Kyphomelic Dysplasia
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Kyphomelic Dysplasia Overview

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Learn About Kyphomelic Dysplasia

What is the definition of Kyphomelic Dysplasia?
Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longer considered it's own entity and that individual cases should be further evaluated and re-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.
What are the alternative names for Kyphomelic Dysplasia?
  • Kyphomelic dysplasia
  • Bowing, congenital, with short bones
  • Congenital bowing with short bones
Who are the top Kyphomelic Dysplasia Local Doctors?
Sarah C. Contrucci
Experienced in Kyphomelic Dysplasia
Dr. Sarah C. Contrucci
Radiology
Experienced in Kyphomelic Dysplasia
Dr. Sarah C. Contrucci
Radiology

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

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

. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Kyphomelic Dysplasia. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Familial Short Stature (FSS).

Experienced in Kyphomelic Dysplasia
Dr. Alvaro H. Russi
Pediatrics
Experienced in Kyphomelic Dysplasia
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
See accepted insurances

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Kyphomelic Dysplasia. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

 
 
 
 
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Dr. Jonathan V. Mai
Radiology
Dr. Jonathan V. Mai
Radiology

Blue Ridge Radiology, P.C.

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

. Dr. Mai is rated as an Experienced provider by MediFind in the treatment of Kyphomelic Dysplasia. His top areas of expertise are Pleurisy, Pleural Effusion, Lung Nodules, ALK-Positive Non-Small Cell Lung Cancer, and Bone Marrow Aspiration.

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