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obsolete Majewski syndrome
ICD-10 Codes
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Description
Obsolete Majewski Syndrome Description
Majewski syndrome, also known as type II short rib-polydactyly syndrome, was a rare and lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax [13]. This condition was marked by significant skeletal involvement, including:
- Hypoplastic thorax with short ribs
- Protuberant abdomen
- Micromelia with particularly short tibiae having an ovoid configuration
- Pre- and postaxial polydactyly (extra fingers)
- Brachydactyly (short fingers)
- Hypoplasia or aplasia of nails
- Dysmorphic features
This syndrome was considered obsolete, meaning it is no longer used as a valid medical term [4]. The condition was previously known by other names, including Majewski's polydactyly syndrome and short rib-polydactyly syndrome type II.
Key Features
- Lethal form of neonatal dwarfism
- Significant skeletal abnormalities
- Narrow thorax with short ribs
- Extra fingers (polydactyly)
- Short fingers (brachydactyly)
- Hypoplastic or aplastic nails
References
[4] - Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and shorts rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax [13].
[13] - Majewski Syndrome · Saldino-Noonan Syndrome · preferredConcept (MeSH Concept) ... [OBSOLETE] Short Rib-Polydactyly Syndrome/radionuclide imaging · Short Rib ...
Additional Characteristics
- Hypoplastic thorax with short ribs
- Protuberant abdomen
- Micromelia with particularly short tibiae having an ovoid configuration
- Pre- and postaxial polydactyly (extra fingers)
- Brachydactyly (short fingers)
- Hypoplasia or aplasia of nails
- Dysmorphic features
Signs and Symptoms
Majewski Syndrome (Obsolete): Signs and Symptoms
Majewski syndrome, also known as Short rib-polydactyly syndrome, Majewski type, is a rare genetic disorder characterized by severe physical abnormalities. While the condition has been largely replaced by more specific diagnoses, such as Microcephalic Primordial Dwarfism Type II (SRPS type II), we can still look at the original signs and symptoms associated with Majewski syndrome.
Physical Characteristics:
- Short stature: Individuals with Majewski syndrome typically have short limbs and a small body size [1].
- Microcephaly: A smaller-than-average head size is often observed in people with this condition [2].
- Scalp deformity: The scalp may be deformed or abnormal, which can lead to various complications [3].
- Small head: In addition to microcephaly, the overall head shape and size may be affected [4].
Skeletal Abnormalities:
- Short ribs: One of the hallmark features of Majewski syndrome is a hypoplastic thorax with short ribs [5].
- Polydactyly: Extra fingers or toes can occur in individuals with this condition [6].
- Finger and toe deformities: Various abnormalities, such as syndactyly (webbed fingers or toes), may be present [7].
Other Signs and Symptoms:
- Dental anomalies: Teeth may be small or abnormal in shape and size [8].
- Scoliosis and kyphosis: Abnormal curvatures of the spine can occur, leading to posture problems [9].
- High-pitched voice: Individuals with Majewski syndrome may have a higher-than-average pitched voice due to laryngeal abnormalities [10].
Please note that these signs and symptoms are based on outdated information, as Majewski syndrome has been largely replaced by more specific diagnoses. However, this summary provides an overview of the original characteristics associated with this condition.
References:
[1] Context result 9 [2] Context result 6 [3] Context result 6 [4] Context result 6 [5] Context result 1 [6] Context result 9 [7] Context result 6 [8] Context result 8 [9] Context result 9 [10] Context result 8
Additional Symptoms
- Polydactyly
- Microcephaly
- Scalp deformity
- Small head
- Short ribs
- Finger and toe deformities
- Dental anomalies
- Scoliosis and kyphosis
- High-pitched voice
- short stature
Diagnostic Tests
Based on the provided context, it appears that Majewski syndrome is a rare genetic disorder. Here are some diagnostic tests mentioned in the search results:
- Molecular testing (DNA testing): This test can help diagnose Majewski syndrome by identifying any genetic mutations associated with the condition [3].
- X-ray: X-rays may be used to observe the clinical features of Majewski syndrome, such as a hypoplastic thorax with short ribs and protuberant abdomen [3].
- Fetoscopy: Fetoscopy was performed in three pregnancies at risk for Majewski syndrome to diagnose the condition in the fetus [6] and [9].
- 18 gene panel: An 18-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib polydactyly syndrome, which may include Majewski syndrome [8].
It's worth noting that these diagnostic tests are not specific to Majewski syndrome and may be used to diagnose other conditions as well. A comprehensive diagnosis would require a thorough evaluation of the patient's clinical features, medical history, and genetic testing.
References:
[3] - Clinical features of Majewski syndrome can be observed through X-ray. [6] - Fetoscopy was performed in three pregnancies at risk for Majewski syndrome. [8] - An 18-gene panel is ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib polydactyly syndrome, which may include Majewski syndrome. [9] - Fetoscopy was performed in three pregnancies at risk for Majewski syndrome.
Additional Diagnostic Tests
- X-ray
- Molecular testing (DNA testing)
- Fetoscopy
- 18 gene panel
Treatment
Current Treatment Options for Majewski Syndrome
Majewski syndrome, also known as Type II Short Rib-Polydactyly Syndrome (SRPS), is a rare genetic disorder characterized by short ribs, severe pulmonary hypoplasia, micromelia, and polydactyly. While there is no cure for the condition, various treatment options are available to manage its symptoms and improve quality of life.
- Palliative care: The primary focus of treatment is on providing supportive care to alleviate symptoms and prevent complications. This includes managing respiratory problems, monitoring for signs of infection, and ensuring proper nutrition and hydration.
- Surgical interventions: In some cases, surgical procedures may be necessary to correct physical deformities or address related health issues. However, these interventions are typically reserved for specific situations and should be carefully considered on an individual basis.
Current Research and Emerging Therapies
While there is no specific drug treatment available for Majewski syndrome, researchers continue to explore potential therapeutic options. Some emerging areas of investigation include:
- Gene therapy: Scientists are exploring the possibility of using gene therapy to correct the genetic mutations responsible for the condition.
- Stem cell therapy: Researchers are investigating the use of stem cells to promote tissue regeneration and repair in individuals with Majewski syndrome.
Challenges and Future Directions
Despite ongoing research, significant challenges remain in developing effective treatments for Majewski syndrome. These include:
- Limited understanding of the underlying genetics: Further research is needed to fully understand the genetic mechanisms driving the condition.
- Lack of targeted therapies: Currently, there are no specific drugs or interventions tailored to address the unique needs of individuals with Majewski syndrome.
References
- [15] Type II SRPS (Majewski syndrome) was first described in 1971 (Majewski et
Recommended Medications
- No specific drug treatment is available for Majewski syndrome
- Gene therapy
- Stem cell therapy
💊 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 Diagnoses of Obsolete Majewski Syndrome
Majewski syndrome, also known as Type II SRPS (Short Rib Polydactyly Syndrome), is a rare genetic disorder characterized by short ribs, micromelia, and polydactyly. However, it has been largely obsolete since the 1970s due to advances in medical knowledge.
Differential Diagnosis
When considering differential diagnoses
Additional Differential Diagnoses
- Meier-Gorlin syndrome 2
- Short Rib Polydactyly Syndrome (SRPS)
- Other genetic disorders causing short ribs and micromelia
Additional Information
- relatedICD
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- oboInOwl#hasOBONamespace
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- DOID:0050550
- oboInOwl#hasExactSynonym
- type II short rib-polydactyly syndrome
- owl#deprecated
- true
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050550
- rdf-schema#label
- obsolete Majewski syndrome
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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