Myotonia with skeletal dysplasia and blepharophimosis.
- Specialty
- Neurology
- Subspecialty
- Neurology / Myopathies
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- HSPG2
- Alternative names & eponyms
- Chondrodystrophic myotonia
Etiology & mechanism
Perlecan deficiency.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Schwartz–Jampel syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Winchester syndrome
joint contractures, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Beals–Hecht syndrome
joint contractures
1 shared
Blepharophimosis–ptosis–epicanthus inversus syndrome
blepharophimosis
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
1 shared
Coffin–Lowry syndrome
short stature
Shares genes with
None.
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