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.
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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
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What are the latest Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2) Clinical Trials?
Metabolic Study of Cockayne Syndrome

Summary: Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair. It is an autosomal recessive multisystemic disorder characterized by mental retardation, microcephaly, severe growth failure with lipoatrophia, sensorial impairment, cutaneous photosensitivity, dental decay, enophtalmios. The disease is progressive causing severe ...

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Primordial Registry at Nemours/Alfred I. duPont Hospital for Children

Summary: The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other 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.

Who are the sources who wrote this article ?

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

What are the Latest Advances for Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.