Is also known as Microcephalic Osteodysplastic Primordial Dwarfism Type I, along with Osteodysplastic Primordial Dwarfism Type I, Brachymelic Primordial Dwarfism, Taybi-Linder Syndrome, Cephaloskeletal Dysplasia, Low-birth-weight dwarfism with skeletal dysplasia.
How common is Majewski Osteodysplastic Primordial Dwarfism Type I?
MOPDI is very rare, records suggest that there have been less than 50 cases have been reported worlwide.
What causes Majewski Osteodysplastic Primordial Dwarfism Type I?
The exact cause is unknown due to the rarity of of the condition.
Is Majewski Osteodysplastic Primordial Dwarfism Type I inherited?
The precise gene and inheritance pattern of Majewski Osteodysplastic Primordial Dwarfism Type I is unknown, but most data, simliar to the other sub-types of Primordial Dwarfism suggest that it follows an autosomal recessive pattern.
What are the physical characteristics of Majewski Osteodysplastic Primordial Dwarfism Type I?
The findings include:
- severe restricted growth (IUGR/SGA) with microcephaly
- micrencephaly lissencephaly
- moderately short limbs
- beaked nose
- large eyes
- dysplastic ears
- dysgenesis of the corpus callosum
- focal renalmedullary dysplasia
- small iliac wings with flat acetabular angles
- coxa vara
- V-shaped distal femoral metaphyses
- triangular distal femoral epiphyses
- pseudoepiphyses of metacarpals
- short first metacarpals
- brachymesophalangy of the fifth digit
- failure to thrive
- sparse hair, including scalp hair, eyebrows and eyelashes
- recurrent apnea
- limited life expectancy due to underlying medical, sadly most children have died within the first year.
The following are case studies that can be referred to by medical professionals, to help establish a diagnosis:
Majewski F, Goecke TO Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet 1998 Oct 30;80(1):25-31
Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet 1998 Oct 30;80(1):16-24
al Gazali LI, Hamada M, Lytle W Microcephalic osteodysplastic primordial dwarfism type II. Clin Dysmorphol 1995 Jul;4(3):234-8
Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet 1989 Jun;33(2):224-7
Majewski F, Stoeckenius M, Kemperdick H Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. Am J Med Genet 1982 May;12(1):37-42
Majewski F, Ranke M, Schinzel A Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 1982 May;12(1):23-35
Kozlowski K, Donovan T, Masel J, Wright RG Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol 1993 Feb;37(1):111-4
Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weninger M Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet 1998 Jan;35(1):61-4
Spranger S, Tariverdian G, Albert FK, Sontheimer D, Zoller J, Weber M, Troger J Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. Eur J Pediatr 1996 Sep;155(9):796-9
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 our doctors on our medical review board.