Rare diseases are those that influence just a little level of the total population, with researchers battling to discover causes and fixes. These diseases can be genetic and appear in early life so in this article we will discuss these rare diseases.

Hutchinson- Gilford Progeria Syndrome (HGPS)

This disease is uncommon and present in children from the first two years of life.

Children with this syndrome generally appear normal at birth.

What are the symptoms of Hutchinson- Gilford Progeria Syndrome?

Signs of Hutchinson- Gilford Progeria Syndrome (HGPS) are given below:

. Baldness

. Enlarged head with small faces

. Limited body movement

. Growth delay

. Hip dislocations

Is there any treatment for Hutchinson- Gilford Progeria Syndrome (HGPS)?

For this syndrome, the Lonafarnib drug is used as a treatment. It improves hearing, bone structure, and blood vessels but there is no permanent cure for progeria.


It is a very rare disease and it occurs from infections that are growing in the human brain. Kuru is found among people from New Guinea who practiced a form of cannibalism in which they ate the brains of dead people as part of a funeral ritual.

What are the symptoms of Kuru?

Signs of Kuru disease are given below:

. Patient face muscle jerks

. Suffer from headache and pain in leg and arm

. Facing difficulty in walking and swallowing

Is there any treatment of Kuru?

No, there is no permanent treatment of Kuru.

Fibrodysplasia ossificans progressive syndrome

Fibrodysplasia ossificans progressive is also called Stoneman syndrome. This disorder occurs in connective tissues and creates deformation in the toes, thumbs, progressive heterotopic ossification of skeletal muscles.

 What are the symptoms of Fibrodysplasia ossificans progressive syndrome?

The signs of this syndrome are given below:

. Painful fibrous nodules occur

. Tumor like swelling occurs over the neck, back, and shoulder

. Suffer from joint stiffness

. Fever

Is there any treatment for Fibrodysplasia ossificans progressive syndrome?

There is no permanent treatment of Fibrodysplasia ossificans progressive syndrome. It was only removed by surgery.


It is a very uncommon skin disease in which black hairs or fibers appear on the skin which causes pain and sensations.

What are the symptoms of Morgellons syndrome?

Signs of Morgellons syndrome are given below:

. You feel itchiness, crawling, stinging, and biting sensations

. Black hairs are appear

. Threads or specks under the skin

. Rashes and sores

. Change in vision

. Memory loss

Is there any treatment for Morgellons syndrome?

Morgellons syndrome is treated by topical treatment. On the other side, doctors think this condition occurs due to mental health issues, so then they prescribe psychiatric medications or therapy.

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Methemoglobinemia is the syndrome in which your body cannot get proper oxygen and due to this, your body color converts to blue.

What are the symptoms of Methemoglobinemia?

Signs of Methemoglobinemia are given below:

. Your body color change into blue

. You are suffering from shortness of breath

. You feel headache and dizziness

. Hairlines are loss

. You have anemia

. You are suffering from cardiovascular and lungs disease

Is there any treatment for Methemoglobinemia?

Yes, the doctor prescribes Methylene blue supplements which provide proper oxygen to your body.


Microcephaly syndrome is developed by birth. In this condition, the baby’s head is so smaller than normal it means the baby’s brain is not properly developing.

What are the symptoms of Microcephaly?

Signs of Microcephaly are given below:

. Due to this syndrome, the life experience is reduced

. Reduce head size

. Dwarfism

. Suffer from speech delay

. Seizures and convulsions

. Impaired motor ability and clumsiness

Is there any treatment for Microcephaly?

There is no treatment for microcephaly syndrome but individuals can grow normally and develop intelligence.

Parry-Romberg syndrome

Parry-Romberg is a very infrequent disorder and it is more common in females than males. In this syndrome, your skin tissue becomes soft of half of the face, usually the left side of the face.

What are the symptoms of Parry-Romberg syndrome?

Signs of Parry-Romberg syndrome are given below:

. Atrophy of the skin and connective tissue usually on the face

. Hair loss

. Scarring

. Pigmentation reduction in the skin

. Pain in the tissues

. Migraines

. Suffer from visual abnormality such as drooping of an eyelid

. Nausea and vomiting

. Dental abnormality

Is there any treatment for Microcephaly?

For this syndrome, the Immununosupper drug is used that helps skin, fat, and tissue grafts.


If anyone in your surroundings and in your family suffers from any of this syndrome immediately consult with the general physician in Pakistan through InstaCare.


What are the top 10 rarest diseases in the world?

 . Water allergy

. Foreign accent syndrome

. Laughing Death

. Fibrodysplasia ossificans progressive (FOP)

. Alice in Wonderland syndrome

. Porphyria

. Pica

. Moebius syndrome

Name the diseases which have no permanent cure?

. Cancer

. Dementia

. Alzheimer's disease

. Lung, heart, kidney, and liver disease

. Stroke and other neurological diseases

Name the disease that turns you to stone?

Living with scleroderma