Rare Oncology News

Disease Profile

Cousin syndrome

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed.[1] Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.[2]

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
Brachydactyly
Short fingers or toes
0001156
Congenital hip dislocation
Dislocated hip since birth
0001374
Elbow flexion contracture
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
Short stature
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
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
2-3 toe syndactyly
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
Autosomal recessive inheritance
0000007
Bell-shaped thorax
0001591
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cleft palate
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
Hydrocephalus
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
Micrognathia
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

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

  1. 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.
  2. 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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