Cousin syndrome: Difference between revisions
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Created page with "== '''Alternate names''' == Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia == '''Definition''' == Cousin syndrome is a..." Tag: visualeditor-wikitext |
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Cousin syndrome | |||
| image = [[File:Autorecessive.svg|200px]] | |||
| caption = Autosomal recessive inheritance pattern | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Genetics]], [[Neurology]] | |||
| symptoms = [[Developmental delay]], [[Intellectual disability]], [[Seizures]], [[Hypotonia]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Other genetic disorders]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Supportive care]], [[Physical therapy]], [[Occupational therapy]] | |||
| medication = [[Anticonvulsants]] | |||
| prognosis = Variable | |||
| frequency = Rare | |||
}} | |||
== '''Alternate names''' == | == '''Alternate names''' == | ||
Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia | Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia | ||
== '''Definition''' == | == '''Definition''' == | ||
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 | 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 | ||
== '''Cause''' == | == '''Cause''' == | ||
Mutations in the '''TBX15 gene''' causes this condition. | Mutations in the '''TBX15 gene''' causes this condition. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
It is inherited in an [[autosomal recessive]] pattern. | It is inherited in an [[autosomal recessive]] pattern. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
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* Short femur(Short thighbone) | * Short femur(Short thighbone) | ||
* Short neck(Decreased length of neck) | * Short neck(Decreased length of neck) | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
* Abnormality of the skull base | * Abnormality of the skull base | ||
* Low-set ears(Low set ears) | * Low-set ears(Low set ears) | ||
* Short stature(Decreased body height) | * Short stature(Decreased body height) | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Abnormality of the pinna(Abnormally shaped ears) | * Abnormality of the pinna(Abnormally shaped ears) | ||
| Line 43: | Line 58: | ||
* [[Stenosis]] of the external auditory canal(Narrowing of passageway from outer ear to middle ear) | * [[Stenosis]] of the external auditory canal(Narrowing of passageway from outer ear to middle ear) | ||
* [[Strabismus]](Cross-eyed) | * [[Strabismus]](Cross-eyed) | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
== '''Treatment''' == | == '''Treatment''' == | ||
{{rarediseases}} | {{rarediseases}} | ||
{{stb}} | {{stb}} | ||
Latest revision as of 23:58, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Cousin syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Genetics, Neurology |
| Symptoms | Developmental delay, Intellectual disability, Seizures, Hypotonia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Other genetic disorders |
| Prevention | Genetic counseling |
| Treatment | Supportive care, Physical therapy, Occupational therapy |
| Medication | Anticonvulsants |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Alternate names[edit]
Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia
Definition[edit]
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
Cause[edit]
Mutations in the TBX15 gene causes this condition.
Inheritance[edit]
It is inherited in an autosomal recessive pattern.
Signs and symptoms[edit]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms
- Abnormality of the joint spaces of the elbow
- Brachydactyly(Short fingers or toes)
- Congenital hip dislocation(Dislocated hip since birth)
- Elbow flexion contracture(Contractures of elbows)
- Humeroradial synostosis(Fusion of upper and lower arm bones)
- Hypoplastic ilia
- Hypoplastic scapulae(Small shoulder blade)
- Macrocephaly(Increased size of skull)
- Mesomelic leg shortening
- Short femur(Short thighbone)
- Short neck(Decreased length of neck)
80%-99% of people have these symptoms
- Abnormality of the skull base
- Low-set ears(Low set ears)
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Abnormality of the pinna(Abnormally shaped ears)
- Blepharophimosis(Narrow opening between the eyelids)
- Deeply set eye(Deep set eye)
- Frontal bossing
- Hearing impairment(Deafness)
- Hypertelorism(Wide-set eyes)
- Low posterior hairline(Low hairline at back of neck)
- Redundant neck skin(Excess neck skin)
- Stenosis of the external auditory canal(Narrowing of passageway from outer ear to middle ear)
- Strabismus(Cross-eyed)
Diagnosis[edit]
Treatment[edit]
NIH genetic and rare disease info[edit]
Cousin syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Cousin syndrome
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