About MOPD I
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.
How common is MOPD I?
MOPD I is a ultra rare condition. There is no central database of known cases, however we can report that 14 cases have been reviewed or dianosed by the WWGF Medical Advisory board.
What causes MOPD I?
Information Being Reviewed and Updated
Is MOPD I inherited?
Information Being Reviewed and Updated
What gene is associated with MOPD I?
Information Being Reviewed and Updated
How is a diagnosis made?
Information Being Reviewed and Updated
What are the physical characteristics?
Information Being Reviewed and Updated
What are the associated medical problems?
Information Being Reviewed and Updated
What are things to watch out for?
Information Being Reviewed and Updated
What are the best care practices?
Information Being Reviewed and Updated
Persons perspective
Information Being Reviewed and Updated
Parents perspective
Information Being Reviewed and Updated
Research/Clinical papers available
Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., Amr, K. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet. 158A: 1455-1461, 2012. [PubMed: 22581640, related citations] [Full Text]
Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332: 240-243, 2011. [PubMed: 21474761, related citations] [Full Text]
Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am. J. Med. Genet. 33: 224-227, 1989. [PubMed: 2764032, related citations] [Full Text]
He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332: 238-240, 2011. [PubMed: 21474760, images, related citations] [Full Text]
Klinge, L., Schaper, J., Wieczorek, D., Voit, T. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. Neuropediatrics 33: 309-313, 2002. [PubMed: 12571786, related citations] [Full Text]
Lander, E. S., Botstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570, 1987. [PubMed: 2884728, related citations] [Full Text]
Lavollay, B., Faure, C., Filipe, G., Branca, G., Huet de Barochez, Y. Nanisme familial congenital avec dysplasie cephalo-squelettique (syndrome de Taybi-Linder). Arch. Franc. Pediat. 41: 57-60, 1984. [PubMed: 6721654, related citations]
Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P. Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am. J. Hum. Genet. 79: 62-66, 2006. [PubMed: 16773566, related citations] [Full Text]
Leutenegger, A.-L., Prum, B., Genin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F., Thompson, E. A. Estimation of the inbreeding coefficient through use of genomic data. Am. J. Hum. Genet. 73: 516-523, 2003. [PubMed: 12900793, images, related citations] [Full Text]
Majewski, F., Goecke, T. Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am. J. Med. Genet. 12: 7-21, 1982. [PubMed: 7046443, related citations] [Full Text]
Majewski, F., Ranke, M., Schinzel, A. Studies of osteodysplastic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism. Am. J. Med. Genet. 12: 23-35, 1982. [PubMed: 7201238, related citations] [Full Text]
Majewski, F., Spranger, J. Ueber einen neuen Typ des primordialen Minderwuchses: der brachymele primordiale Minderwuchs. Mschr. Kinderheilk. 124: 499-503, 1976. [PubMed: 934161, related citations]
Majewski, F., Stoeckenius, M., Kemperdick, H. Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles–osteodysplastic primordial dwarfism type III. Am. J. Med. Genet. 12: 37-42, 1982. [PubMed: 7201239, related citations] [Full Text]
Maroteaux, P., Badoual, J. La chondrodysplasie microcephalique subletale: syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III. Arch. Franc. Pediat. 47: 103-106, 1990. [PubMed: 2327863, related citations]
Meinecke, P., Passarge, E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J. Med. Genet. 28: 795-800, 1991. [PubMed: 1770539, related citations] [Full Text]
Meinecke, P., Schaefer, E., Wiedemann, H.-R. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. (Letter) Am. J. Med. Genet. 39: 232-236, 1991. [PubMed: 2063933, related citations] [Full Text]
Pierce, M. J., Morse, R. P. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. Am. J. Med. Genet. 158A: 606-610, 2012. [PubMed: 22302400, related citations] [Full Text]
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. 80: 16-24, 1998. [PubMed: 9800907, related citations] [Full Text]
Taybi, H., Linder, D. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89: 275-281, 1967.
Taybi, H. Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). (Letter) Am. J. Med. Genet. 43: 628 only, 1992. [PubMed: 1605263, related citations] [Full Text]
Thomas, P. S., Nevin, N. C. Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome). Ann. Radiol. 19: 187-192, 1976. [PubMed: 984702, related citations]
Van Maldergem, L., Gillerot, Y., Godhaird, M., Nemec, E., Koulischer, L. Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. Clin. Genet. 38: 359-361, 1990. [PubMed: 2282715, related citations] [Full Text]
Wiedemann, H. R., Grosse, F. R., Dibbern, H. An Atlas of Characteristic Syndromes: A Visual Aid to Diagnosis. Stuttgart: Wolfe Med. Publ. (pub.) 1982. P. 110.
Winter, R. M., Wigglesworth, J., Harding, B. N. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am. J. Med. Genet. 21: 569-574, 1985. [PubMed: 4025388, related citations] [Full Text]
Disclaimer
Please note the information on this page 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 Microcephalic Primordial Dwarfism, they should consult a local Clinical Geneticist or ask their local paediatrician/doctor to make a referral to one of our doctors on our Medical Advisory Board.
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Frequently Asked Questions:
I think our child has Microcephalic Primordial Dwarfism. Can you help us?
Yes we can! All you need to do is send an email to Sue Connerty at sue.connerty@walkingwithgiants.org and she will get back to you via email asking some information about your child. On receipt of your reply, she will the assess the information and consult with doctors on our Medical Advisory Board. If all information corresponds with the criteria needed for the WWGF to your child and your family, The WWGF will then send you some information how to regisiter for support and unite with other families affected by Microcephalic Primordial Dwarifism.
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