Symptoma

Microcephalic Osteodysplastic Primordial Dwarfism Type II

MOPD Type 2

The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center. [ncbi.nlm.nih.gov]

Marked hirsutism was present in male pattern of distribution. [journals.aace.com]

We present an infant with characteristic findings and discuss related conditions, especially the Seckel syndrome. [researchers.mq.edu.au]

  • Abnormal Teeth

    Abnormal teeth (microdontia) Figure 3. Upper limb deformity; Cubitus varus Figure 4. Severe lower limb deformity; Heel Valgus Figure 5. [oatext.com]

  • High Arched Palate

    The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures [ajol.info]

  • Eczema

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. [ncbi.nlm.nih.gov]

    Abstract To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. [zora.uzh.ch]

    Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany, Unlabelled : To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema [pubfacts.com]

  • Narrow Nose

    We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate [ncbi.nlm.nih.gov]

    Case presentation We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis [jmedicalcasereports.biomedcentral.com]

  • Papilledema

    Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. [ncbi.nlm.nih.gov]

  • Somnolence

    Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. [ncbi.nlm.nih.gov]

  • Dysphasia

    […] remain as to whether female sex has a protective effect or if instead male sex increases the risk of presenting these alterations. 5 Neurological impairment secondary to cerebrovascular alterations results in a wide range of sequelae, from residual dysphasia [elsevier.es]

treatment articles: Treatments for Microcephaly Causes See also causal information: Causes of Microcephaly Similar Topic Articles Microcephaly Names and Terminology Other Names for This Condition Majewski osteodysplastic primordial dwarfism type II MOPD2 [familydiagnosis.com]

Management and treatment Treatment issupportive only. Prognosis The prognosis is poor with most of the reported patients dying within the first year of life. The documents contained in this web site are presented for information purposes only. [orpha.net]

After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. MOPD type II may have a wider range of expression than previously delineated. [ncbi.nlm.nih.gov]

Prognosis The prognosis is poor with most of the reported patients dying within the first year of life. The documents contained in this web site are presented for information purposes only. [orpha.net]

4 patients with moyamoya disease were found to have cerebrovascular alterations at younger ages; patients with intracranial aneurysms in the posterior cerebral arteries, on the other hand, had a poorer prognosis due to severe chronic hypertension and [elsevier.es]

The prognosis is poor with most of the reported patients dying within the first year of life. [childnervoussystem.blogspot.com]

Prognosis - Microcephalic osteodysplastic primordial dwarfism- type 3 Not supplied. Treatment - Microcephalic osteodysplastic primordial dwarfism- type 3 Not supplied. [checkorphan.org]

Etiology Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). [orpha.net]

CM is a disorder of unknown etiology character-ized by a reticular violet-blue skin discoloration present sincebirth and is generally thought to be a mild condition. [docslide.com.br]

The etiology of hypertension is not well understood and may be due to renovascular causes or perhaps is centrally mediated [ 64 ]. [link.springer.com]

Both precocious puberty and polycystic ovary syndrome are characteristics of severe insulin resistance, although they also have other etiologies. [diabetes.diabetesjournals.org]

Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. [ncbi.nlm.nih.gov]

Multicentre study, aiming to determine morphological and epidemiological parameters and identify new symptoms in French patients with SCKL or MOPDII. [clinicaltrials.gov]

Summary Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far. [orpha.net]

The prevalence anddescriptive epidemiology of atopic dermatitis in Singaporeschool children. Br J Dermatol 2002;146:101106.5. Yura A, Shimizu T. [documents.tips]

This achievement was a turning point to understand the pathophysiological role of genes mapping on this chromosome, providing unprecedented opportunities to elucidate the molecular mechanisms of monogenic disorders and genetic conditions related to single [bioinfo.na.iac.cnr.it]

Presymptomatic detection and intervention could prevent the adverse consequences associated with this. [ncbi.nlm.nih.gov]

Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease. [inclinicaltrials.com]

Long term follow up studies support the effective-ness of the procedure in preventing recurrent ischemic attacksby promoting revascularization [Isono et al., 2002]. [docslide.com.br]

[…] vascular system and abnormally tortuous arteries. 6 Given the close relationship between MOPD type II and cerebrovascular alterations, our case underscores the importance of conducting MRI or angiography screening tests annually in these patients to prevent [elsevier.es]

Causes - Microcephalic osteodysplastic primordial dwarfism- type 3 Other Possible Causes of these Symptoms * Dwarfism * Large nose * Prominent nose * Receding chin * Receding forehead * Retarded fetal growth * Small head Prevention - Microcephalic osteodysplastic [checkorphan.org]