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Disease Profile
Cerebro facio thoracic dysplasia
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
Q87.5
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)
Cerebrofaciothoracic dysplasia; Pascual-Castroviejo syndrome
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Bull's eye maculopathy | 0011504 | |
0001363 | ||
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Growth |
0000824 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Patent ductus arteriosus | 0001643 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ] |
0000742 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Percent of people who have these symptoms is not available through HPO | ||
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 |
0000007 | ||
Beaking of vertebral bodies | 0004568 | |
Bifid ribs |
Cleft ribs
Split ribs
[ more ] |
0000892 |
Brachycephaly |
Short and broad skull
|
0000248 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Flat face |
Flat facial shape
|
0012368 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Inguinal hernia | 0000023 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ] |
0001520 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Low-set, posteriorly rotated ears | 0000368 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Microdontia of primary teeth |
Decreased width of baby teeth
Decreased width of milk teeth
[ more ] |
0006347 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Motor delay | 0001270 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 <
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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