Rare diseases · Sign or symptom
Ankle flexion contracture
HP:0006466
Rare diseases that can present with this22
Very common80–99%
3Common30–79%
8- Autosomal recessive distal nebulin myopathy
- Autosomal recessive spastic paraplegia type 43
- Bethlem muscular dystrophy
- Calpain-3-related limb-girdle muscular dystrophy R1
- Infantile-onset X-linked spinal muscular atrophy
- Neurogenic arthrogryposis multiplex congenita
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Sometimes5–29%
10- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Combined oxidative phosphorylation defect type 13
- Congenital fiber-type disproportion myopathy
- Intellectual disability syndrome due to a DYRK1A point mutation
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Myopathic Ehlers-Danlos syndrome
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Ankle flexion contracture
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.