What does the name mean?
To clarify how the condition was named, we will breakdown the name of the condition into smaller components
The name of the doctor (Dr Frank Majewski) who first identified the condition while doing research on Seckel Syndrome.
Dr Majewski studied medicine in Saarbrücken, Freiburg, Vienna and Münster. He qualified in 1967 and then worked in the Institute of Human Genetics in Münster and specialised in paediatrics at the University of Tübingen Children's Hospital.
In 1978 he was appointed professor of human genetics and paediatrics at the Heinrich-Heine University of Düsseldorf, where he is presently (2001) professor at the Institut für Humangenetik und Anthropologie.
He defined Majewski Osteodysplastic Primordial Dwarfism type II (MOPD II) within a series of articles on Seckel syndrome and other specific syndromes of primordial dwarfism [Majewski and Goecke, 1982; Majewski et al., 1982a and 1982b].
They (Majewski and Goecke), characterized the condition as having severe IUGR with relatively proportionate head size at birth, but progression to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality.
The M in MOPD is also commonly known as Microcephalic which means small head (microcephaly).
Interesting fact, Dr Majewkis had another form of dwarfism named after him, this being "Majewski's syndrome" also known as: Majewski's polydactyly syndrome or Majewski's short rib-polydactyly syndrome
Osteo means bone and Dysplastic means relating to or evidencing Dysplasia, which is defined as; abnormal development or growth of tissues, organs, or cells.
Belonging to or characteristic of the earliest stage of development of an organism
A pathological condition of arrested growth having various causes.
How common is Majewski Osteodysplastic Primordial Dwarfism Type II?
Figures show that there are no more than 100 patients in the United States and Canada giving a rough estimate of 1 in 3 million. Here in the UK, there are an estimated 7 individuals diagnosed as having MOPDII, however the are numerous more who may have the condition but due to other characteristics and medical conditions they are assumed as having a form of MOPD.
There are also known cases of individuals affected with MOPDII in Ireland, Germany, Holland, Slovenia, Italy, Poland, Spain, Portugal, Turkey, Pakistan, India, Saudi Arabia, Iraq, Iran, Lebanon, Australia, New Zealand and South America.
The above equates to known recorded cases but there is a high possibility that there are more individuals affected by the condition that are not documented or even diagnosed.
Is MOPD Type II inherited?
The precise gene and inheritance pattern of MOPD Type II is unknown, but most data suggest that it follows an autosomal recessive pattern.
There are several sibling affected by MOPD II born to parents of average stature.
What causes MOPD Type II?
The direct cause is not exactly known, however over the last two years research teams here in the UK and America are working together to find the cause od MOPD II and other forms of Primordial Dwarfism. At the time of writing January 2011 it is envsage that these teams will publish a research paper on their findings within the next 6 12 months.
What are the physical characteristics of Primordial Dwarfism?
Probably the most consistent physical characteristic in these children is severe intrauterine growth retardation (IUGR). Recognition of the deficiency can occur as early as 13 weeks gestation and it becomes progressively more severe over the length of the pregnancy. In theory individuals individuals affected by MOPD II are classified by many as the smallest people in the world. Some individuals have not grown more than 19 inches.
Other characteristics are:
- Microcephaly. Head size is proportionate to body size at birth. However, as children grow and develop, the head grows slower than the body and becomes disproportionately small
- Premature closure of the soft spots (fontanelles) and craniosynostosis
- Prominent nose and eyes. The conspicuous nose may be obvious at birth or it may develop over the first year
- Small teeth with deficient enamel and increased spaces between them. Small roots in the secondary teeth. Secondary teeth can be missing or lost prematurely
- Proportionately small trunk, chest, and spine
- Scoliosis and thoracic kyphosis in later childhood
- Disproportionately short forearm in childhood, causing mesomelia
- Dislocated radial head with decreased range of motion at the elbows
- Dislocated hips and coxa vara at birth
- Lumbar lordosis, as a consequence of coxa vara
- Ligamentous laxity develops with age
- Fine and relatively sparse hair.
- Pigmentary dysplasia of the skin.
What are the x-ray characteristics?
In the newborn, the x-rays typically do not demonstrate major structural abnormalities, although the pelvis is narrow with small wings and flattened acetabular angles. The long bones may be overtubulated. Eleven rib pairs are sometimes seen, rather than twelve. As the children age, the bones appear thin and delicate with progressive metaphyseal widening at the ends of the long bones.
Bone age studies usually show decreased bone age; that is, the skeletal maturation process is slowed in these children and can be delayed 2 - 5 years behind the actual age.
How is the diagnosis made?
The differential diagnosis for MOPD II is complex and is done clinically based upon history, physical characteristics, radiographic review and the exclusion of any other physical findings or laboratory abnormalities.
What are the associated medical problems?
Nutrition - Most infants with primordial dwarfism have feeding problems. Small volumes and frequent feeding are typical. Sometimes naso-gastric feeding or g-tube feedings are needed.
Brain - About 25% of patients have structural or myelination abnormalities in the brain. Structural abnormalities have included: enlarged ventricles, abnormal gyral patterns and abnormal corpus callosum.
Development - Precocious puberty has been described in girls with breast development as early as 7 and menarche or the beginning of periods at 9 years. Boys do not seem to have precocious puberty.
What are things to watch out for?
Renal or kidney anomalies have been described and a renal ultrasound should be done as the diagnosis is being established.
Most of the patients develop farsightedness which requires glasses. Careful ophthalmologic evaluation is indicated at regular intervals.
Over 50% of individuals known to the WWGF have had abnormalities in the cerebral vascular system which can predispose to stroke. Children with MOPD II should have monitoring of their cerebral vascular systems by MRI / MRA.
There is no evidence of growth hormone deficiency nor is a response to treatment seen in MOPD II patients. However, in some cases an initial small spurt in growth can be seen, but does not appear to persist.
Most of the above can be examined more closely in the following document:
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Am J Med Genet A. 2004 Sep 15;130(1):55-72.
The majority of the above contents has been used with kind permission of:
Dr Michael Bober MD PhD
Co-Director - Skeletal Dysplasia Program
Alfred I. duPont Hospital for Children
1600 Rockland Road
P.O. Box 269
Wilmington, DE 19899
Please note the information on the individual pages within the About Primordial Dwarfism menu does not replace individual medical advice or provides a diagnosis. If any parent or guardian visiting this site thinks their child has a form of Primordial Dwarfism, they should consult a local Clinical Geneticist or ask their local pediatrician/doctor to make a referral to one of our doctors on our medical review board.