Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2) Overview

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Learn About Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)

View Main Condition: Short Stature (Growth Disorders)

What is the definition of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)?
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by genetic changes in the PCNT gene and is inherited in an autosomal recessive manner.
What are the alternative names for Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)?
  • Microcephalic osteodysplastic primordial dwarfism type 2
  • MOPD 2
  • MOPD II
  • Majewski osteodysplastic primordial dwarfism type II
  • Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
  • Osteodysplastic primordial dwarfism type 2
Who are the top Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2) Local Doctors?
Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Dr. Michael B. Bober
Medical Genetics | Pediatrics
Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Dr. Michael B. Bober
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
302-651-4000
Languages Spoken:
English
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Accepting New Patients

Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober and is rated as an Elite provider by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2). His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Short Stature (Growth Disorders), Osteotomy, and Myringotomy. Dr. Bober is currently accepting new patients.

Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Patrick Edery
Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Patrick Edery
Service De Génétique Et Centre De Référence Maladies Rares Des Anomalies Du Développement CLAD Sud Est, 
Lyon, FR 

Patrick Edery practices in Lyon, France. Edery and is rated as an Elite expert by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2). His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephaly, and Achalasia Microcephaly Syndrome.

 
 
 
 
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Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Severine Drunat
Elite in Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)
Severine Drunat
Paris, FR 

Severine Drunat practices in Paris, France. Drunat and is rated as an Elite expert by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2). Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Cortical Dysplasia, and Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2).

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What are the latest Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2) Clinical Trials?
Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome
Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome
Enrollment Status: Recruiting
Publish Date: October 09, 2024
Intervention Type: Other
Study Phase: Not Applicable

Summary: In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns. The minor spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders a...

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Primordial Registry at Nemours/A. I. duPont Hospital for Children
Primordial Registry at Nemours/A. I. duPont Hospital for Children
Enrollment Status: Recruiting
Publish Date: October 01, 2024

Summary: The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

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Who are the sources who wrote this article ?

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