Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) Overview
Learn About Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)
View Main Condition: Short Stature (Growth Disorders)
- 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
Daniel Driscoll is a Medical Genetics provider in Gainesville, Florida. Dr. Driscoll and is rated as a Distinguished provider by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1). His top areas of expertise are Prader-Willi Syndrome, SHORT Syndrome, Aarskog Syndrome, and Camptodactyly Syndrome Guadalajara Type 2. Dr. Driscoll is currently accepting new patients.
Florida Clinical Practice Association Inc
Jennifer Miller is a Pediatric Endocrinologist and a Pediatrics provider in Gainesville, Florida. Dr. Miller and is rated as a Distinguished provider by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1). Her top areas of expertise are Prader-Willi Syndrome, Kenny-Caffey Syndrome Type 2, Craniofrontonasal Dysplasia, and Cockayne Syndrome. Dr. Miller is currently accepting new patients.
Miriam Cope is a Family Medicine provider in Gainesville, Florida. Dr. Cope and is rated as an Experienced provider by MediFind in the treatment of Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1). Her top areas of expertise are Campomelic Dysplasia, Mulibrey Nanism, Camptodactyly Syndrome Guadalajara Type 1, and Osteoglophonic Dysplasia.
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...
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.
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center