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Start free with EleplanMicrobrachycephaly-ptosis-cleft lip syndrome
ORPHA:2511Malformation syndrome
Also called Richieri Costa-Guion Almeida-Ramos syndrome
What it is
Microbrachycephaly-ptosis-cleft lip syndrome is characterised 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
34- Abnormality of finger
- Abnormality of the ear
- Abnormality of the pubic bone
- Abnormality of the wrist
- Abnormal metacarpal morphology
- Abnormal thumb morphology
- Abnormal zygomatic bone morphology
- Bilateral single transverse palmar creases
- Brachycephaly
- Brachydactyly
- Delayed cranial suture closure
- Flat occiput
- Global developmental delay
- Hearing abnormality
- Hypotelorism
- Intellectual disability
- Large fontanelles
- Large iliac wings
- Long face
- Malar flattening
- Mandibular prognathia
- Microcephaly
- Narrow face
- Narrow nasal bridge
- Pectus excavatum
- Ptosis
- Scoliosis
- Severe short stature
- Shagreen patch
- Short palm
- Specific learning disability
- Strabismus
- Underdeveloped supraorbital ridges
- Unilateral cleft lip
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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