Rare diseases · Sign or symptom
Microphthalmia
Abnormally small eyeball
HP:0000568
What it means
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Rare diseases that can present with this135
Very common80–99%
37- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Biemond syndrome type 2
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- COFS syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital fibrinogen deficiency
- Congenital primary aphakia
- Ectodermal dysplasia-blindness syndrome
- Hallermann-Streiff syndrome
- Hartsfield syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Isolated complete colobomatous microphthalmia
- Kapur-Toriello syndrome
- Linear nevus sebaceus syndrome
- Macrosomia-microphthalmia-cleft palate syndrome
- Matthew-Wood syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- Microphthalmia-ankyloblepharon-intellectual disability syndrome
- Microphthalmia, Lenz type
- Microphthalmia-microtia-fetal akinesia syndrome
- Microphthalmia with brain and digit anomalies
- Microphthalmia with limb anomalies
- Microphthalmia with linear skin defects syndrome
- Micro syndrome
- MMEP syndrome
- Monosomy 9q22.3 syndrome
- Mosaic trisomy 9 syndrome
- Mosaic variegated aneuploidy syndrome
- Norrie disease
- Oculofaciocardiodental syndrome
- Oculo-palato-cerebral syndrome
- Persistent hyperplastic primary vitreous
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Ring chromosome 10 syndrome
- Trisomy 13 syndrome
- XK aprosencephaly syndrome
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Common30–79%
34- Adams-Oliver syndrome
- Aicardi syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- BRESEK syndrome
- CHARGE syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Congenital rubella syndrome
- Congenital varicella syndrome
- Craniotelencephalic dysplasia
- Curry-Jones syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Fetal alcohol syndrome
- Focal dermal hypoplasia
- Fraser syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Frontorhiny
- Holoprosencephaly
- Holoprosencephaly-radial heart renal anomalies syndrome
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Isolated arrhinia
- Meckel syndrome
- MEND syndrome
- Monosomy 13q14 syndrome
- Mycophenolate mofetil embryopathy
- Nasopalpebral lipoma-coloboma syndrome
- Pallister-Hall syndrome
- PHACE syndrome
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Spondylo-ocular syndrome
- Tetraamelia-multiple malformations syndrome
- Uveal coloboma-cleft lip and palate-intellectual disability
- Walker-Warburg syndrome
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: Abnormally small globe of eye · Decreased size of eyeball · Decreased size of globe of eye · Microphthalmos · Nanophthalmos
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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.