spondyloepiphyseal dysplasia, Cantu type
Findings
No curated finding names spondyloepiphyseal dysplasia, Cantu type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Definition from the Mondo Disease Ontology (MONDO:0012716), read 2026-09-29. CC BY 4.0.
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metatarsal morphologyHPOHP:0001832
- Frequent (30% to 79% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Abnormality of the chinHPOHP:0000306
- Frequent (30% to 79% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia involving the pelvisHPOHP:0009103
- Frequent (30% to 79% of cases)
- Blepharophimosis
Show the remaining 27
- Cuboid-shaped vertebral bodiesHPOHP:0004634
- Frequent (30% to 79% of cases)
- Curly eyelashesHPOHP:0007665
- Frequent (30% to 79% of cases)
- Curly hairHPOHP:0002212
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Enlarged thoraxHPOHP:0100625
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: spondyloepiphyseal dysplasia, Cantu type
- Also called
- SED-BDSspondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrometattoo dysplasia