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schneckenbecken dysplasia
ICD-10 Codes
Related ICD-10:
Description
Schneckenbecken dysplasia, also known as chondrodysplasia with snail-like pelvis, is a rare and severe skeletal dysplasia that leads to perinatal death [7][9]. The characteristic feature of this disorder is the snail-like configuration of the pelvis [7].
The clinical features of schneckenbecken dysplasia include:
- Cleft palate
- Midface retrusion
- Short neck
- Short nose
- Advanced ossification of carpal bones
- Bilateral talipes equinovarus (clubfoot)
- Brachydactyly (short fingers) [3]
Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones [4]. This condition is inherited in an autosomal recessive mode, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [6].
It's worth noting that schneckenbecken dysplasia is a prenatally lethal spondylodysplastic dysplasia, which means that it is fatal before birth [1][2][5].
Additional Characteristics
- Midface retrusion
- Thoracic hypoplasia
- Cleft palate
- Brachydactyly (short fingers)
- Short neck
- Short nose
- Advanced ossification of carpal bones
- Bilateral talipes equinovarus (clubfoot)
- Severe flattening of the vertebral bodies
- Short, thick long bones
Signs and Symptoms
Signs and Symptoms of Schneckenbecken Dysplasia
Schneckenbecken dysplasia, a rare genetic disorder, is characterized by several distinct signs and symptoms. These include:
- Disproportionate short-limb short stature: Individuals with schneckenbecken dysplasia often have short limbs in proportion to their body size [7].
- Fibular hypoplasia: The fibula, a long bone in the lower leg, is underdeveloped or absent [7].
- Hypoplastic ilia: The ilium, a large bone in the pelvis, is underdeveloped or deformed [4], [5].
- Hypoplastic vertebral bodies: The vertebrae, which make up the spine, are abnormally shaped and underdeveloped [3], [5].
- Thoracic hypoplasia: The thorax, or chest cavity, is underdeveloped or deformed [2], [5].
- Cleft palate: A cleft in the roof of the mouth can occur [2].
- Short neck: Individuals with schneckenbecken dysplasia often have a short neck [2].
These signs and symptoms are typically present at birth and can be used to diagnose the condition. However, it's worth noting that schneckenbecken dysplasia is a prenatally fatal condition, meaning that affected individuals do not survive beyond birth.
References:
[1] Not applicable (context provided)
[2] Context result 1: Schneckenbecken dysplasia is a rare pre-natally fatal hereditary autosomal recessive condition which affects the bones and pre-natal growth. [3] Context result 3: Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., ... [4] Context result 4: ORPHA:3144 Schneckenbecken dysplasia · Abnormal form of the vertebral bodies HP:0003312 · Abnormal metaphysis morphology HP:0000944 · Disproportionate short-limb ... [5] Context results 3, 5: Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., ... [7] Context result 7: What are the Signs and Symptoms of Schneckenbecken Dysplasia? · Disproportionate short-limb short stature · Fibular hypoplasia · Hypoplastic ilia · Hypoplastic ...
Additional Symptoms
- Thoracic hypoplasia
- Cleft palate
- Fibular hypoplasia
- Short neck
- Hypoplastic ilia
- Hypoplastic vertebral bodies
- short stature
Diagnostic Tests
Diagnostic Tests for Schneckenbeck Dysplasia
Schneckenbeck dysplasia, also known as chondrodysplasia with snail-like pelvis, is a rare genetic disorder. Diagnostic testing plays a crucial role in identifying this condition.
- Genetic Analysis: Genetic analysis of
Additional Diagnostic Tests
- Genetic Analysis
- Genetic analysis of
Treatment
Unfortunately, there is no specific treatment available for Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis), a prenatally lethal spondylodysplastic dysplasia. However, based on the search results, here are some general insights:
- According to search result [4], it is recommended to consult with a healthcare professional for medical advice and treatment.
- Search result [7] mentions that there are currently very few specific therapeutic interventions to prevent, halt or modify skeletal disease progression, which suggests that there may be limited options available for treating Schneckenbecken dysplasia.
- However, search result [8] from Orphanet mentions that they have a summary about this condition, which may include information on diagnosis, care, and treatment. Some of the resources listed in this summary might provide more information on potential treatments or management strategies.
It's essential to note that Schneckenbecken dysplasia is a rare and prenatally lethal condition, which means it is not compatible with life after birth. Therefore, any treatment or management strategy would likely focus on providing comfort and support during the prenatal period.
In summary, while there may be some general information available on diagnosis, care, and treatment of Schneckenbecken dysplasia, specific treatment options are limited due to the rarity and severity of this condition.
References:
[4] - Disease Overview. Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis)
Recommended Medications
- Consult a healthcare professional for medical advice
- Limited therapeutic interventions available
- Prenatal comfort and support
💊 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
Based on the provided context, here are some differential diagnoses for Schneckenbecken dysplasia:
- Achondrogenesis, type 1A (ACG1A; MIM 200600) [14]
- Metatropic dysplasia (MIM 156530) [14]
- Thanatophoric dysplasia, type I [14]
Additionally, the following conditions are also mentioned as differential diagnoses:
- Morquio syndrome [12]
- Kniest syndrome [12]
- Dyggve-Melchior-Clausen disease [12]
- Metatrophic dysplasia [12]
- SED (Short-limbed dwarfism) [12]
It's worth noting that Schneckenbecken dysplasia is a perinatally lethal skeletal dysplasia, and its diagnosis can be challenging. A comprehensive evaluation of the patient's clinical presentation, radiographic findings, and genetic testing may be necessary to establish an accurate diagnosis.
References:
- Achondrogenesis, type 1A (ACG1A; MIM 200600) [14]
- Metatropic dysplasia (MIM 156530) [14]
- Thanatophoric dysplasia, type I [14]
- Morquio syndrome [12]
- Kniest syndrome [12]
- Dyggve-Melchior-Clausen disease [12]
- Metatrophic dysplasia [12]
- SED (Short-limbed dwarfism) [12]
Additional Differential Diagnoses
- Metatrophic dysplasia
- SED (Short-limbed dwarfism)
- N syndrome
- Dyggve-Melchior-Clausen disease
- metatropic dysplasia
- thanatophoric dysplasia
- Achondrogenesis, type 1A
- Kniest syndrome
Additional Information
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- An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
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