Ophthalmology · Ophthalmology / Congenital malformation
Hallermann–Streiff syndrome
also: Oculomandibulofacial syndrome
Congenital cataract, mandibular hypoplasia and hypotrichosis.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- GJA1
- Alternative names & eponyms
- Oculomandibulofacial syndrome
Etiology & mechanism
GJA1 mutations affecting gap junctions.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Hallermann–Streiff 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
Rubinstein–Taybi syndrome
beaked nose, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bazex–Dupré–Christol syndrome
hypotrichosis
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
1 shared
Costello syndrome
short stature
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