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]

  […] 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]

  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]

• Tall Stature

  Intellectual disability, progressive Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Tall [rarediseases.info.nih.gov]

• Abnormal Teeth

  […] isoelectric focusing of serum transferrin 0003160 Abnormal rib cage morphology Abnormality of the rib cage 0001547 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive [rarediseases.info.nih.gov]

• Receding Chin

  chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Seizure 0001250 Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Sensorineural hearing impairment 0000407 Short neck Decreased length of neck 0000470 Short stature Decreased [rarediseases.info.nih.gov]

• Gingival Overgrowth

  overgrowth Gum enlargement 0000212 Hypertonia 0001276 Long eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 Low hanging columella 0009765 Macrocephaly Increased size of skull Large head Large head circumference [ more [rarediseases.info.nih.gov]

• Sparse Hair

  hair 0008070 Percent of people who have these symptoms is not available through HPO Abnormal isoelectric focusing of serum transferrin 0003160 Abnormal rib cage morphology Abnormality of the rib cage 0001547 Abnormality of the dentition Abnormal dentition [rarediseases.info.nih.gov]

• Sparse Hair

  hair 0008070 Percent of people who have these symptoms is not available through HPO Abnormal isoelectric focusing of serum transferrin 0003160 Abnormal rib cage morphology Abnormality of the rib cage 0001547 Abnormality of the dentition Abnormal dentition [rarediseases.info.nih.gov]

• 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]

• Self-Mutilation

  Deliberate self-harm Self mutilation [ more ] 0000742 Sensorineural hearing impairment 0000407 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Slender long bone Long bones slender Thin long [rarediseases.info.nih.gov]

• Self-Mutilation

  Deliberate self-harm Self mutilation [ more ] 0000742 Sensorineural hearing impairment 0000407 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Slender long bone Long bones slender Thin long [rarediseases.info.nih.gov]

• Thin Lips

  […] volume of lip Thin 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 [rarediseases.info.nih.gov]

  Affected individuals had small head circumference, retrognathia, long eyelashes, thick eyebrows, prominent columella, prominent nasal bridge, thin upper lip, everted lower lip, diastema, and an open mouth due to the combination of retrognathia and an [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]

• 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]

• Prominent Nasal Root

  nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding tongue Prominent tongue Tongue sticking out of mouth [ more ] 0010808 Proximal [rarediseases.info.nih.gov]

• Unstable Gait

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