Upper extremity differences that are present at birth are called congenital abnormalities or disorders. These differences may range from mild, such as constriction bands on the fingers, to severe, such as part of an arm remaining unformed. [lihandtoshouldercenter.com]

is a congenital problem, which means that it is present at birth. [kidspot.com.au]

The World Health Organization (WHO) describes a congenital disorder (CD) or birth defect as an abnormality in the structure or function of a person, which is present from birth. [geneticalliance.org.za]

A "birth defect" is a health problem or physical change, which is present in a baby at the time he/she is born. [ummchealth.com]

Abnormal subcutaneous fat distribution and chronic diarrhea each may or may not be present. [mayomedicallaboratories.com]

• Epilepsy

  For pediatric patients with epilepsy, responsive neurostimulation, laser thermal ablation, and Gamma Knife radiosurgery are all offered in addition to traditional resective procedures. [neurosurgery.ucsf.edu]

  Predominant neurological signs and symptoms are psychomotor retardation, epilepsy, hypotonia, hyporeflexia, strabismus, retinitis pigmentosa, polyneuropathy, myopathy, and cerebellar hypotrophy/hypoplasia. [ncbi.nlm.nih.gov]

  ST3GAL5-CDG – Affected individuals (some 46 reported) have developed infantile-onset seizures (epilepsy). [rarediseases.org]

• Trisomy 21

  The most well-known and common condition with a difference in chromosome number is Down syndrome (also known as trisomy 21). [centerforfetalmedicine.com]

  Associations Congenital cardiac anomalies can be found with many aneuploidic conditions which include: trisomy 18 : up to 90% can have cardiac anomalies trisomy 13 : up to 90% trisomy 21 : up to 50% Turner syndrome : up to 40% Related Radiopaedia articles [radiopaedia.org]

  Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21 ( Down syndrome ), trisomy 13 (Patau syndrome ), and trisomy 18 (Edwards syndrome) are the most frequent birth defects. [nature.com]

  Most people with non-mosaic Down syndrome have three copies of chromosome 21 in all of their cells (chromosome 21 trisomy); some have an extra copy of chromosome 21 attached to a different chromosome in all of their cells (chromosome 21 translocation) [ssa.gov]

• Cerebral Palsy

  Pediatric neurosurgeons at UCSF also have vast experience with selective dorsal rhizotomy for cerebral palsy, and these patients are treated in conjunction with orthopaedic surgery, physical medicine/rehabilitation physicians, and ancillary specialists [neurosurgery.ucsf.edu]

  Congenital disorders treated Our orthopaedists have the compassion and experience to treat a variety of congenital disorders, including: Cerebral palsy Muscular dystrophy Osteogenesis imperfecta ("brittle bone disease") Skeletal dysplasias (affects bone [ummchealth.com]

  Cerebral palsy can include milder versions or more severe symptoms which lead to total dependency. Although cerebral palsy is a lifelong condition, training and therapy can help improve function. [omicsonline.org]

  United Cerebral Palsy (UCP) 1825 K Street NW Suite 600 Washington, DC 20006 Phone: 800.872.5827 E-mail [email protected] Website http://ucp.org What are the Congenital Disorders of Glycosylation? 11.07.2013 [day2dayparenting.com]

  Cerebral palsy : Damage to areas of the brain responsible for muscle control. In spina bifida and sacral agenesis, the bladder is known to change through the patient’s life. [my.clevelandclinic.org]

• Malnutrition

  Neural tube defects such as spina bifida Down Syndrome caused by an extra chromosome The World Health Organization (WHO) estimates that about half of all congenital anomalies can be linked to a specific cause, such as infection, malnutrition or alcohol [surgery.about.com]

• Failure to Thrive

  Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar ( hypoglycemia ), liver problems, and normal developmental potential. [2] Last updated: 9/21/2011 [rarediseases.info.nih.gov]

  Feeding difficulties leading to failure to thrive is also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

  Early signs include: Low muscle tone Failure to thrive (slow growth) Feeding difficulties Developmental delay Liver disease Bleeding tendencies Crossed eyes Seizures Cerebellar hypoplasia (changes in the area of the brain responsible for balance) How [day2dayparenting.com]

• Jaundice

  Criglar-Najjar Syndrome, Type I † Absence of bilirubin conjugation enzyme †Marked unconjugated hyperbilirubinemia & jaundice †May cause death in infancy 3. [hepatitiscentral.com]

  Biliary atresias present with cholestatic jaundice starting after the first 2 weeks of life and may eventually cause biliary cirrhosis and liver failure. [oxfordmedicine.com]

  Klinefelter syndrome Kabuki syndrome L [ edit ] Larsen syndrome Laurence–Moon syndrome Lissencephaly M [ edit ] Marfan syndrome Microcephaly Microtia Monosomy 9p Myasthenic syndrome Myelokathexis N [ edit ] Nager's Syndrome Nail–patella syndrome Neonatal jaundice [en.wikipedia.org]

  This disorder is characterized by yellowing of the skin and whites of the eyes (jaundice), an abnormally large spleen (splenomegaly), gallstones (cholelithiasis), premature destruction of red blood cells (hemolysis) and low levels of circulating red blood [rarediseases.org]

• Neonatal Jaundice

  jaundice Neurofibromatosis Neuronal ceroid lipofuscinosis Noonan syndrome Nystagmus O [ edit ] Ochoa syndrome Oculocerebrorenal syndrome P [ edit ] Pallister–Killian syndrome Pectus excavatum Pectus carinatum Pierre Robin syndrome Poland syndrome Polydactyly [en.wikipedia.org]

• Ear Deformity

  These include: Breast Deformities Cleft Lip/Cleft Palate Craniofacial/Skull Ear Deformities Facial Paralysis Hemifacial Microsomia Nasal Deformities Treacher Collins Syndrome Vascular Malformations At Plastic and Craniofacial Surgery for Infants and Children [kidsplastsurg.com]

• Nystagmus

  […] syndrome Lissencephaly M [ edit ] Marfan syndrome Microcephaly Microtia Monosomy 9p Myasthenic syndrome Myelokathexis N [ edit ] Nager's Syndrome Nail–patella syndrome Neonatal jaundice Neurofibromatosis Neuronal ceroid lipofuscinosis Noonan syndrome Nystagmus [en.wikipedia.org]

  They may also have rapid, involuntary eye movements (nystagmus), dysmorphic facial features and multiple congenital anomalies affecting multiple systems of the body including gastrointestinal, genitourinary, and cardiac systems. [rarediseases.org]

  The single patient thus far identified with this form of CDG exhibited severe psychomotor retardation, spasms, hypsarrhythmia, and irregular nystagmus (involuntary eye movements). Examination of the brain by MRI showed significant dysmyelination. [themedicalbiochemistrypage.org]

• Profound Intellectual Disability

  The symptoms observed in CDG-IIn include profound psychomotor retardation with delayed head control, severe hypotonia, inability to walk, variable ability to sit independently, and profound intellectual disability, strabismus, recurrent infections, and [themedicalbiochemistrypage.org]

Workup An accurate radiologic evaluation is essential. Standard posteroanterior (PA) and lateral views of the entire spine are used for the initial evaluation. [emedicine.medscape.com]

Treatment - Congenital disorder of glycosylation type 1C No treatment is available for most of these disorders. Resources - Congenital disorder of glycosylation type 1C Not supplied. [checkorphan.org]

People with very mild cases may not require treatment with a low-phenylalanine diet [omicsonline.org]

Therefore, both diagnosis and treatment should be organised in experienced centres. [erswhitebook.org]

PMI-CDG This is the only CDG that has an effective treatment. Individuals are given a specific sugar called mannose, which then can improve the glycosylation. This treatment has been successful in several cases of PMI-CDG. [cafamily.org.uk]

If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan. [hopkinsmedicine.org]

Prognosis - Congenital disorder of glycosylation type 1C Not supplied. Treatment - Congenital disorder of glycosylation type 1C No treatment is available for most of these disorders. [checkorphan.org]

Prognosis depends on the type of atresia: (1) intrahepatic—both nonsyndromic (with cirrhosis usually developing in late childhood, and fatal without liver transplantation) and syndromic (e.g. Alagille’s syndrome, due to mutation in the ... [oxfordmedicine.com]

In addition, in cases where the natural history indicates a poor prognosis, orthotic treatment is contraindicated. [emedicine.medscape.com]

Prognosis for Congenital Disorders of Glycosylation Some children with Congenital Disorders of Glycosylation have serious, life-threatening medical problems during infancy. [day2dayparenting.com]

What is the prognosis for a person with Congenital Disorder of Glycosylation Type Ia? Twenty percent of people with CDG-Ia die within the first year of life, often due to infection, liver problems, or heart disease. [counsyl.com]

The etiology of these disorders will be studied using candidate gene analysis (primarily based on the PI3K/AKT pathway) and possibly exome and whole genome sequencing (done under protocol 10-HG-0065). [clinicaltrials.gov]

These lesions are usually soft tissue or bone abscesses, and the etiologic agents are typically staphylococci, gram-negative enteric species, or fungi. [ncbi.nlm.nih.gov]

Pathology These defects as a group have a heterogeneous etiology with many resulting from an interplay between both genetic and environmental factors. [radiopaedia.org]

With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur [merckmanuals.com]

Provide a training ground for public health scientists in tracking and epidemiologic methods. [cdc.gov]

EUROCAT EUROCAT (European Surveillance of Congenital Anomalies) is a European network of population-based registries for the epidemiologic surveillance of congenital anomalies. See the EUROCAT website. [gov.uk]

An aetiological classification of birth defects for epidemiological research. J Med Genet. 2005; 42 :54–57. [ PubMed ] 5. [ncbi.nlm.nih.gov]

The pathophysiology results from depressed synthesis or remodeling of oligosaccharide moieties of glycoproteins. The ultimate result is the formation of abnormal glycoproteins affecting their structure and metabolic functions. [ncbi.nlm.nih.gov]

[…] be helpful Screening for congenital disorders of glycosylation Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Medline and Science Direct search terms included: preconception, pre-pregnancy, childbearing, reproduction, care, intervention, primary care, healthcare, model, program, prevention, trial, efficacy, effectiveness, congenital disorders OR abnormalities [ncbi.nlm.nih.gov]

You can also find out more about preventive medicine and the steps you can take to keep you and your family healthy by reading the companion article Wellness and Prevention in an Era of Patient Responsibility. [labtestsonline.org]

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]