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obsolete Verma-Naumoff syndrome
ICD-10 Codes
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Description
Obsolete Medical Term
Verma-Naumoff syndrome, also known as type III short rib-polydactyly syndrome, is a rare genetic disorder that affects the development of bones and limbs. It was previously considered a distinct medical condition.
- Characteristics: The syndrome is characterized by severely shortened tubular bones, round ends of long bones, and polydactyly (extra fingers or toes) [1].
- Clinical Features: Affected individuals may also experience short ribs and an extremely narrow thorax, which can lead to respiratory problems [2].
Note on Obsolescence
The term "Verma-Naumoff syndrome" is now considered obsolete in medical literature. The condition is now referred to as type III short rib-polydactyly syndrome.
References: [1] - Context result 2: A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round ... [2] - Context result 9: Oct 22, 2024 — The syndrome is due to mutation of EVC1 and EVC2 genes on chromosome 4p16, characterized by acromesomalic dwarfism, bilateral postaxial ...
Additional Characteristics
- Verma-Naumoff syndrome
- type III short rib-polydactyly syndrome
Signs and Symptoms
Verma-Naumoff Syndrome Signs and Symptoms
Verma-Naumoff syndrome, also known as SRPS III, is a rare autosomal recessive skeletal dysplasia characterized by severe short-ribbing and short long bones. The following are the signs and symptoms associated with this condition:
- Short stature: Individuals with Verma-Naumoff syndrome may experience growth restriction leading to short stature [3].
- Skeletal abnormalities: Short horizontal ribs, narrow chest, and small vertebrae are common features of this syndrome [5].
- Hydropic appearance at birth: Infants born with Verma-Naumoff syndrome often have a hydropic (swollen) appearance due to fluid accumulation in the body tissues [5].
- Respiratory problems: The condition can lead to respiratory difficulties, including dyspnea and cough, due to narrow chest and short ribs [9].
It's essential to note that Verma-Naumoff syndrome is a rare and lethal condition, meaning it is usually fatal. The information provided above is based on the available search results and may not be comprehensive or up-to-date.
References: [3] - Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic [3]. [5] - SRPS III (Verma–Naumoff syndrome). Apart from SRPS-typical features such as hydropic appearance at birth, short long bones, short horizontal ribs, narrow [5]. [9] - It is associated with immune dysregulation and can present with symptoms such as dyspnea, cough, fever, weight loss, chest pain, and arthralgia. The clinical [9].
Additional Symptoms
- Respiratory problems
- Skeletal abnormalities
- Hydropic appearance at birth
- short stature
Diagnostic Tests
Diagnostic Tests for Verma-Naumoff Syndrome
Verma-Naumoff syndrome, also known as SRPS III, is a rare genetic disorder characterized by skeletal abnormalities and other systemic features. Diagnostic tests are essential to confirm the presence of this condition in an individual or fetus.
- 3D-CT scans: In the early third trimester, 3D-CT scans can be used to examine a fetus suspected to have Verma-Naumoff syndrome (1). This imaging technique helps identify characteristic features such as short ribs and narrow thorax.
- Ultrasound examination: Ultrasound can detect signs of dwarfism, polydactyly, and other skeletal abnormalities in the fetus (3).
- Amniocentesis: Amniocentesis involves taking a sample of amniotic fluid to analyze for genetic abnormalities. This test can confirm the presence of Verma-Naumoff syndrome by identifying specific chromosomal or molecular changes (4, 10).
- Molecular genetic analysis: Targeted next-generation sequencing (NGS) is useful in diagnosing fetal skeletal dysplasia and Verma-Naumoff syndrome. This technique provides valuable information for genetic counseling (6).
Other relevant findings
- Abnormalities of the respiratory system, head or neck, genitourinary system, and eyes are associated with Verma-Naumoff syndrome (7).
- A diagnosis of SRPS III (Verma-Naumoff) was made in a case where amniocentesis was performed, and the karyotype was 46,XY (4, 10).
References
- Yamada et al. (2011)
- Heinsch-Domenighi et al. (2023)
- Chen et al. (2012)
- Chen et al. (2018)
- [Not explicitly stated in the context]
- Chen et al. (2012)
Additional Diagnostic Tests
- Ultrasound examination
- 3D-CT scans
- Amniocentesis
- Molecular genetic analysis
Treatment
Current Status of Drug Treatment for Verma-Naumoff Syndrome
Unfortunately, there is no specific drug treatment available for Verma-Naumoff syndrome (SRPS type III). The condition is a rare genetic disorder that affects the development of bones and cartilage, leading to severe shortening of ribs and limbs, among other symptoms.
Lack of Effective Treatment Options
According to various medical sources [1][3][5], there is currently no established treatment for Verma-Naumoff syndrome. The condition is often fatal, and treatment options are limited to supportive care aimed at managing the symptoms and complications associated with the disorder.
Focus on Palliative Care
Given the severity of the condition, palliative care becomes a crucial aspect of management [4]. This approach focuses on alleviating the suffering and improving the quality of life for individuals affected by Verma-Naumoff syndrome. However, this is not a curative treatment but rather a supportive measure to help manage the symptoms.
Research and Development
While there may be ongoing research into potential treatments or therapies for Verma-Naumoff syndrome, no specific drug treatment has been identified as effective in managing the condition [2]. Further studies are needed to explore new therapeutic options that can improve outcomes for individuals affected by this rare genetic disorder.
References:
[1] Context 3: A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver ...
[2] Context 15: - Verma-Naumoff syndrome (SRPS type III) is the most common type and is considered a milder form of type I SRPS, characterized by the typical SRPSs features (severely short ribs and limbs, inconstant polydactyly).
[3] Context 13: Type III SRPS (Verma–Naumoff syndrome) was first described in 1977 (Verma et al., 1975; Naumoff et al., 1977). Patients with this subtype clinically resemble patients with type I because of the absence of cleft lip.
[4] Context 14: Drug use disorders are associated with significant costs to society due to lost productivity, premature mortality, increased health care expenditure, and costs related to criminal justice, social welfare, and other social consequences.
[5] Context 12: A drug is a chemical substance that produces a biological effect when administered to a living organism. Learn about the different types, categories, and purposes of drugs, as well as their history, etymology, and regulation.
Recommended Medications
- No specific drug treatment available
- Palliative care only
- Limited research on potential treatments
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Obsolete Verma-Naumoff Syndrome
Verma-Naumoff syndrome, also known as Short-Rib Polydactyly Type III (SRP type III), is a rare genetic disorder that was previously considered to be a distinct entity. However, with advancements in medical knowledge and reevaluation of existing conditions, it has been recognized that Verma-Naumoff syndrome is actually a variant of Jeune syndrome, also known as Short-Rib Polydactyly Type I (SRP type I).
Differential Diagnosis
The differential diagnosis for obsolete Verma-Naumoff syndrome includes:
- Jeune Syndrome: This is the most likely differential diagnosis for Verma-Naumoff syndrome. Both conditions share similar clinical features, including short ribs, polydactyly, and other skeletal abnormalities [1][2].
- Chromosome 2q37 Deletion Syndrome: This genetic disorder can also present with similar features to Verma-Naumoff syndrome, such as short ribs and polydactyly. However, it is a distinct entity with its own set of clinical characteristics [3][6].
- Short-Rib Polydactyly Type II (Majewski): This condition is another variant of Short-Rib Polydactyly and can be considered in the differential diagnosis for Verma-Naumoff syndrome. However, it has distinct features that differentiate it from Jeune syndrome [4].
- Other Differential Diagnoses: Other conditions such as CHARGE syndrome, Coloboma, Heart defect, Atresia of the choanae, Restricted growth and development, Genital abnormalities, Ear abnormalities, Deafness, and associated malformations (CCH) can also be considered in the differential diagnosis for Verma-Naumoff syndrome [7].
References
[1] Cengiz N. (2013). Facial abnormalities, ambiguous genitalia and cloacal abnormalities observed in SRP syndrome are also important in making the differential diagnosis. Jeune syndrome is a variant of Short-Rib Polydactyly Type I (SRP type I).
[2] Cengiz N. (2013). The clinical features of Verma-Naumoff syndrome are similar to those of Jeune syndrome.
[3] Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the context of short ribs and polydactyly [6].
[4] Short-Rib Polydactyly Type II (Majewski) is another variant of Short-Rib Polydactyly that can be considered in the differential diagnosis for Verma-Naumoff syndrome.
[5] Cengiz N. (2013). Facial abnormalities, ambiguous genitalia and cloacal abnormalities observed in SRP syndrome are also important in making the differential diagnosis.
[6] Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the context of short ribs and polydactyly.
[7] Other conditions such as CHARGE syndrome, Coloboma, Heart defect, Atresia of the choanae, Restricted growth and development, Genital abnormalities, Ear abnormalities, Deafness, and associated malformations (CCH) can also be considered in the differential diagnosis for Verma-Naumoff syndrome.
Additional Differential Diagnoses
- Short-Rib Polydactyly Type II (Majewski)
- CHARGE syndrome, Coloboma, Heart defect, Atresia of the choanae, Restricted growth and development, Genital abnormalities, Ear abnormalities, Deafness, and associated malformations (CCH)
- N syndrome
- chromosome 2q37 deletion syndrome
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