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Start free with EleplanHydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
ORPHA:2180Malformation syndrome
Also called Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome
What it is
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Unknown
- 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
Common30–79%
23- Abnormal form of the vertebral bodies
- Abnormality of dental enamel
- Abnormality of skin pigmentation
- Abnormal rib morphology
- Anteverted nares
- Atypical behavior
- Brachydactyly
- Bulbous nose
- Cutaneous photosensitivity
- Depressed nasal bridge
- Hemivertebrae
- High forehead
- High palate
- Hypertelorism
- Intellectual disability
- Low-set ears
- Macrocephaly
- Malar flattening
- Obesity
- Prominent nose
- Sandal gap
- Scoliosis
- Wide nasal bridge
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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