Cousin syndrome

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Cousin syndrome
File:Autorecessive.svg
Synonyms
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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

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

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

Cause

Mutations in the TBX15 gene causes this condition.

Inheritance

It is inherited in an autosomal recessive pattern.

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. 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)

NIH genetic and rare disease info

• NIH info on Cousin syndrome

Cousin syndrome is a rare disease.

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