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ORPHA:175Disease
Also called Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type
What it is
A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.
Key facts
- Prevalence
- >1 / 1000 (Specific population)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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%
43- Abnormal bone ossification
- Abnormal cardiac septum morphology
- Abnormal diaphysis morphology
- Abnormal distal phalanx morphology of finger
- Abnormal form of the vertebral bodies
- Abnormality of epiphysis morphology
- Abnormality of retinal pigmentation
- Abnormality of the pancreas
- Abnormally ossified vertebrae
- Abnormal metaphysis morphology
- Biconvex vertebral bodies
- Blue sclerae
- Bowing of the long bones
- Cardiomyopathy
- Convex nasal ridge
- Decreased total neutrophil count
- Diaphyseal thickening
- Disproportionate short-limb short stature
- EEG abnormality
- Failure to thrive
- High hypermetropia
- Hyperlordosis
- Hypocalcemia
- Hypotonia
- Large face
- Limited elbow extension
- Mesomelia
- Metaphyseal chondrodysplasia
- Metaphyseal dysplasia
- Micromelia
- Respiratory insufficiency
- Rhizomelia
- Scoliosis
- Short neck
- Short palm
- Skeletal dysplasia
- Sparse eyebrow
- Sparse hair
- Spinal dysraphism
- Strabismus
- Tibial bowing
- Tracheal stenosis
- Visual impairment
Common30–79%
12These 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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