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Start free with EleplanSpondylodysplastic Ehlers-Danlos syndrome
ORPHA:536471Disease
Also called Spondylodysplastic EDS · spEDS
What it is
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Classified as
- Disease
Recorded for the broader condition
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessiveEhlers-Danlos syndrome
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.
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
Common30–79%
33- Abnormal facial shape
- Abnormality of finger
- Abnormality of the dentition
- Abnormal vertebral morphology
- Blue sclerae
- Congenital kyphoscoliosis
- Flat face
- Flexion contracture
- Frontal bossing
- Global developmental delayDiagnostic criterion
- Hip dysplasia
- Hyperextensible skinDiagnostic criterion
- Hypertelorism
- Hypoplastic ilia
- HypotoniaDiagnostic criterion
- Increased susceptibility to fractures
- Joint dislocation
- Joint hypermobility
- Low-set ears
- Multiple joint contractures
- OsteopeniaDiagnostic criterion
- Pes planusDiagnostic criterion
- Platyspondyly
- Posteriorly rotated ears
- Proptosis
- Scoliosis
- Short statureDiagnostic criterion
- Slender long bones with narrow diaphyses
- Soft, doughy skinDiagnostic criterion
- Soft skinDiagnostic criterion
- Talipes equinovarus
- Thin skinDiagnostic criterion
- Triangular face
Sometimes5–29%
36- Abnormal heart valve morphology
- Abnormality of the elbow
- Abnormality of the femoral head
- Anteverted nares
- Atrophic scars
- Beaking of vertebral bodies
- Bowing of the long bonesDiagnostic criterion
- Broad forehead
and 28 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.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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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