Sirenomelia: Difference between revisions
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{{Infobox medical condition | |||
| name = Sirenomelia | |||
| image = [[File:Sirenomelia_preparate.jpg|250px]] | |||
| caption = A preserved specimen of sirenomelia | |||
| synonyms = Mermaid syndrome | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Fused lower limbs]], [[renal agenesis]], [[gastrointestinal malformations]] | |||
| complications = [[Renal failure]], [[respiratory distress]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]], [[vascular abnormalities]] | |||
| risks = [[Maternal diabetes]], [[teratogens]] | |||
| diagnosis = [[Prenatal ultrasound]], [[MRI]] | |||
| differential = [[Caudal regression syndrome]], [[VACTERL association]] | |||
| prevention = None | |||
| treatment = [[Surgical intervention]], [[supportive care]] | |||
| prognosis = Poor | |||
| frequency = 1 in 100,000 live births | |||
| deaths = High mortality rate | |||
}} | |||
{{Short description|A rare congenital malformation characterized by fused lower limbs}} | {{Short description|A rare congenital malformation characterized by fused lower limbs}} | ||
[[File:Sirenomelia2.jpg|thumb|upright|Sirenomelia]] | [[File:Sirenomelia2.jpg|left|thumb|upright|Sirenomelia]] | ||
[[File:Sirenomelia.svg|left|thumb|Classification of sirenomelia by the presence or absence of bones within the lower limb.<br> | [[File:Sirenomelia.svg|left|thumb|Classification of sirenomelia by the presence or absence of bones within the lower limb.<br> | ||
'''Sirenomelia''', also known as '''mermaid syndrome''', is a rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. The condition results in the fusion of the legs, giving the appearance of a mermaid's tail, hence the name. Sirenomelia is associated with a range of other malformations, particularly affecting the [[genitourinary system]], [[gastrointestinal tract]], and [[skeletal system]]. | '''Sirenomelia''', also known as '''mermaid syndrome''', is a rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. The condition results in the fusion of the legs, giving the appearance of a mermaid's tail, hence the name. Sirenomelia is associated with a range of other malformations, particularly affecting the [[genitourinary system]], [[gastrointestinal tract]], and [[skeletal system]]. | ||
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==Epidemiology== | ==Epidemiology== | ||
Sirenomelia is an extremely rare condition, with an estimated incidence of 1 in 100,000 live births. It is more common in males than females, with a male-to-female ratio of approximately 3:1. The condition is often associated with [[maternal diabetes]], which is considered a significant risk factor. | Sirenomelia is an extremely rare condition, with an estimated incidence of 1 in 100,000 live births. It is more common in males than females, with a male-to-female ratio of approximately 3:1. The condition is often associated with [[maternal diabetes]], which is considered a significant risk factor. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The exact cause of sirenomelia is not well understood, but it is believed to result from a disruption in the normal development of the caudal region of the embryo. This disruption may be due to abnormal vascular supply, specifically the "steal phenomenon," where the blood supply is diverted from the lower limbs to the upper body, leading to underdevelopment of the lower extremities. | The exact cause of sirenomelia is not well understood, but it is believed to result from a disruption in the normal development of the caudal region of the embryo. This disruption may be due to abnormal vascular supply, specifically the "steal phenomenon," where the blood supply is diverted from the lower limbs to the upper body, leading to underdevelopment of the lower extremities. | ||
==Clinical Features== | ==Clinical Features== | ||
The primary feature of sirenomelia is the fusion of the lower limbs. The degree of fusion can vary, ranging from complete fusion with a single foot to partial fusion with two distinct feet. Other common features include: | The primary feature of sirenomelia is the fusion of the lower limbs. The degree of fusion can vary, ranging from complete fusion with a single foot to partial fusion with two distinct feet. Other common features include: | ||
* Absence or underdevelopment of the [[genitalia]] and [[urinary tract]] | * Absence or underdevelopment of the [[genitalia]] and [[urinary tract]] | ||
* Anomalies of the [[gastrointestinal tract]], such as imperforate anus | * Anomalies of the [[gastrointestinal tract]], such as imperforate anus | ||
* [[Renal agenesis]] or dysgenesis | * [[Renal agenesis]] or dysgenesis | ||
* [[Skeletal abnormalities]], including [[sacral agenesis]] | * [[Skeletal abnormalities]], including [[sacral agenesis]] | ||
==Diagnosis== | ==Diagnosis== | ||
Sirenomelia can often be diagnosed prenatally through [[ultrasound]] imaging, which may reveal the characteristic limb fusion and associated anomalies. Postnatal diagnosis is based on physical examination and imaging studies such as [[X-ray]] and [[MRI]] to assess the extent of the malformations. | Sirenomelia can often be diagnosed prenatally through [[ultrasound]] imaging, which may reveal the characteristic limb fusion and associated anomalies. Postnatal diagnosis is based on physical examination and imaging studies such as [[X-ray]] and [[MRI]] to assess the extent of the malformations. | ||
==Management== | ==Management== | ||
There is no cure for sirenomelia, and management focuses on addressing the associated anomalies and improving the quality of life. Surgical interventions may be necessary to correct gastrointestinal and genitourinary malformations. In some cases, separation of the fused limbs may be attempted, although this is complex and depends on the individual anatomy. | There is no cure for sirenomelia, and management focuses on addressing the associated anomalies and improving the quality of life. Surgical interventions may be necessary to correct gastrointestinal and genitourinary malformations. In some cases, separation of the fused limbs may be attempted, although this is complex and depends on the individual anatomy. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with sirenomelia is generally poor, with a high rate of stillbirth or early neonatal death due to severe malformations, particularly of the renal and respiratory systems. However, there have been rare cases of long-term survival with extensive medical and surgical management. | The prognosis for individuals with sirenomelia is generally poor, with a high rate of stillbirth or early neonatal death due to severe malformations, particularly of the renal and respiratory systems. However, there have been rare cases of long-term survival with extensive medical and surgical management. | ||
==See also== | |||
== | |||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
* [[Caudal regression syndrome]] | * [[Caudal regression syndrome]] | ||
* [[VACTERL association]] | * [[VACTERL association]] | ||
{{Medical resources | {{Medical resources | ||
| DiseasesDB = | | DiseasesDB = | ||
| ICD10 = {{ICD10|Q|87|2|q|80}} | | ICD10 = {{ICD10|Q|87|2|q|80}} | ||
| ICD9 = {{ICD9|759.89}} | | ICD9 = {{ICD9|759.89}} | ||
| ICDO = | | ICDO = | ||
| OMIM = | | OMIM = | ||
| MedlinePlus = | | MedlinePlus = | ||
| eMedicineSubj = | | eMedicineSubj = | ||
| eMedicineTopic = | | eMedicineTopic = | ||
| MeshID = D004480 | | MeshID = D004480 | ||
}} | }} | ||
Latest revision as of 20:51, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Sirenomelia | |
|---|---|
| |
| Synonyms | Mermaid syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Fused lower limbs, renal agenesis, gastrointestinal malformations |
| Complications | Renal failure, respiratory distress |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, vascular abnormalities |
| Risks | Maternal diabetes, teratogens |
| Diagnosis | Prenatal ultrasound, MRI |
| Differential diagnosis | Caudal regression syndrome, VACTERL association |
| Prevention | None |
| Treatment | Surgical intervention, supportive care |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | 1 in 100,000 live births |
| Deaths | High mortality rate |
A rare congenital malformation characterized by fused lower limbs
[[File:Sirenomelia.svg|left|thumb|Classification of sirenomelia by the presence or absence of bones within the lower limb.
Sirenomelia, also known as mermaid syndrome, is a rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. The condition results in the fusion of the legs, giving the appearance of a mermaid's tail, hence the name. Sirenomelia is associated with a range of other malformations, particularly affecting the genitourinary system, gastrointestinal tract, and skeletal system.
Epidemiology[edit]
Sirenomelia is an extremely rare condition, with an estimated incidence of 1 in 100,000 live births. It is more common in males than females, with a male-to-female ratio of approximately 3:1. The condition is often associated with maternal diabetes, which is considered a significant risk factor.
Pathophysiology[edit]
The exact cause of sirenomelia is not well understood, but it is believed to result from a disruption in the normal development of the caudal region of the embryo. This disruption may be due to abnormal vascular supply, specifically the "steal phenomenon," where the blood supply is diverted from the lower limbs to the upper body, leading to underdevelopment of the lower extremities.
Clinical Features[edit]
The primary feature of sirenomelia is the fusion of the lower limbs. The degree of fusion can vary, ranging from complete fusion with a single foot to partial fusion with two distinct feet. Other common features include:
- Absence or underdevelopment of the genitalia and urinary tract
- Anomalies of the gastrointestinal tract, such as imperforate anus
- Renal agenesis or dysgenesis
- Skeletal abnormalities, including sacral agenesis
Diagnosis[edit]
Sirenomelia can often be diagnosed prenatally through ultrasound imaging, which may reveal the characteristic limb fusion and associated anomalies. Postnatal diagnosis is based on physical examination and imaging studies such as X-ray and MRI to assess the extent of the malformations.
Management[edit]
There is no cure for sirenomelia, and management focuses on addressing the associated anomalies and improving the quality of life. Surgical interventions may be necessary to correct gastrointestinal and genitourinary malformations. In some cases, separation of the fused limbs may be attempted, although this is complex and depends on the individual anatomy.
Prognosis[edit]
The prognosis for individuals with sirenomelia is generally poor, with a high rate of stillbirth or early neonatal death due to severe malformations, particularly of the renal and respiratory systems. However, there have been rare cases of long-term survival with extensive medical and surgical management.
See also[edit]
| Congenital abnormality syndromes | ||||||
|---|---|---|---|---|---|---|
|
