

Fatty deposits, especially in the midsection, the face (causing a round, moon-shaped face), and between the shoulders and the upper back (causing a buffalo hump). Purple stretch marks on the breasts, arms, abdomen and thighs. Growth arrest and obesity are characteristic of children.

Some evidence suggests that mixed anxiety and depressive symptoms may be the most common psychiatric manifestation of Cushing’s syndrome. Other common symptoms include impaired glucose tolerance or diabetes mellitus.
Symptoms of Cushing syndrome

Eaton-Lambert syndrome

Lambert-Eaton syndrome, also known as Lambert-Eaton myasthenic syndrome, is a rare neuromuscular disorder in which IgG antibodies attacks the neuromuscular junctions — the areas where human nerves and muscles connect.

The weakness in patients with the Eaton-Lambert syndrome results from a presynaptic abnormality that results in a decrease in the quanta of acetylcholine released by the passage of the nerve impulse, although each quantum released is normal.

It seems that the Eaton-Lambert syndrome is caused by antibody-mediated autoimmune response that down-regulates the voltage-gated calcium channel and thereby impairs the calcium-dependent release of acetylcholine from the presynaptic active zone.

Muscle weakness in Eaton-Lambert syndrome tends to be symmetrical and is most pronounced in the lower extremities. Altered gait after prolonged walking usually is the initial symptom. This weakness may progress to inability to rise from a chair or walk up stairs.
Eaton-Lambert syndrome

Raynaud’s syndrome

Named for the French doctor Maurice Raynaud (1834-1881), who first described it Raynaud’s syndrome or Raynaud’s or Raynaud’s phenomenon is a condition disorder of the small blood vessel that feed the skin.

During an attack of Raynaud’s, these arteries contract briefly limiting blood flow. This is called a vasospasm; the attacks are vasospastic attacks. When deprived of the blood’s oxygen, the skin first turns white then blue.

The skin turns red as the arteries relax and blood flows again. The spasms may last a few minutes or several hours. Most often affecting young women age 18-30, in whom it appears 20 times more than often than in men, happened especially during cold weather. It also can happened after exposure to changes in temperature, either hot or cold, as well as emotional situations.

Over time the skin of the fingers becomes smooth and shiny, and the blood vessels become smaller in diameter and lessen blood flow, and small painful ulcers may appear., which left untreated, may progress to gangrene.

Symptoms include changes in skin color and skin temperature where the affected are feels cooler.. Usually there is no pain, but it is common for affected area to feel numb or prickly, as if it has fallen asleep.

Two types of Raynaud’s:
*Primary Raynaud’s or Raynaud’s disease
*Secondary Raynaud’s Primary

Raynaud’s also known as Raynaud’s disease, idiopathic Raynaud’s phenomenon, or primary Raynaud’s syndrome.

Secondary Raynaud’s involves an underlying medical condition, such as systemic lupus, pulmonary hypertension, a nerve problem, or rheumatoid arthritis.
Raynaud’s syndrome

Laron syndrome

Laron syndrome is a disease characterized by resistance to growth hormone (GH) and usually due to mutations within the gene coding the growth hormone receptor (GHR).

It causes dwarfism, obesity and biochemical changes resembling growth hormone deficiency.

The reason is lack of endogenous circulating IGF-I which is dependent hormone.

Clinical features of Laron syndrome including a protruding forehead, and short face with a pug nose. The lower jaw was underdeveloped and the permanent teeth grew irregularity early and were crowded.

The circumference of the head was very small and when viewed form the front, was widest near the top of the skull.
Laron syndrome

What is Cushing’s syndrome?

Cushing’s syndrome is a clinical condition resulting from prolonged exposure to excessive glucocorticoid from either endogenous or exogenous.

In 1927, F. A. Hartman suggested that the general function of the adrenal gland was production of hormone, and in 1929 he demonstrated that adrenal extract sustained life in animals without adrenal gland.

In 1899 William Osler first described what became known s Cushing’s syndrome and the adrenal tumor was confirmed by Parkes-Weber in 1913.

Harvey Cushing, the famed Harvard neurosurgeon, described the first case of Cushing’s syndrome with a severe phenotype in 1912. Since then investigation and management of Cushing’s syndrome has remained a significant clinical challenge.

Cushing’s disease is usually caused by adrenocorticotropic hormone ACTH - secreting pituitary adenoma. 

Cushing’s disease accounts for 70% of all cases of Cushing’s syndrome and is due to a microadenoma of the pituitary in over 90% of cases.

Some of the most frequent clinical signs of Cushing’s syndrome, such as obesity, hypertension, and glucose intolerance are also common in hypertensive patients without glucocorticoid excess.
What is Cushing’s syndrome?