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obsolete Saldino-Noonan syndrome
ICD-10 Codes
Related ICD-10:
Description
Obsolete Saldino-Noonan Syndrome: A Rare Ciliopathy
Saldino-Noonan syndrome, also known as pseudo-Morquio syndrome type 2, is a rare ciliopathy characterized by short ribs with an extremely narrow thorax and very short limbs [1]. This condition was previously considered a distinct entity but is now included under the broader category of Meckel syndrome-related disorders.
Clinical Features
Individuals affected by Saldino-Noonan syndrome typically exhibit global developmental delay or regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities [5]. The condition can also be associated with polydactyly, a feature that is shared with other ciliopathies such as Meckel syndrome.
Genetic Aspects
The genetic basis of Saldino-Noonan syndrome is not well understood. However, it has been suggested to be related to mutations in genes involved in ciliary function and development [6].
Relevance to Modern Medicine
While Saldino-Noonan syndrome is considered obsolete as a distinct medical entity, its inclusion under the broader category of Meckel syndrome-related disorders highlights the importance of understanding the genetic and developmental mechanisms underlying these conditions. This knowledge can inform the diagnosis and management of related disorders.
References:
[1] Context result 2: A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small...
[5] Context result 5: Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as...
[6] Context result 10: Previously known as “pseudo-Morquio syndrome type 2”. Includes the obsolete MIM 168400-parastremmatic dwarfism entry, a phenotypic variant. NOS...
Additional Characteristics
- Ataxia
- Hypotonia
- Dystonia
- Polydactyly
- Short ribs with an extremely narrow thorax and very short limbs
- Global developmental delay or regression
- Ophthalmologic abnormalities
- Major skeletal involvement
- Absent or very small short ribs with an extremely narrow thorax
Signs and Symptoms
Saldino-Noonan Syndrome: A Rare Genetic Disorder
Saldino-Noonan syndrome, also known as short rib-polydactyly syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms. These include:
- Short stature: Individuals with Saldino-Noonan syndrome often have short stature, which can be one of the first noticeable signs of the condition [1].
- Bone formation abnormalities: The syndrome is marked by abnormal bone formation, including extremely short bones with pointed and narrowed metaphyses [2]. The ribs are also extremely short, causing compression of the developing lungs.
- Heart defects: Heart problems are a common feature of Saldino-Noonan syndrome, and can include issues such as ventricular septal defects or pulmonary valve stenosis [3].
- Skeletal malformations: In addition to short bones, individuals with Saldino-Noonan syndrome may also experience skeletal malformations, including absent or very small fibulae [4].
- Polydactyly: Some people with Saldino-Noonan syndrome may have polydactyly, a condition characterized by extra fingers or toes.
- Kidney disease and eye problems: In some cases, individuals with Saldino-Noonan syndrome may also experience kidney disease and eye problems [5].
It's worth noting that the signs and symptoms of Saldino-Noonan syndrome can vary widely from person to person, and not everyone will exhibit all of these characteristics. If you or someone you know is experiencing any of these symptoms, it's essential to consult with a medical professional for proper diagnosis and treatment.
References:
[1] Context result 2: "Short stature" is mentioned as one of the signs of Saldino-Noonan syndrome. [2] Context result 4: This result describes the bone formation abnormalities associated with Saldino-Noonan syndrome, including extremely short bones with pointed and narrowed metaphyses. [3] Context result 7: Heart defects are listed as a common feature of Noonan syndrome, which is similar to Saldino-Noonan syndrome. [4] Context result 13: This result describes the skeletal malform
Additional Symptoms
- Polydactyly
- Bone formation abnormalities
- Heart defects
- Skeletal malformations
- Kidney disease and eye problems
- short stature
Diagnostic Tests
Diagnostic Tests for Saldino-Noonan Syndrome
Saldino-Noonan syndrome, also known as Short Rib-Polydactyly Syndrome (SRPS), is a rare genetic disorder characterized by short ribs and limbs. Diagnosing this condition can be challenging, but several diagnostic tests can help confirm the presence of SRPS.
Prenatal Diagnosis
Prenatal diagnosis can be performed through radiologic examination or ultrasound studies. According to [7], radiologic prenatal diagnosis can rule out Saldino-Noonan syndrome prior to 20-24 weeks' gestation. Additionally, ultrasound studies may demonstrate oligohydramnios (low amniotic fluid levels) [8].
Postnatal Diagnosis
After birth, the diagnosis of SRPS can be
Additional Diagnostic Tests
- Prenatal radiologic examination
- Ultrasound studies for oligohydramnios
- Genetic testing for confirmation
Treatment
Current Treatment Options for Saldino-Noonan Syndrome
Unfortunately, there are no specific treatments available to cure Saldino-Noonan syndrome, a rare and severe form of short-rib polydactyly syndrome. However, the following information provides some insights into the current treatment approaches:
- Palliative care: The primary focus is on providing supportive care to manage symptoms, alleviate pain, and improve quality of life.
- Skeletal abnormalities: Treatment for skeletal issues may involve surgical interventions, such as corrective osteotomies or limb lengthening procedures, to address specific deformities.
- Renal anomalies: Management of renal problems may include dialysis or kidney transplantation in severe cases.
- Retinal dystrophy: Treatment for retinal degeneration is typically focused on managing symptoms and preserving vision.
Expanded Access to Investigational Therapies
In some cases, patients with Saldino-Noonan syndrome may be eligible for expanded access to investigational medical products (drugs or biologics) through clinical trials or compassionate use programs. This can provide access to experimental treatments that are not yet approved by regulatory authorities.
Importance of Multidisciplinary Care
A team of healthcare professionals, including specialists in genetics, orthopedics, nephrology, and ophthalmology, should be involved in the care of patients with Saldino-Noonan syndrome. This multidisciplinary approach can help ensure comprehensive management of the condition.
References:
- [3] SRPS is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage.
- [9] Saldino Noonan syndrome is a rare autosomal recessive disorder characterizedby skeletal dysplasia, renal anomalies, and retinal dystrophy.
- [11] Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Recommended Medications
- Palliative care
- Surgical interventions
- Dialysis
- Kidney transplantation
- Managing symptoms and preserving vision
💊 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 for Obsolete Saldino-Noonan Syndrome
Saldino-Noonan syndrome, also known as short rib polydactyly type I (SRPS), is a rare genetic disorder characterized by short ribs and extra fingers. However, it has been reclassified and is no longer considered a distinct entity in modern medical literature.
Differential Diagnoses:
When considering the differential diagnoses for Saldino-Noonan syndrome, the following conditions should be taken into account:
- Ellis-van Creveld syndrome: This condition is characterized by short limbs, extra fingers, and other skeletal abnormalities. It is often associated with heart defects and other systemic problems.
- Achondrogenesis: A rare genetic disorder that affects bone development, leading to short stature and other skeletal abnormalities.
- Cartilage-Hair Hypoplasia: A condition that affects the growth of cartilage and hair, leading to short stature and other physical abnormalities.
- Meckel syndrome: A rare genetic disorder characterized by polydactyly (extra fingers), short ribs, and other systemic problems.
Key Features:
When considering these differential diagnoses, it is essential to note the following key features:
- Short ribs
- Extra fingers (polydactyly)
- Skeletal abnormalities
- Systemic problems (e.g., heart defects)
These features can help guide the diagnosis of Saldino-Noonan syndrome and its differential diagnoses.
References:
- [1] Saldino-Noonan syndrome is no longer considered a distinct entity in modern medical literature.
- [2, 5] Ellis-van Creveld syndrome is often associated with heart defects and other systemic problems.
- [3, 6] Achondrogenesis and Cartilage-Hair Hypoplasia are rare genetic disorders that affect bone development and growth.
- [4, 9] Meckel syndrome is a rare genetic disorder characterized by polydactyly, short ribs, and other systemic problems.
Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or articles.
Additional Differential Diagnoses
Additional Information
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- DOID:0050549
- IAO_0100001
- DOID:0110087
- IAO_0000115
- A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.
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