Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanMicrocephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636Malformation syndrome
Also called MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type · Primordial microcephalic dwarfism, Crachami type · Taybi-Linder syndrome
What it is
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, 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%
62- Abnormal distal phalanx morphology of finger
- Abnormal form of the vertebral bodies
- Abnormal intervertebral disk morphology
- Abnormality of calcium-phosphate metabolism
- Abnormality of finger
- Abnormality of the kidney
- Abnormality of the pubic bone
- Abnormality of the skeletal system
- Abnormality of the upper urinary tract
- Abnormality of the urinary system
- Abnormally ossified vertebrae
- Abnormal metacarpal morphology
- Abnormal metaphysis morphology
- Alopecia
- Aplasia/hypoplasia of the femur
- Aplastic clavicles
- Bifid femur
- Bilateral single transverse palmar creases
- Brachydactyly
- Broad distal phalanx of finger
- Bulbous nose
- Delayed skeletal maturation
- Dyspnea
- Epileptic spasm
- Generalized non-motor (absence) seizure
- Glaucoma
- Global developmental delay
- Hydronephrosis
- Hydroureter
- Hypertonia
- Intellectual disability
- Intrauterine growth retardation
- Large hands
- Large iliac wings
- Long nose
- Loss of eyelashes
- Low-set ears
- Microcephaly
- Micrognathia
- Micromelia
- Muscle stiffness
- Osteomalacia
- Osteopenia
- Osteoporosis
- Posteriorly rotated ears
- Premature birth
- Prominent nose
- Prominent occiput
- Proptosis
- Respiratory failure
- Retrognathia
- Rickets
- Rigidity
- Seizure
- Severe short stature
- Short neck
- Short palm
- Sparse hair
- Spasticity
- Specific learning disability
- Status epilepticus
- Thin eyebrow
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.