Delayed dentition, enamel dysplasia, and abnormal cusp morphology are often present. Cardiac septal defects may be seen. Genetics Homozygous mutations in LONF1 (19p13.3) segregate with the phenotype. [disorders.eyes.arizona.edu]

Presently, there is no cure for CODAS Syndrome. [dovemed.com]

Eye anomalies such as congenital cataracts (present in all patients), ptosis, and nystagmus and conductive and/or sensorineural hearing loss may be present. [accessanesthesiology.mhmedical.com]

Auricle malformation and delayed tooth eruption were not present. [nature.com]

Acronym CODASS Synonyms Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Short Stature

  These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts. [malacards.org]

  stature with marked epiphyseal dysplasia, and an unusual facial phenotype characterized mainly by ptosis, epicanthal folds and a grooved nose. [orpha.net]

• Malocclusion

  Cataracts Cleft palate Extra bones of wrist Malocclusion Microdontia and hypodontia Complete agenesis of anus Bifid uterus Bifid tongue [1] Causes [ edit ] Mutations in gene encoding filamin B [ edit ] Filamins are cytoplasmic proteins that regulate the [en.wikipedia.org]

• Alopecia

  […] bodies with coronal clefts, scoliosis, radiologic signs of spondyloepiphyseal dysplasia, generalized abnormalities of the ilium, joint dislocations, hypoplastic pectoral muscles, generalized hypotonia, restricted pronation and supination), and the skin (alopecia [accessanesthesiology.mhmedical.com]

• Keratosis

  […] cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis [en.wikipedia.org]

• Short Humerus

  humerus Short phalanx of finger Squared iliac bones Vocal cord paresis Very frequently present symptoms in 80-99% of the cases: Abnormality of dental enamel Abnormality of dental morphology Abnormality of epiphysis morphology Anteverted nares Brachydactyly [dovemed.com]

  Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [ncbi.nlm.nih.gov]

• Severe Short Stature

  When seen in the genetics clinic at age 5 years, her weight was 12,5 kg and she had severe short stature (markedly below the 3rd percentile for Chilean children) with a height of 80 cm; her head circumference 47,8 cm (below the 3rd percentile). [nature.com]

• Tremor

  Cerebellar examination demonstrated ataxia and bilateral coarse hand tremors. Lower cranial nerves and hearing were normal. Motor examination demonstrated generally reduced muscle bulk, paratonia, with grade 3–4-/5 muscle weakness. [frontiersin.org]

• Delayed Bone Age

  Diagnostic methods X-rays show delayed ossification, delayed bone age and spine and pelvic anomalies. [orpha.net]

  […] anomalies were quite similar, with delayed bone age, epiphyseal dysplasia, and vertebral clefts. [jmg.bmj.com]

  Generalized metaphyseal dysplasia and delayed bone age are usually present. The anus may be imperforate and a rectovaginal fistula and cryptorchidism have been reported. Long bones may be malformed as well and most patients are short in stature. [disorders.eyes.arizona.edu]

Treatment Treatment Options: There is no general treatment available and infants sometimes die from laryngeal obstruction in the first days of life. Individual anomalies may be surgically correctable in selected individuals. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Management and treatment Management requires a multidisciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics. Last updated: 11/1/2008 [rarediseases.info.nih.gov]

(Outcomes/Resolutions) The prognosis of CODAS Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Diagnosis and Prognosis: The diagnosis can be suspected at birth by a pediatrician or medical geneticist. However, genetic studies are important for the confirmation. [disorders.eyes.arizona.edu]

[ edit ] While Larsen syndrome can be lethal if untreated, the prognosis is relatively good if individuals are treated with orthopedic surgery, physical therapy, and other procedures used to treat the symptoms linked with Larsen syndrome. [7] See also [en.wikipedia.org]

PMID: 25808063 Prognosis Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosiński [ncbi.nlm.nih.gov]

Etiology Etiology remains unknown but some of the features suggest involvement of a collagen gene defect. Diagnostic methods X-rays show delayed ossification, delayed bone age and spine and pelvic anomalies. [orpha.net]

(Etiology) Etiology of CODAS Syndrome remains unknown but some of the features suggest involvement of a collagen gene defect The occurrence of two affected children within the Manitoba Mennonite community (a genetic isolate) suggests autosomal recessive [dovemed.com]

[from OMIM] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement [ncbi.nlm.nih.gov]

Summary Epidemiology To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. [orpha.net]

Epidemiology To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. [rarediseases.info.nih.gov]

Perspectives & Innovations (Followers: 6) Epidemiology, Biostatistics and Public Health (Followers: 20) EsSEX : Revista Científica (Followers: 1) Estudios sociales : Revista de alimentación contemporánea y desarrollo regional (Followers: 1) Ethics & [journaltocs.ac.uk]

On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. [ncbi.nlm.nih.gov]

Long COVID or post-COVID-19 syndrome: putative pathophysiology, risk factors, and treatments. Infect Dis (Lond) [Internet]. 2021 [cited 2022 Mar 15];53(10):737–54. [revistaspmi.org.py]

Careful intraoperative positioning is required to prevent joint dislocations. Developmental delay may limit patient cooperation. [accessanesthesiology.mhmedical.com]

Ultimately, the degree of immunocompromise for the patient is determined by the treating provider, and preventive actions are tailored to each individual and situation. [cdc.gov]

Economics (Followers: 18) American Journal of Health Education (Followers: 34) American Journal of Health Promotion (Followers: 34) American Journal of Health Sciences (Followers: 10) American Journal of Health Studies (Followers: 13) American Journal of Preventive [journaltocs.ac.uk]

As a heat-shock protein with ATPase activity, it prevents the accumulation of unfolded, dysfunctional proteins20. [nature.com]