Rare Endocrinology News

Disease Profile

Microcephalic osteodysplastic primordial dwarfism type 1

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

MOPD 1; Microcephalic osteodysplastic primordial dwarfism types 1 and 3; Osteodysplastic primordial dwarfism type I;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

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.[1] It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner.[2] Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life.[1] MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.[1]

Symptoms

Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia).[3][1] In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures.[3] Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability.[1] Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum).[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal calcium-phosphate regulating hormone level
0100530
Abnormal form of the vertebral bodies
0003312
Abnormality of the intervertebral disk
0005108
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormality of the pubic bone
Abnormality of the pubic bones
Abnormality of the pubis

[ more ]

0003172
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Alopecia
Hair loss
0001596
Aplasia/hypoplasia of the femur
Absent/small thighbone
Absent/underdeveloped thighbone

[ more ]

0005613
Aplastic clavicle
Absent collarbone
0006660
Bifid femur
Notched thighbone
Split thighbone

[ more ]

0010443
Bilateral single transverse palmar creases
0007598
Brachydactyly
Short fingers or toes
0001156
Broad distal phalanx of finger
Broad outermost finger bone
0009836
Bulbous nose
0000414
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dyspnea
Trouble breathing
0002094
Epileptic spasm
0011097
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Glaucoma
0000501
Global developmental delay
0001263
Hydronephrosis
0000126
Hydroureter
0000072
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Large hands
large hand
0001176
Large iliac wings
0008818
Long nose
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation

[ more ]

0003189
Loss of eyelashes
Eyelashes fell out
Missing eyelashes

[ more ]

0011457
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micromelia
Smaller or shorter than typical limbs
0002983
Muscle stiffness
0003552
Osteomalacia
Softening of the bones
0002749
Osteopenia
0000938
Osteoporosis
0000939
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Respiratory failure
0002878
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Rickets
Weak and soft bones
0002748
Rigidity
Muscle rigidity
0002063
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short neck
Decreased length of neck
0000470
Short palm
0004279
Sparse hair
0008070
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Specific learning disability
0001328
Status epilepticus
Repeated seizures without recovery between them
0002133
Thin eyebrow
Thin eyebrows
0045074
30%-79% of people have these symptoms
Abnormality of the tragus
0009912
Bifid uvula

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Microcephalic osteodysplastic primordial dwarfism type 1. Click on the link to view a sample search on this topic.

    References

    1. Microcephalic osteodysplastic primordial dwarfism types 1 and 3. Orphanet. November 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636. Accessed 11/11/2011.
    2. Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. April 22, 2011; https://omim.org/entry/210710. Accessed 11/11/2011.
    3. Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An atlas of genetic disorders of the skeletal development. 2nd ed. Oxford, NY: Oxford University Press; 2002;

    Rare Endocrinology News