Rare Neurology News
Disease Profile
Cousin syndrome
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.
<1 / 1 000 000
Age of onset
Infancy
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)
Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Cousin
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
|
|---|---|---|
| 100% of people have these symptoms | ||
| Abnormality of the joint spaces of the elbow | 0003943 | |
|
Short fingers or toes
|
0001156 | |
|
Dislocated hip since birth
|
0001374 | |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
| Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
| Hypoplastic ilia | 0000946 | |
| Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Mesomelic leg shortening | 0004987 | |
| Short femur |
Short thighbone
|
0003097 |
| Short neck |
Decreased length of neck
|
0000470 |
| 80%-99% of people have these symptoms | ||
| Abnormality of the skull base | 0002693 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
| Frontal bossing | 0002007 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ] |
0005989 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| 4-5 toe syndactyly |
Webbed 4th-5th toes
|
0004692 |
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Absent proximal finger flexion creases | 0006077 | |
| Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
| Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| Anterior rounding of vertebral bodies | 0008488 | |
| 0000007 | ||
| Bell-shaped thorax | 0001591 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
|
Cleft roof of mouth
|
0000175 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Dislocated radial head | 0003083 | |
| Facial hirsutism | 0009937 | |
| Fibular aplasia |
Absent calf bone
|
0002990 |
| Hydranencephaly | 0002324 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hydronephrosis | 0000126 | |
| Hypoplastic iliac wing | 0002866 | |
| Hypoplastic ischia | 0003175 | |
| Hypoplastic pubic bone | 0003173 | |
| Joint contracture of the hand | 0009473 | |
| Long clavicles |
Long collarbone
|
0000890 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ] |
0000171 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Microtia, first degree | 0011266 | |
| Prominent protruding coccyx |
Prominent protruding tailbone
|
0008472 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Toe syndactyly |
Fused toes
Webbed toes
[ more ] |
0001770 |
| Wrist flexion contracture | 0001239 | |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Learn 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.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cousin syndrome. Click on the link to view a sample search on this topic.
References
- Pr Raoul Hennekam. Pelviscapular dysplasia. Orphanet. December 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333. Accessed 10/10/2013.
- Lausch, et al. Am J Hum Genet. November 17, 2008; 83:649-655. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668032/. Accessed 10/10/2013.
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