Metaphyseal Chondrodysplasia Schmid Type
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Metaphyseal Chondrodysplasia Schmid Type Overview

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What is the definition of Metaphyseal Chondrodysplasia Schmid Type?
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.
What are the alternative names for Metaphyseal Chondrodysplasia Schmid Type?
  • Metaphyseal chondrodysplasia Schmid type
  • MCDS
Who are the top Metaphyseal Chondrodysplasia Schmid Type Local Doctors?
Experienced in Metaphyseal Chondrodysplasia Schmid Type
Experienced in Metaphyseal Chondrodysplasia Schmid Type
Referral may be required

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5234
Languages Spoken:
English

Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.

Experienced in Metaphyseal Chondrodysplasia Schmid Type
Experienced in Metaphyseal Chondrodysplasia Schmid Type
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

 
 
 
 
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Referral may be required

Blue Ridge Radiology, P.C.

3053 W State St, 
Bristol, TN 
423-968-1144
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Jonathan Mai is a Radiologist practicing medicine in Bristol, Tennessee. Dr. Mai is rated as an Experienced provider by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. His clinical expertise encompasses Pleurisy, Pleural Effusion, Lung Nodules, ALK-Positive Non-Small Cell Lung Cancer, and Bone Marrow Aspiration. Dr. Mai is board certified in American Board Of Radiology.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center