Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: Difference between revisions
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* Loose but elastic skin | * Loose but elastic skin | ||
* Scanty scalp hair | * Scanty scalp hair | ||
====Head==== | ====Head==== | ||
* Defective deciduous teeth | * Defective deciduous teeth | ||
* Wrinkled facies | * Wrinkled facies | ||
====Neurologic==== | ====Neurologic==== | ||
* Delayed mental development / [[mental retardation]] | * Delayed mental development / [[mental retardation]] | ||
====Extremities==== | ====Extremities==== | ||
* Hypermobile joints | * Hypermobile joints | ||
* Hypotonic muscles | * Hypotonic muscles | ||
===X-ray=== | ===X-ray=== | ||
* [[Osteopenia]] of all bones | * [[Osteopenia]] of all bones | ||
Revision as of 14:55, 27 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Ehler's Danlos syndrome - progeroid form
Overview
Xylosylprotein 4-beta-galactosyltransferase deficiency is a variant of Ehlers-Danlos syndrome
Pathophysiology
This disease is caused by mutation in the gene encoding xylosylprotein 4-beta-galactosyltransferase, which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain, leading to defective synthesis of proteodermatan sulfate (PDS) .
Diagnosis
Symptoms
- Wrinkling of the skin over the face
- Delayed wound healing
Physical examination
Appearance of the patient
Patients with this disease are short statured with an aged appearance.
Skin
- Loose but elastic skin
- Scanty scalp hair
Head
- Defective deciduous teeth
- Wrinkled facies
Neurologic
- Delayed mental development / mental retardation
Extremities
- Hypermobile joints
- Hypotonic muscles
X-ray
- Osteopenia of all bones