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Start free with EleplanOtopalatodigital syndrome type 2
ORPHA:90652Malformation syndrome
Also called OPD II syndrome · OPD syndrome 2
What it is
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- X-linked dominant
- 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%
21- Abnormal pinna morphology
- Anodontia
- Bowing of the long bones
- Broad forehead
- Cleft palate
- Depressed nasal bridge
- Downslanted palpebral fissures
- Hearing impairment
- Hypertelorism
- Large fontanelles
- Low-set ears
- Malar flattening
- Narrow chest
- Narrow mouth
- Oligodontia
- Prominent supraorbital ridges
- Pulmonary hypoplasia
- Short hallux
- Short nose
- Short thumb
- Skeletal dysplasia
Common30–79%
25- Abnormal cardiac septum morphology
- Abnormal heart valve morphology
- Abnormal metacarpal morphology
- Abnormal rib morphology
- Abnormal vertebral segmentation and fusion
- Camptodactyly of finger
- Cerebellar hypoplasia
- Elbow dislocation
- Failure to thrive
- Fibular aplasia
- Flared iliac wings
- Global developmental delay
- Glossoptosis
- Hydrocephalus
- Hydronephrosis
- Hypoplastic frontal sinuses
- Hypospadias
- Increased bone mineral density
- Intellectual disability
- Micrognathia
- Omphalocele
- Pierre-Robin sequence
- Short palm
- Thickened calvaria
- Ureteral obstruction
Sometimes5–29%
9- Carpal synostosis
- Cataract
- Developmental glaucoma
- Encephalocele
- Myelomeningocele
- Preaxial polydactyly
- Scoliosis
- Synostosis of carpal bones
and 1 more in this range
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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