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]

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]

Keywords: N‐glycosylation; transferrin isoelectric focusing; inverted nipples; congenital anomalies; ataxia; seizures; developmental delay; cutis laxa; liver disease; thrombosis References Babovic‐Vuksanovic D and O'Brien JF (2007) Laboratory diagnosis [els.net]

laxa NA B3GLCT B3GLCT-CDG Peters Plus syndrome CHST14 CHST14-CDG Musculocontractural type Ehlers-Danlos syndrome COG1 COG1-CDG CDG-IIg COG2 COG2-CDG NA COG4 COG4-CDG CDG-IIj COG5 COG5-CDG CDG-IIi COG6 COG6-CDG CDG-IIL COG7 COG7-CDG CDG-IIe COG8 COG8- [invitae.com]

Mutations of this gene are also known to cause autosomal recessive cutis laxa (ARCL) and wrinkly skin syndrome. [rarediseases.org]

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]

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]

[…] 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]

These three MDDG disorders are associated with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. [themedicalbiochemistrypage.org]

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]