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Start free with EleplanFreeman-Sheldon syndrome
ORPHA:2053Malformation syndrome
Also called Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy · Distal arthrogryposis type 2A · Freeman-Burian syndrome · Whistling face syndrome
What it is
A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, 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%
16- Abnormality of the dentition
- Camptodactyly of finger
- Chin dimple
- Depressed nasal ridge
- Downslanted palpebral fissures
- Failure to thrive
- Feeding difficulties in infancy
- Growth delay
- Hypertelorism
- Joint stiffness
- Narrow mouth
- Scoliosis
- Talipes equinovarus
- Ulnar deviation of finger
- Underdeveloped nasal alae
- Wide nasal bridge
Common30–79%
11These 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.
Genes
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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