Pacman dysplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Pacman dysplasia | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Pacman dysplasia is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Neonatal lethal micromelic dysplasia]] | |||
| field = [[Medical genetics]] | |||
| symptoms = Severe [[micromelia]], [[bowed long bones]], [[hypoplastic]] [[thorax]], [[facial dysmorphism]] | |||
| onset = [[Prenatal]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[GPC6]] gene | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[prenatal ultrasound]] | |||
| differential = [[Thanatophoric dysplasia]], [[Achondrogenesis]], [[Osteogenesis imperfecta]] | |||
| treatment = [[Supportive care]] | |||
| prognosis = [[Lethal]] in the [[neonatal]] period | |||
| frequency = Extremely rare | |||
}} | |||
'''Other Names:''' Pacman syndrome; Epiphyseal stippling with osteoclastic hyperplasia | '''Other Names:''' Pacman syndrome; Epiphyseal stippling with osteoclastic hyperplasia | ||
A rare disorder characterized by [[epiphyseal]] [[stippling]] and [[osteoclastic]] overactivity. | A rare disorder characterized by [[epiphyseal]] [[stippling]] and [[osteoclastic]] overactivity. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
It has been described in less than 10 patients but may be underdiagnosed. | It has been described in less than 10 patients but may be underdiagnosed. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
The syndrome may be inherited as an [[autosomal recessive]] trait. | The syndrome may be inherited as an [[autosomal recessive]] trait. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal [[cloaking]]. Patients also have short [[metacarpal]]s. | It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal [[cloaking]]. Patients also have short [[metacarpal]]s. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
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* [[Patent ductus arteriosus]] | * [[Patent ductus arteriosus]] | ||
* Rough bone trabeculation | * Rough bone trabeculation | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by [[electron microscopy]], or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal [[ultrasonography]]. This skeletal dysplasia is [[lethal]]. | This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by [[electron microscopy]], or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal [[ultrasonography]]. This skeletal dysplasia is [[lethal]]. | ||
Revision as of 06:14, 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
| Pacman dysplasia | |
|---|---|
| |
| Synonyms | Neonatal lethal micromelic dysplasia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Severe micromelia, bowed long bones, hypoplastic thorax, facial dysmorphism |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the GPC6 gene |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, prenatal ultrasound |
| Differential diagnosis | Thanatophoric dysplasia, Achondrogenesis, Osteogenesis imperfecta |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Lethal in the neonatal period |
| Frequency | Extremely rare |
| Deaths | N/A |
Other Names: Pacman syndrome; Epiphyseal stippling with osteoclastic hyperplasia
A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity.
Epidemiology
It has been described in less than 10 patients but may be underdiagnosed.
Inheritance
The syndrome may be inherited as an autosomal recessive trait.
Signs and symptoms
It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of calvarial morphology(Abnormality of the shape of cranium)
- Coronal cleft vertebrae
- Epiphyseal stippling(Speckled calcifications in end part of bone)
- Genu varum(Outward bow-leggedness)
- Hypotelorism(Abnormally close eyes)
- Lethal skeletal dysplasia(Lethal dwarfism identifiable at birth)
- Patent ductus arteriosus
- Rough bone trabeculation
Diagnosis
This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
NIH genetic and rare disease info
Pacman dysplasia is a rare disease.
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Rare diseases - Pacman dysplasia
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