Rare diseases · Sign or symptom
Blue sclerae
Whites of eyes are a bluish-gray color
HP:0000592
What it means
An abnormal bluish coloration of the sclera.
Rare diseases that can present with this57
Very common80–99%
12- Braddock syndrome
- Brittle cornea syndrome
- Cartilage-hair hypoplasia
- Cole-Carpenter syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Grant syndrome
- Grubben-de Cock-Borghgraef syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Sensorineural hearing loss-early graying-essential tremor syndrome
- Silver-Russell syndrome
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- White forelock with malformations
Common30–79%
16- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- De Barsy syndrome
- Desbuquois syndrome
- Diastrophic dysplasia
- Loeys-Dietz syndrome
- Marshall-Smith syndrome
- Mevalonic aciduria
- Neonatal Marfan syndrome
- Osteogenesis imperfecta
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- Pycnodysostosis
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- Spondylodysplastic Ehlers-Danlos syndrome
- Trisomy 8p syndrome
Sometimes5–29%
26- 8p inverted duplication/deletion syndrome
- Arthrochalasia Ehlers-Danlos syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive cutis laxa type 2A
- Autosomal recessive methemoglobinemia
- Autosomal recessive Robinow syndrome
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Kabuki syndrome
and 18 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Blue outer white part of eyeball · Blue sclera · Bluish sclerae · Gray sclerae · Grey sclerae · Whites of eyes are a bluish-gray colour
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.