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Start free with EleplanMandibuloacral dysplasia with type A lipodystrophy
ORPHA:90153Clinical subtype
Also called MADA
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000Mandibuloacral dysplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
14- Acroosteolysis of distal phalanges (feet)
- Alopecia
- Aplasia/Hypoplasia of the clavicles
- Dermal atrophy
- Large fontanelles
- Limitation of joint mobility
- Osteolysis
- Osteolytic defects of the distal phalanges of the hand
- Prematurely aged appearance
- Progeroid facial appearance
- Short distal phalanx of finger
- Short stature
- Thin skin
- Wormian bones
Sometimes5–29%
12- Abnormality of the dentition
- Abnormality of the musculature
- Absent eyelashes
- Arthralgia
- Breast aplasia
- Cataract
- Flexion contracture
- Hearing impairment
and 4 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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