microcephaly-brachydactyly-kyphoscoliosis syndrome
Findings
No curated finding names microcephaly-brachydactyly-kyphoscoliosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0018091), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Decreased muscle massHPOHP:0003199
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Flat occiputHPOHP:0005469
- Very frequent (80% to 99% of cases)
- High, narrow palateHPOHP:0002705
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Macrotia
Show the remaining 7
- Atlantoaxial abnormalityHPOHP:0003413
- Frequent (30% to 79% of cases)
- Broad halluxHPOHP:0010055
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Hypermobility of interphalangeal jointsHPOHP:0005620
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: microcephaly-brachydactyly-kyphoscoliosis syndrome
- Also called
- Viljoen-Kallis-Voges syndrome