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Anauxetic Dysplasia

ANXD


Presentation

  • We herein report on a patient with anauxetic dysplasia, who presented with severe roto-scoliosis and skeletal findings requiring surgical intervention, and in whom a homozygous RMRP mutation was detected.[ncbi.nlm.nih.gov]
  • The goal of this book is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease.[books.google.com]
  • Acronym ANXD2 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • We discuss the past and present knowledge about the function of the RMRP complex in skeletal development.[eprints.whiterose.ac.uk]
Proportionate Short Stature
  • Proportionate short stature has been observed in some individuals [ van der Burgt et al 1991 , Mäkitie & Kaitila 1993 ]. Normal growth in childhood has also been reported [ Klemetti et al 2017 ].[ncbi.nlm.nih.gov]
Splenomegaly
  • Skin should be inspected for abnormal changes, lymph nodes for enlargement, and abdomen for hepatomegaly, splenomegaly, or other abnormalities.[ncbi.nlm.nih.gov]
Macroglossia
  • Typical facial features in anauxetic dysplasia include closely spaced eyes ( hypotelorism ), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin ( prognathism ).[elbiruniblogspotcom.blogspot.com]
  • Atlantoaxial instability, macroglossia, and aortic stenosis were described in two patients.[jmg.bmj.com]
  • Midfacial hypoplasia and macroglossia Dental abnormalities Mild intellectual disability Radiographic Findings by Phenotype Note: Radiographic findings tend to be highly variable.[ncbi.nlm.nih.gov]
Prognathism
  • Typical facial features in anauxetic dysplasia include closely spaced eyes ( hypotelorism ), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin ( prognathism ).[elbiruniblogspotcom.blogspot.com]
  • Additional findings included prognathism, small teeth, a large tongue, barrel chest, thoracic kyphosis, lumbar hyperlordosis, and limited extension of the elbows but marked laxity of the other joints.[jmg.bmj.com]
Hepatomegaly
  • Skin should be inspected for abnormal changes, lymph nodes for enlargement, and abdomen for hepatomegaly, splenomegaly, or other abnormalities.[ncbi.nlm.nih.gov]
Chest Deformity
  • Skeletal abnormalities may include incomplete extension at the elbows, chest deformities, lumbar lordosis, joint laxity, bowed legs, genu varum, and excessively long fibula distally relative to the tibia, in addition to dwarfism.[genedx.com]
  • […] stature (present in 100% of affected adults; prenatal onset in 76%-93%) Short fingers and toes Bowed femora and tibiae (present in 77%) Laxity of ligaments with hypermobility of joints (in 87%) Limited extension of the elbows (83%) Lumbar lordosis, chest[ncbi.nlm.nih.gov]
Hypoplasia of the Femoral Neck
  • (B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. The acetabular fossae are shallow and slanted with a wide iliac angle.[jmg.bmj.com]
Cervical Cord Compression
  • cord compression ; Cervical subluxation ; Delayed ossification of carpal bones ; Flared metaphysis ; Hypertelorism ; Hypodontia ; Hypoplastic ilia ; Intellectual disability ; J-shaped sella turcica ; Platyspondyly ; Rhizomelia ; Short finger ; Short[mousephenotype.org]
  • Showing of 17 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Brachydactyly Short fingers or toes 0001156 Cervical cord compression 0002341 Cervical subluxation 0003308 Delayed ossification[rarediseases.info.nih.gov]
  • At 4 years, respiratory insufficiency and quadriplegia spontaneously occurred, which was attributed to cervical cord compression. After 4 months of ventilation, the patient died of myocardial infarction.[jmg.bmj.com]
Tingling
  • As a result, affected individuals may experience neurological symptoms including pain, tingling, numbness, coordination problems, weakness, and paralysis.[elbiruniblogspotcom.blogspot.com]

Workup

  • First, in ourpatient these lesions were absent in the previous skeletal radio-graphic workup (2002) and only minor alterations were detectablein 2006 when symptoms firstly occurred.[dokumen.tips]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia[checkorphan.org]
  • Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.[ncbi.nlm.nih.gov]
  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Prognosis - Anauxetic dysplasia Not supplied. Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia[checkorphan.org]
  • Prognosis is dependent on the presence and severity of immunodeficiency. Management is focused on protecting affected individuals from infection by means of vaccinations and managing infections when they do occur.[nxgenmdx.com]
  • Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C (2008) Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children. J Pediatr Orthop 28(6):599–606 PubMed CrossRef Google Scholar 10.[link.springer.com]
  • , McKusick type Cartilage Hair Hypoplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis[lpamrs.memberclicks.net]
  • PMID 9584003 Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. Mäkitie O, Heikkinen M, Kaitila I, Rintala R Journal of pediatric surgery. 2002 ; 37 (11) : 1585-1588. PMID 12407544 DWARFISM IN THE AMISH. II.[atlasgeneticsoncology.org]

Etiology

  • CONCLUSION: The etiology of this finding remains unclear. Some causes of such deposits can be of a reversible nature, thus prompting early recognition although their consequences on clinical outcome remain mostly unknown.[ncbi.nlm.nih.gov]
  • Use of the eight-Plate for angular correction of knee deformities due to idiopathic and pathologic physis: initiating treatment according to etiology. J. Children's Orthopaedics. 2011;5(3):209-216. 6. Horn D., Rupprecht E., Kunze J., Spranger J.[cyberleninka.ru]

Epidemiology

  • Relevant External Links for POP1 Genetic Association Database (GAD) POP1 Human Genome Epidemiology (HuGE) Navigator POP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: POP1 No data available for Genatlas for POP1 Gene RNA-protein interactions[genecards.org]
  • Epidemiology Frequency United States Cartilage-hair hypoplasia is a rare defect. It has been described in both Amish and non-Amish populations.[emedicine.medscape.com]
  • Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992; 29 :652–5. [ PMC free article : PMC1016098 ] [ PubMed : 1404295 ] Mäkitie O, Kaitila I.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • Pathophysiology The genetic defect in cartilage-hair hypoplasia has been identified as a mutation in the gene for RNAase RMRP, mapped to 9p12. [3, 4, 5, 6, 7, 8, 9, 52, 56] RMRP is a ribonucleoprotein present in the nucleus and mitochondria.[emedicine.medscape.com]
  • In rare instances autoimmune complications and a form of severe allergic reaction have been observed in CHH; however, the pathophysiology is still unknown [ Bacchetta et al 2009 , Narra & Shearer 2009 ].[ncbi.nlm.nih.gov]
  • Dwarfs: pathophysiology and anesthetic implications. Anesthesiology. 1990;73:739-759. 4. Blount W.P., Clarke G.R. The classic. Control of bone growth by epiphyseal stapling. A preliminary report. J. Bone Joint Surg. 1949. Clin.[cyberleninka.ru]

Prevention

  • Prevention - Anauxetic dysplasia Not supplied. Diagnosis - Anauxetic dysplasia Not supplied. Prognosis - Anauxetic dysplasia Not supplied. Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia[checkorphan.org]
  • Immediate antiviral treatment with intravenous high-dose acyclovir must be considered at the first symptoms of varicella infection to prevent complications.[ncbi.nlm.nih.gov]
  • Why Laron dwarfs don’t get diabetes Published on: 26 February 2019 University of Queensland researchers have discovered a hidden metabolic advantage that prevents people with a specific type of dwarfism from developing type 2 diabetes or cancer.[di.uq.edu.au]
  • Varicella-zoster infection after allogeneic bone marrow transplantation: incidence, risk factors and prevention with low-dose aciclovir and ganciclovir. Bone Marrow Transplant. Mar 2000. 25(6):657-64. [Medline]. Thiel CT.[emedicine.medscape.com]
  • Suchfinding in fact, together with the already known decrease in bonemineral density, may warrant an early start of some bone metabolictherapy (such as anti-resorptive agents) in order to prevent or delayirreversible bone and joint deformities.REFERENCESAgarwal[dokumen.tips]

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