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is diprosopus a genetic disorder

by Rosalee Conn IV Published 3 years ago Updated 2 years ago
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Diprosopus is an extremely rare congenital anomaly involving craniofacial duplication. The etiology and pathophysiology remain unknown, and no genetic mutations have been definitively associated with the condition.

Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations.Jul 31, 2014

Full Answer

What is diprosopus?

Let us know! Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body.

Is diprosopus a congenital anomaly?

Background: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. Methods: This is a systematic review of published cases and the presentation of two new cases born in Argentina.

What are the signs and symptoms of diprosopia?

The signs and symptoms of Diprosopia may include: Partial or complete duplication of the facial structures on a single head, neck, trunk and body Congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems Cleft lip

What is the prevalence of diprosopus in the US?

Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes.

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What type of mutation is diprosopus?

Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree.

What causes diprosopus?

Although classically considered conjoined twinning (which it resembles), diprosopus is not normally due to the fusion or incomplete separation of two embryos. It is the result of abnormal activity by the protein SHH (sonic hedgehog).

How is diprosopus diagnosed?

Prenatal ultrasonography, CT scan, and MRI can detect diprosopus in cases with a high degree of suspicion. Most of the patients are stillbirth, and overall survival in live birth is poor due to multiple associated anomalies.

Can diprosopus twins live?

Though most media reports say none of these infants has survived, most having been stillborn, a girl born with two faces in India in 2008 lived two months, and the Dexter Daily Statesman in March profiled Missouri's Tres Johnson, a "little miracle" born with diprosopus who is now age 10.

Can a person have two different faces?

Having an asymmetrical face is both normal and common. Often it is the result of genetics, aging, or lifestyle habits. While a person may notice their own facial asymmetry, other people will probably not be aware of them.

What is parasite twin?

A parasitic twin is a type of conjoined twin where one fetus stops developing but remains attached to its twin. The other twin continues to develop, but is usually born with the limbs, organs or other tissue structures from its parasitic twin still attached. It's a very rare condition. Appointments 216.444.6601.

Are there conjoined triplets?

Conjoined triplets are among the rarest of human malformations, as are asymmetric or parasitic conjoined twins.

What causes conjoined twins?

Conjoined twins are caused by two embryos that are joined together during fertilization, resulting in twins that are physically connected, most commonly at the abdomen, chest or head. Conjoined twins are rare.

How does Siamese twins happen?

Conjoined twins develop when an early embryo only partially separates to form two individuals. Although two babies develop from this embryo, they remain physically connected — most often at the chest, abdomen or pelvis. Conjoined twins may also share one or more internal body organs.

Is diprosopus 2 people?

1:3311:25My Friend with Diprosopus (Two Faces) - YouTubeYouTubeStart of suggested clipEnd of suggested clipIt's a real joy to be here with you today. And it brings me happiness making a new friend. And I'mMoreIt's a real joy to be here with you today. And it brings me happiness making a new friend. And I'm glad you feel comfortable being around me touching my scruffy beard. Because I feel comfortable

Can a baby survive without brain?

Anencephaly is a fatal condition. Most babies with anencephaly pass away before birth, and the pregnancy ends in miscarriage. Babies born with anencephaly die within a few hours, days or weeks. Infants who survive at birth may seem to respond to touch or sound, but these responses are involuntary.

Has there ever been someone born with 2 faces?

A baby with two faces was born in a northern Indian village, where she is doing well and is being worshipped as the reincarnation of a Hindu goddess, her father said Tuesday. The baby, Lali, apparently has an extremely rare condition known as craniofacial duplication, where a single head has two faces.

What causes conjoined twins?

Conjoined twins are caused by two embryos that are joined together during fertilization, resulting in twins that are physically connected, most commonly at the abdomen, chest or head. Conjoined twins are rare.

How does Siamese twins happen?

Conjoined twins develop when an early embryo only partially separates to form two individuals. Although two babies develop from this embryo, they remain physically connected — most often at the chest, abdomen or pelvis. Conjoined twins may also share one or more internal body organs.

Can craniopagus twins be separated?

During the past half century craniopagus twins have challenged the capability of neurosurgeons. With modern neuroimaging and neurosurgical techniques it is now possible to separate such twins successfully.

Are there conjoined triplets?

Conjoined triplets are among the rarest of human malformations, as are asymmetric or parasitic conjoined twins.

What is a diprosopus?

Diprosopus. Diprosopus ( Greek: διπρόσωπος, "two-faced", from δι-, di-, "two" and πρόσωπον, prósopon [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek κρανίον, "skull", the other parts Latin), is an extremely rare congenital disorder whereby parts ...

What is the role of SHH in craniofacial development?

Among other things, SHH governs the width of facial features. In excess it leads to widening of facial features and to duplication of facial structures.

Why is diprosopus not normally formed?

Although classically considered conjoined twinning (which it resembles), diprosopus is not normally due to the fusion or incomplete separation of two embryos. It is the result of abnormal activity by the protein SHH (sonic hedgehog). (The name of this protein was inspired by the Sonic the Hedgehog video game character and is part ...

What is diprosopus congenital?

Diprosopus often occurs in combination with other congenital disorders, particularly anencephaly, neural tube defect and cardiac malformations. When present, the brain may show abnormalities ranging from partial to complete duplication of brain structures, and/or underdevelopment of brain tissues.

What is the function of SHH in the brain?

During embryonic development, SHH directs embryonic cells to organize in specific areas that later become specialized neural tissues, thus controlling the size and shape of brain structures.

How many eyes did the sailor have?

Her facial features included two pairs of eyes, two noses, and two mouths (but only one pair of ears).

How long can a human live with diprosopus?

Most human infants with diprosopus are stillborn. Known instances of humans with diprosopus surviving for longer than minutes to hours past birth are very rare; only a few are recorded. In 2002 and 2003, two living male infants with partial diprosopus were described in the medical literature in separate case reports.

How many cases of diprosopus are there?

Most infants with diprosopus are stillborn and there are fewer than fifty cases documented since 1864. Researchers have proposed several mechanisms to explain the phenomenon of craniofacial duplication. When two completed identical faces are present, researchers often class diprosopus as a rare variant of conjoined twinning.

What is a diprosopus?

Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree. A less severe instance is when the fetus has a duplicated nose and the eyes are spaced far apart. In the most extreme instances, the entire face is duplicated, hence the name diprosopus, which is Greek for two-faced. Fetuses with diprosopus often also lack brains (anencephaly), have neural tube defects, or heart malformations. In some cases, if the brain is formed, it may have duplicated structures. Most infants with diprosopus are stillborn and there are fewer than fifty cases documented since 1864.

What percentage of conjoined twins have diprosopus?

Only 0.4 percent of conjoined twins have diprosopus. Another possible cause for the anomaly is an increase in the expression of the protein Sonic hedgehog (SHH), which is essential for craniofacial patterning during development. In experiments on chicks, researchers replicated many of the phenotypes associated with craniofacial duplication by ...

What is the name of the fetus with a double nose?

In the most extreme instances, the entire face is duplicated, hence the name diprosopus, which is Greek for two-faced.

Can diprosopus be detected in utero?

Too little SHH can also affect midline facial structuring, and cause the developing eyes to fuse together ( cyclopia ). Diprosopus can be discovered in utero using technology such as ultrasound, computer tomography (CT) scanning, magnetic resonance imaging (MRI), and MR angiography.

Can you cure diprosopus?

One of the first indications of craniofacial duplication is polyhydramnios, a condition in which there is an abnormally high amount of amniotic fluid present within the amniotic sac. No treatment exists to cure diprosopus, although therapeutic abortion is sometimes an option if the condition is discovered early enough in the pregnancy.

How can Diprosopia be Prevented?

Diprosopia may not be preventable, since the cause of this congenital disorder is unknown

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What is the cause of diprosopia?

The exact underlying cause of Diprosopia is currently unknown.

What is the name of the condition where the facial structures are duplicated?

Diprosopia, also known as Diprosopus, is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body

Is diprosopia a poor disease?

The prognosis of Diprosopia is poor, with very few affected individuals sur viving after birth

Can complications occur without treatment?

Complications may occur with or without treatment, and in some cases, due to treatment also.

Can clinical conditions have similar symptoms?

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

1. Progeria

This is a rare disease that makes the body of the child age faster than normal. In simple words, a child’s body resembles an old person body even before they reach the age of adolescence. The maximum age seen in a child having Progeria is 13.

2. Hypetrichoosis

Aka werewolf syndrome is the growth of an abnormal amount of hairs on the body. This growth is spread on the entire body. Hypertrichosis is so rare that there are only 50 known cases of it in the world.

3. Fibrodysplasia Ossificans Progressiva

When the muscles tissues of the body are replaced with bones that condition is called Fibrodysplasia Ossificans Progressiva. This occurs in 1 out of 2 million people.

4. Epidermolysis Bullosa

It’s a skin disorder that makes skin so soft that even the rarest amount of friction results in scar or blister. Skin starts to develop blisters outside or inside which makes normal tasks very difficult. In this condition itching and ticking are impossible without some serious consequences.

5. Hydrocephalus

It’s a rare condition that fills the skull of a person with cerebrospinal fluid. This is a dangerous condition as it puts high pressure on the brain. It’s rare as it only occurs in 1.5 per 1000 babies.

6. Proteus syndrome

It is an extremely rare condition as there are only around 1000 known cases of this disorder. This soft tissue or bone of a person starts overgrowing abnormally which makes that specific organ whose tissue or bone is growing bigger than the rest of the body.

7. Epidermodysplasia Verruciformis

This disorder is so rare that only around 200 cases are known. The exact frequency of this disorder is missing. In this condition, skin starts growing wartv especially on hands and legs and these warts get harden and big with time. This condition is also associated with skin cancer which makes it a more fatal disease.

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1.Diprosopus symptoms & causes - FDNA Telehealth

Url:https://fdna.health/syndromes/diprosopus

16 hours ago Diprosopus is a rare disease. There are currently no additional known synonyms for this rare genetic disease. This condition is characterised by the presence of two faces on a single head. …

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Url:https://en.wikipedia.org/wiki/Diprosopus

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3.Is Diprosopus genetic? - Quora

Url:https://www.quora.com/Is-Diprosopus-genetic

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Url:https://embryo.asu.edu/pages/diprosopus-craniofacial-duplication

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Url:https://www.ncbi.nlm.nih.gov/gtr/conditions/C0266731/

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7.Diprosopus: Systematic review and report of two cases

Url:https://pubmed.ncbi.nlm.nih.gov/27704687/

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