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Start free with EleplanOculodentodigital dysplasia
ORPHA:2710Malformation syndrome
Also called Meyer-Schwickerath syndrome · Meyer-Schwickerath-Weyers syndrome · ODDD syndrome · ODOD syndrome · Oculo-dento-digital dysplasia · Oculodentodigital syndrome · Oculodentodigitalis dysplasia · Oculodentoosseous dysplasia · Osseous-oculo-dental dysplasia
What it is
A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, 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%
14Common30–79%
42- Abnormal cortical bone morphology
- Abnormal fingernail morphology
- Abnormality of the eye
- Abnormality of vision
- Abnormal metaphysis morphology
- Abnormal nail morphology
- Abnormal pinna morphology
- Anteverted nares
- Aplasia/Hypoplasia of the cerebellum
- Aplasia/Hypoplasia of the middle phalanges of the hand
- Ataxia
- Broad alveolar ridges
- Camptodactyly of finger
- Cataract
- Cerebral calcification
- Clinodactyly
- Conductive hearing impairment
- Cranial hyperostosis
- Curly hair
- Dysarthria
- Gait disturbance
- Glaucoma
- High forehead
- High hypermetropia
- Hyperostosis
- Hyperreflexia
- Hypertelorism
- Hypotelorism
- Mandibular prognathia
- Median cleft lip
- Mild global developmental delay
- Muscle weakness
- Myopia
- Neurogenic bladder
- Optic atrophy
- Seizure
- Short nose
- Slow-growing hair
- Sparse hair
- Spasticity
- Spastic paraparesis
- Visual impairment
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.
Gene
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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