Peters anomaly with short stature and brachydactyly.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Glaucoma
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- B3GLCT, CYP1B1, FOXC1, PAX6, PITX2
- Alternative names & eponyms
- Krause–Kivlin syndrome
Etiology & mechanism
Defective O-fucosylation by B3GLCT.
Gene(s) involved (5)
Symptoms & signs (6)
In plain terms, someone with Peters plus 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
3 shared
Weill–Marchesani syndrome
brachydactyly, glaucoma, short stature
2 shared
Aarskog–Scott syndrome
brachydactyly, short stature
2 shared
Cardio-facio-cutaneous syndrome
developmental delay, short stature
2 shared
Fetal hydantoin syndrome
cleft lip and palate, developmental delay
2 shared
Lowe syndrome
glaucoma, short stature
2 shared
Noonan syndrome
developmental delay, short stature
2 shared
Sturge–Weber syndrome
developmental delay, glaucoma
1 shared
3M syndrome
short stature
1 shared
Aicardi syndrome
developmental delay
1 shared
Andersen–Tawil syndrome
short stature
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