Pacman dysplasia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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.

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NIH genetic and rare disease info

• NIH info on Pacman dysplasia

Pacman dysplasia is a rare disease.

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