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Disease Profile
Camptodactyly syndrome Guadalajara type 1
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
Q87.1
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)
GCS 1; FTSS; Faciothoracoskeletal syndrome
Categories
Congenital and Genetic Diseases
Summary
Orpha Number: 1327
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 | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of dental eruption |
Abnormality of tooth eruption
|
0006292 |
Attached earlobe | 0009907 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Flat face |
Flat facial shape
|
0012368 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Global |
0001263 | |
Hallux valgus |
Bunion
|
0001822 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Narrow mouth |
Small mouth
|
0000160 |
Scapular winging |
Winged shoulder blade
|
0003691 |
0001250 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Spina bifida | 0002414 | |
Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
5%-29% of people have these symptoms | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Low-set, posteriorly rotated ears | 0000368 | |
Sacral dimple |
Spinal dimple
|
0000960 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Percent of people who have these symptoms is not available through HPO | ||
Absent ethmoidal sinuses | 0005456 | |
Absent frontal sinuses | 0002688 | |
0000007 | ||
Bifid uvula | 0000193 | |
Camptodactyly of 2nd-5th fingers | 0001215 | |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Horizontal sacrum | 0003440 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more
These 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. Rare Ophthalmology News |