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]

• 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 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]

• 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]

• Sparse Eyebrows

  Affected individual can develop a prematurely aged appearance, fine curly hair, sparse eyebrows, loose but elastic (hyperelastic) skin, abnormally loose or mobile joints (joint hyperlaxity), microcephaly and features of Ehlers-Danlos syndrome. [rarediseases.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]

• Tremor

  Epilepsy Cerebrovascular disorders (including arteriovenous malformation and stroke) Spina bifida Chiari malformation Craniofacial anomalies and craniosynostosis Hydrocephalus Spasticity Cerebral palsy Movement disorders (including dystonia, essential tremor [neurosurgery.ucsf.edu]

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]

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]

The Pediatric Brain Center is designed to integrate care across the clinical neurosciences, providing a single ‘home’ that can guide patients and their families through their medical evaluation and treatment, with all the specialists they need in one [neurosurgery.ucsf.edu]

All diagnostic endeavors are followed by the quest for a reliable treatment. The isolated success of CDG-Ib treatment will be described with the hope that this may expand to other type I CDG disorders. [ncbi.nlm.nih.gov]

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]

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]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

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]

The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance in acute crisis, and liver disease of unexplained etiology. [mayomedicallaboratories.com]

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

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]

Surgeons remove the affected lobe to prevent further damage to the lung. Most doctors recommend waiting until your child is between 6 months and 1 year old before surgery. [childrens.com]

Through this research we aim to provide information that can be used to improve how these disorders are diagnosed, treated and prevented and their long term consequences for children's health and well-being and that of their families. [ucl.ac.uk]

Though Down syndrome can't be prevented, it can be detected before a child is born. [omicsonline.org]