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Autosomal Recessive Amelia


Presentation

  • […] phocomelia and cranio-facial, heart, kidney and genital defects, the fact that new cases were few and far between left room for postulation as to whether it was Roberts syndrome, a new X-linked disorder or a different autosomal recessive genetic disorder presented[bartleby.com]
  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • Pathology by regions Limbs phocomelias Definition: In phocomelia, the hands are present but an intervening segment of the extremity is missing (arm and/or forearm). The hand is normal or not. One, two, three, or all limbs can be affected.[humpath.com]
  • Patients with unilateral Amelia present fewer technical difficulties but bring up several problems unique to unilateral upper Amelia.[annalsafrmed.org]
  • They both presented with normal body temperature, but also had evidence of recent bath with drops of water scattered all over their bodies.[njcponline.com]
Italian
  • Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Japanese Pronunciation Japanese Pronunciation Japanese Pronunciation Japanese Pronunciation Korean Pronunciation Korean Pronunciation Norwegian Pronunciation[pronouncekiwi.com]
  • Found on Amelia DOC area for red, rosé and white wines in the Italian region Umbria, In 2011, the wines of the former DOC area Colli Amerini were transferred.[encyclo.co.uk]
Turkish
  • Autosomal recessive and X-linked amelia has mostly occurred in Arabic and Turkish families. This suggests ethnic differences for an abnormal recessive gene but is based on less than 20 cases.[encyclopedia.com]
Physician
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • The test was ordered by the patient's physician, after the physician had explained the risks and benefits of testing to the patient and had obtained written informed consent.[doi.org]
Erythema
  • Pierre Robin sequence with pectus excavatum and rib and scapular anomalies Insulin-resistance type B Minicore myopathy with external ophthalmoplegia Beta ketothiolase deficiency Chromosome 17p duplication Mungan syndrome 3MC syndrome Keratolytic winter erythema[checkrare.com]
Dysplastic Ears
  • Keywords : Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-275[ajol.info]
  • Keywords : Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears[africanhealthsciences.org]
Suggestibility
  • Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations.[ncbi.nlm.nih.gov]
  • 's report had an affected mother, suggesting the x-linked variant of HED. [1] Also, there was no history suggestive of consanguinity from these reports. [1], [2] Reports of autosomal dominant traits have been made. [7] We, therefore, describe a set of[njcponline.com]
  • The Q83X mutation truncates WNT3 at its amino terminus, suggesting that loss of function is the most likely cause of the disorder. Our findings contrast with the observation of early lethality in mice homozygous for null alleles of Wnt3.[synapse.mskcc.org]
  • Several other pieces of evidence suggest that Adams-Oliver syndrome is not merely a syndrome, but a constellation of clinical findings resulting from an early embryonic vascular abnormality (Swartz et al. 1999).[rrnursingschool.biz]
Cryptorchidism
  • Autosomal Recessive: 60 33 (show all 14) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293 2 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347 3 cryptorchidism[malacards.org]
  • […] atresia Short neck Hypertelorism Sprengel anomaly Conductive hearing impairment Cleft upper lip Respiratory insufficiency Cervical C2/C3 vertebral fusion Growth delay Abnormal facial shape Pulmonary hypoplasia Patent ductus arteriosus Atrial septal defect Cryptorchidism[mendelian.co]
  • […] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism[checkrare.com]

Workup

  • The prior diagnostic workup of all 15 positive cases from local referrals is shown in Table S2 in the Supplementary Appendix .[doi.org]

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 - Tetra-amelia Syndrome Not supplied. Resources - Tetra-amelia Syndrome Not supplied.[checkorphan.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Currently, Jagger attends three-monthly visits to The Royal Children’s Hospital where he undergoes a full day of tests and treatments to keep his health on track.[peninsulahealth.org.au]
  • Treatment for those that survive depends upon the presence and severity of the associated symptoms and may require the coordinated efforts of a team of specialists.[malacards.org]

Prognosis

  • Prognosis - Tetra-amelia Syndrome Not supplied. Treatment - Tetra-amelia Syndrome Not supplied. Resources - Tetra-amelia Syndrome Not supplied.[checkorphan.org]
  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • Prognosis When amelia occurs as an isolated abnormality, prognosis is good. However, when amelia is combined with multiple other defects, the prognosis is grim.[encyclopedia.com]
  • Prognosis — probable outcome of the disease. Resources — bibliographies or contact information are provided for books, Web sites, national organizations and support groups. Symptoms — physical and mental signs of the disorder.[cengage.com]
  • […] diagnosis can have considerable adverse effects for patients and their families, including failure to identify potential treatments, failure to recognize the risk of recurrence in subsequent pregnancies, and failure to provide anticipatory guidance and prognosis[doi.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology isolated phocomelia spontaneous sporadic phocomelia fetal thalidomide exposition DK phocomelia syndrome (MIM.223340) SC phocomelia syndrome (MIM.269000) (E SCO2 mutations) X-linked tetra- amelia (MIM.301090) autosomal recessive tetra-amelia ([humpath.com]
  • Knowledge and cultural beliefs about the etiology and management of orofacial clefts In Nigeria's major ethnic groups. Cleft Palate Craniofacial J 2010;47:327-34. 9. Strauss RP.[annalsafrmed.org]
  • Although the etiology has been idiopathic in most cases, a traumatic event during early pregnancy has been identified on rare occasions.[rrnursingschool.biz]
  • The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation.[dysnet.org]

Epidemiology

  • Epidemiology [ edit ] Tetra-amelia syndrome has been reported in only a few families worldwide.[en.wikipedia.org]
  • The role of genetics in causing this condition is still undetermined but two large epidemiological studies estimate that nearly 20% of amelia cases are of genetic origin.[encyclopedia.com]
  • Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935–1980 . Am J Kidney Dis 1983 ; 2: 630 –9. 22. Gabow P, Johnson A, Jones R, Lezotte D, Kaehny W, Schrier RW. .[nejm.org]
  • Introduction Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40 to 82 per 1000 live births. 1 Epidemiologic studies show that if all congenital anomalies are considered as part of the genetic load[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance. The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.[enacademic.com]

Prevention

  • Prevention - Tetra-amelia Syndrome Not supplied. Diagnosis - Tetra-amelia Syndrome Not supplied. Prognosis - Tetra-amelia Syndrome Not supplied. Treatment - Tetra-amelia Syndrome Not supplied. Resources - Tetra-amelia Syndrome Not supplied.[checkorphan.org]
  • Tetra-amelia syndrome is an extremely rare genetic disorder that prevents growth of limbs. Yovana Yumbo Ruiz looks like one determined kid.[onlinefoktai.wordpress.com]
  • Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.[ashlandhumanbio.blogspot.com]
  • Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome .[ghr.nlm.nih.gov]

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