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Disease Profile
Dandy-Walker like malformation with atrioventricular septal defect
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cranio-cerebello-cardiac dysplasia; 3C syndrome; Craniocerebellocardiac dysplasia;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 7
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Dandy-Walker malformation | 0001305 | |
Frontal bossing | 0002007 | |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormal mitral valve morphology | 0001633 | |
Abnormal tricuspid valve morphology | 0001702 | |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Atrioventricular canal defect | 0006695 | |
Cleft roof of mouth
|
0000175 | |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplastic left heart |
Underdeveloped left heart
|
0004383 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
0002650 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Tetralogy of Fallot | 0001636 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
5%-29% of people have these symptoms | ||
Abnormality of neuronal migration | 0002269 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Anal atresia |
Absent anus
|
0002023 |
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ] |
0006709 |
Short fingers or toes
|
0001156 | |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Ectopic anus |
Abnormal anus position
|
0004397 |
Facial hemangioma | 0000329 | |
Feeding difficulties in infancy | 0008872 | |
Finger |
0006101 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
0000501 | ||
Hand |
Extra finger
|
0001161 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hydronephrosis | 0000126 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ] |
0001804 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Intestinal malrotation | 0002566 | |
Iris coloboma |
Cat eye
|
0000612 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. In-Depth Information
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