Cousin syndrome
Alternate names[edit | edit source]
Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia
Definition[edit | edit source]
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 | edit source]
Mutations in the TBX15 gene causes this condition.
Inheritance[edit | edit source]
It is inherited in an autosomal recessive pattern.
Signs and symptoms[edit | edit source]
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 | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Cousin syndrome is a rare disease.
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