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?
Experienced in Kyphomelic Dysplasia
Experienced in Kyphomelic Dysplasia
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 Kyphomelic Dysplasia. 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 Kyphomelic Dysplasia
Experienced in Kyphomelic Dysplasia
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 Kyphomelic Dysplasia. 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 Kyphomelic Dysplasia. 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