microbrachycephaly-ptosis-cleft lip syndrome
Findings
No curated finding names microbrachycephaly-ptosis-cleft lip syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0010007), read 2026-09-29. CC BY 4.0.
Features
36 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 finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal pubic bone morphologyHPOHP:0003172
- Very frequent (80% to 99% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Very frequent (80% to 99% of cases)
- Abnormal zygomatic bone morphologyHPOHP:0010668
- Very frequent (80% to 99% of cases)
- Abnormality of the earHPOHP:0000598
- Very frequent (80% to 99% of cases)
Show the remaining 24
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing abnormalityHPOHP:0000364
- Very frequent (80% to 99% of cases)
- HypotelorismHPOHP:0000601
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- Large iliac wingHPOHP:0008818
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: microbrachycephaly-ptosis-cleft lip syndrome
- Also called
- Richieri Costa-Guion Almeida-Ramos syndrome