Disease 2005 - present MemberDutch Society for Metabolic Disorders 2004 - present MemberDutch Society of Pediatrics 2002 - present MemberASHG 2002 - present MemberEuropean Society of Human Genetics 1998 - present MemberAmerican Society of Human Genetics [mayoclinic.org]

Both findings are consistently present and are required for the diagnosis. [pubs.rsna.org]

Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]

At 11 years of age, dysmorphic features, severe mental retardation, diarrhoea, and growth retardation were still present (height 120.8 cm (−4 SD), weight 23 kg (−2.5 SD), OFC 50.5 cm (−2 SD)). [jmg.bmj.com]

A 4-year-old girl who initially presented with symptoms resulting from raised intracranial pressure underwent acute neurosurgical intervention for intracranial hemorrhage. [thejns.org]

• Short Stature

  stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD), B3GAT3-congenital disorder of glycosylation (B3GAT3-CDG) Peters-plus syndrome, B3GLCT-congenital disorder of glycosylation (B3GLCT-CDG) B4GALNT1-congenital disorder [invitae.com]

  stature Decreased body height Small stature [ more ] 0004322 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Thick eyebrow Bushy eyebrows Dense [rarediseases.info.nih.gov]

  Other features included mild to moderate bilateral sensorineural hearing loss, early hypotonia and late hypertonia, short terminal phalanges, and poor general growth with postnatal short stature. [findzebra.com]

  Birth defects (dysmorphism) are rare in pontocerebellar hypoplasia, but deformities such as contractures and clubfoot and short stature have been reported. [rarediseases.org]

  stature and limb anomalies 130070 B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags Green Green List (high evidence) CCDC115 [panelapp.genomicsengland.co.uk]

• Recurrent Infection

  Therefore, clinical features such as syndromic fat pads and/or inverted nipples, chronic diarrhea, liver fibrosis, ichtiosis syndrome, different neurosyndomatic conditions (e.g. cataract, sensorineural deafness, radio-ulnar synostosis, recurrent infections [biochemia-medica.com]

  infection syndrome, autosomal recessive) DOK7 (Fetal akinesia deformation sequence) DPAGT2 (Congenital disorder of glycosylation, type Ij) DPM1 (Congenital disorder of glycosylation, type Ie) DPM3 (Congenital disorder of glycosylation, type Io) DPP6 [de.praenatal-medizin.de]

  A typical feature was recurrent infections with marked leukocytosis. Neutrophils of these patients lack sialyl-Lewis x, a fucose-containing carbohydrate ligand of the selectin family of cell adhesion molecules. [nature.com]

• Recurrent Respiratory Infections

  He later developed gastrointestinal problems, such as gastroesophageal reflux and volvulus, recurrent respiratory infections, and seizures. Kyphoscoliosis was also present. [findzebra.com]

• Intestinal Disease

  CDGs affect all organs and particularly the CNS, except for CDG-Ib, which is mainly a hepatic-intestinal disease. [nature.com]

• Jaundice

  The two sibling neonates recently described with a multi-systemic disorder had perinatal asphyxia, mild dysmorphic features, hypotonia, prolonged jaundice and hepatosplenomegaly with evidence of liver disease. [nature.com]

• Heart Disease

  disease with neurodevelopmental disability Desbuquois dysplasia, CANT1-congenital disorder of glycosylation (CANT1-CDG) CCDC115-congenital disorder of glycosylation (CCDC115-CDG, CDG2o) CHST14-congenital disorder of glycosylation (Musculocontractural [invitae.com]

  disease, nonsyndromic, 2) TAC3 (Hypogonadotropic hypogonadism) TACR3 (Hypogonadotropic hypogonadism) TACSTD2 (Corneal dystrophy, gelatinous drop-like) TAF1 (Dystonia-Parkinsonism, X-linked) TAF15 (Chondrosarcoma, extraskeletal myxoid) TALDO1 (Transaldolase [de.praenatal-medizin.de]

• Macroglossia

  low-set ears, hypertelorism, and macroglossia). Similar to MPI-CDG, they may also have protein-losing enteropathy. Additionally, affected patients may have skeletal abnormalities including brachydactyly and finger malformations and scoliosis. [atm.amegroups.com]

• Abnormal Eye Movement

  In infancy, PMM2-CDG presents with neurologic abnormalities typically shortly after birth, namely strabismus and abnormal eye movements, cerebellar hypoplasia, hypotonia, psychomotor retardation, ataxia, hypotonia, and hyporeflexia. [atm.amegroups.com]

  The most common clinical manifestations of rhombencephalosynapsis include truncal and/or limb ataxia, abnormal eye movements, head stereotypies, and delayed motor development. [pubs.rsna.org]

• Hyperpigmentation

  […] extraocular muscles, congenital, 1) KIF5A (Spastic paraplegia 10) KIND1 (Kindler syndrome) KIND3 (Leukocyte adhesion deficiency, type III) KIRREL3 (Mental retardation, autosomal dominant 4) KISS1R (Hypogonadotropic hypogonadism) KIT (Germ cell tumors) KITLG (Hyperpigmentation [de.praenatal-medizin.de]

• Hypertrichosis

  SLC25A4 (Cardiomyopathy, familial hypertrophic) SLC26A2 (Achondrogenesis Ib) SLC26A3 (Chloride diarrhea, congenital, Finnish type) SLC26A4 (Enlarged vestibular aqueduct) SLC27A4 (Ichthyosis prematurity syndrome) SLC29A3 (Hyperpigmentation, cutaneous, with hypertrichosis [de.praenatal-medizin.de]

• Large Ears

  Dysmorphic features were mentioned in all cases and appeared distinctive with a beaked nose, long philtrum, thin vermilion border of the upper lip, large ears, gum hypertrophy, and thoracic deformity. [jmg.bmj.com]

  ears 0000400 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Midfrontal capillary hemangioma 0007466 Open mouth Gaped jawed appearance [rarediseases.info.nih.gov]

  ears, gum hypertrophy, and thoracic deformity. [findzebra.com]

  Later in infancy the so-called “typical dysmorphic” facies, with bitemporal narrowing, high nasal bridge, prominent jaw, full cheeks and large ears may become apparent. Inverted and laterally displaced nipples are less consistent features. [nature.com]

• Coxa Valga

  […] the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Autosomal recessive inheritance 0000007 Brachycephaly Short and broad skull 0000248 Coxa [rarediseases.info.nih.gov]

• Thin Lips

  lips [ more ] 0000233 Thoracolumbar kyphoscoliosis 0003423 Type II transferrin isoform profile 0012301 Unsteady gait Unsteady walk 0002317 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Wide mouth Broad mouth [rarediseases.info.nih.gov]

  He had thin lips, gum hypertrophy, large and posteriorly rotated ears, hook nose, large mouth, retrognathia, short neck, and distal limb anomalies. He also showed severe developmental delay. [findzebra.com]

• Beaked Nose

  Dysmorphic features were mentioned in all cases and appeared distinctive with a beaked nose, long philtrum, thin vermilion border of the upper lip, large ears, gum hypertrophy, and thoracic deformity. [jmg.bmj.com]

  Cormier-Daire et al. (2000) described a child with CDG IIa who had severe mental retardation, chronic feeding problems with severe diarrhea, growth retardation, distinctive dysmorphic features including a beaked nose, long philtrum, thin vermilion border [findzebra.com]

• Short Neck

  neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more [rarediseases.info.nih.gov]

  He had thin lips, gum hypertrophy, large and posteriorly rotated ears, hook nose, large mouth, retrognathia, short neck, and distal limb anomalies. He also showed severe developmental delay. [findzebra.com]

• Unstable Gait

  On examination, he had severe mental retardation with no speech and an unstable gait. [jmg.bmj.com]

• Hyporeflexia

  In infancy, PMM2-CDG presents with neurologic abnormalities typically shortly after birth, namely strabismus and abnormal eye movements, cerebellar hypoplasia, hypotonia, psychomotor retardation, ataxia, hypotonia, and hyporeflexia. [atm.amegroups.com]

Galactose treatment in PGM1-CDG led to treatment trials and successful dietary treatment in other types of CDGs as well. [mayoclinic.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

In flow cytometry, the binding of Ricinus communis lectin (reactive with β‐galactose primarily) to control platelets increased after neuraminidase treatment: this increase was smaller (p < 0.01) in CDG Ia patients (3.1 ± 0.08 times) than in control platelets [onlinelibrary.wiley.com]

Treatment for glycosylation defects is mainly supportive, although targeted therapies are available for MPI-CDG, SLC35C1-CDG, PIGM-CDG, and PGM1-CDG. Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

Mention K, Lacaille F, Valayannopoulos V, et al. (2008) Development of liver disease despite mannose treatment in two patients with CDG-Ib. Mol Genet Metab 93: 40–3PubMedCrossRefGoogle Scholar 5. [link.springer.com]

In the absence of shunt-related complications, the prognosis is generally favorable. [pubs.rsna.org]

Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996;38(7):684-7. Barth PG, Blennow G, Lenard HG, et al. [rarediseases.org]

In addition, several CDGs of so far unknown etiology (CDG-x) have been recognized. [biochemia-medica.com]

Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]

Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]

Gastrostomy tube may be required for feeding; fundoplication may be needed to prevent aspiration. [rarediseases.org]

As to symptomatic treatment, we have obtained efficient prevention of stroke-like events by using 0.5 mg/kg per day acetylsalicylic acid (C. Van Geet and J. Jaeken, in preparation). [nature.com]

For example, N-acetylgalactosaminyltransferase 3 (GALNT3) O-glycosylates the phosphaturic hormone, FGF23, preventing proteolytic cleavage and allowing its intact secretion. [atm.amegroups.com]