RESULTS: Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. [ncbi.nlm.nih.gov]

• Disability

  Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:102283 Synonym(s): MCA/MR Multiple congenital anomalies-intellectual disability with or without dysmorphism Prevalence [orpha.net]

  autosomal dominant Intellectual disability, autosomal recessive Intellectual disability, syndromal Intellectual disability, X-linked Microphtalmia, syndromic Microphthalmia, isolated Microtia, hearing impairment, and cleft palate Mowat-Wilson syndrome [genomediagnosticsnijmegen.nl]

• Atrial Septal Defect

  The patient featured facial dysmorphism, generalized hypotonia, cryptorchidism, transverse palmar creases, cerebral hemorrhage, atrial septal defect secundum, strabismus, epilepsy, immunodeficiency, and severe cognitive and motor impairment. [ncbi.nlm.nih.gov]

• Short Stature

  […] posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic external genitalia, cryptorchidism, inguinal hernia, flexion contractures of joints, short stature, clenched hands, rocker-bottom feet, simian crease, [ncbi.nlm.nih.gov]

  Current release DG2.14 Previous releases DG2.13 DG2.12 DG2.11 DG2.10 DG2.9 DG2.7/DG2.8 Hypogonadotropic hypogonadisme Short stature/skeletal dysplasia Click on release number to generate pdf document with panel information. [radboudumc.nl]

  stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange Syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Turner syndrome Limbs Adducted [en.wikipedia.org]

  Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). [malacards.org]

• Trisomy 21

  The advanced maternal age of 37 years predisposed for chromosome 21 meiosis I non-disjunction in twin A. Each of the multiple congenital anomalies in twin B has been described in trisomy 21. [ncbi.nlm.nih.gov]

  21, nonmosaicism (meiotic nondisjunction) Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction) Q90.2 Trisomy 21, translocation Q90.9 Down syndrome, unspecified Q91 Trisomy 18 and Trisomy 13 Q91.0 Trisomy 18, nonmosaicism (meiotic nondisjunction) Q91.1 [icd10data.com]

  For instance Down Syndrome trisomy 21, (a numeric chromosome disorder - 47 XX or XY, +21) is a syndrome associated with a predictable constellation of major and minor anomalies that create a recognizable phenotype that allowing people who have seen other [med.umich.edu]

• Pathologist

  Author Affiliations † Instructor in pathology, Harvard Medical School; assistant pathologist, Massachusetts General Hospital. ‡ Assistant resident, Children's Medical Service, Massachusetts General Hospital. [nejm.org]

  The ultimate level of functioning is significantly enhanced by early intervention from audiologists and speech-language pathologists. [leader.pubs.asha.org]

• Vascular Disease

  Retinal Perforations, Breaks Surgical Procedures and Postoperative Cases Toxic Retinopathies; see also Light Toxicitiy Trauma (Injury) Tumors, Neoplasma Vascular Diseases (see also: Systemic Immunologic Diseases) Sclera Strabismus, Ocular Motility Disorders [atlasophthalmology.net]

[…] hypoplasia (Goltz Syndrome), Poor weight gain, Multiple congenital anomalies, Goltz syndrome, Focal dermal hypoplasia, Rash, Congenital anomalies (multiple), Integumentary/Dermatology Video Features: Vitals & Demographics Differential Diagnosis & Patient Workup [reeldx.com]

They are: treatments extremely unlikely to be beneficial; beneficial treatments extremely costly; treatments of uncertain benefit. 3 In the specific case of children with multiple congenital anomalies, there are three major sources of uncertainties regarding [scielo.br]

The surgical treatment of congenital anomalies is cutting edge at UPMC Children's Hospital of Pittsburgh. [chp.edu]

Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person�??s symptoms. [malacards.org]

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]

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]

Its prognosis is unknown and a long-term follow-up is essential for an early diagnosis of malignancy. [ncbi.nlm.nih.gov]

Uncertainties about prognosis The word prognosis, meaning a prediction, already holds the dimension of uncertainty. [scielo.br]

Furthermore, unrealistic counseling may be given about prognosis and recurrence risk. Only a few common MCA syndromes are life-threatening in the neonatal period. [accesspediatrics.mhmedical.com]

Prognosis The prognosis for any particular congenital anomaly, whether isolated or part of a sequence or syndrome, can vary greatly. [encyclopedia.com]

Prognosis depends on the specific etiology of the contractures. About the article Published Online : 2005-06-01 Published in Print : 2002-02-26 Citing Articles Here you can find all Crossref-listed publications in which this article is cited. [degruyter.com]

DISCUSSION: Multiple factors have been described as etiological factors for ACC but the etiology is not clear yet. ACC may also be associated with some syndromes. [ncbi.nlm.nih.gov]

The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Copyright © 2014 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

Epidemiology of CHD is well-described. [2], [10], [11], [12] However, we believe that changes with certain prenatal factors have altered the epidemiology of this patient population. [annalspc.com]

Oxford: National Perinatal Epidemiology Unit; 2010. 12. Boyd PA, Rounding C, Kurinczuk JJ. Second Report of the Congenital Anomaly Register for Oxfordshire, Berkshire and Buckinghamshire (CAROBB) Births 2005 to 2008. [npmj.org]

As a consequence, it is essential to have basic epidemiological information of these anomalies. Congenital anomaly rates can also used for planning health services. [afrjpaedsurg.org]

Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies. [ncbi.nlm.nih.gov]

Crossref | PubMed Angelini P, Velasco JA, Flamm S, Coronary anomalies: incidence, pathophysiology, and clinical relevance, Circulation, 2002;105:2449–54. Crossref | PubMed [ecrjournal.com]

For correction of patellar tracking and prevention of bone deformities, surgical management should be performed. [ncbi.nlm.nih.gov]

Prevention Preventive public health measures work to decrease the frequency of certain congenital anomalies through the removal of risk factors or the reinforcement of protective factors. [who.int]

European Journal of Preventive Cardiology, 23(6): 657-667 [ EČ ][ GS ] Vernuccio, F., Grutta, G., Fazio, G. (2014) Sudden cardiac death in athletes: is it always not preventable?. [scindeks.ceon.rs]