Learn About Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)

View Main Condition: Short Stature (Growth Disorders)

What is the definition of Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)?
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by genetic changes in the RNU4ATAC gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)?
  • Microcephalic osteodysplastic primordial dwarfism type 1
  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • MOPD 1
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • Osteodysplastic primordial dwarfism type I
  • Primordial microcephalic dwarfism, Crachami type
  • Taybi-Linder syndrome
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What are the latest Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) 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.

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

What are the Latest Advances for Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)?

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.