Rare Endocrinology News
Disease Profile
Spondylodysplastic Ehlers-Danlos syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Infancy
ICD-10
Q79.6
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Proteodermatan sulfate, defective biosynthesis of; PDS, defective biosynthesis of; Dermatan sulfate proteoglycan;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases;
Summary
Spondylodysplastic Ehlers-Danlos
Symptoms
- Progressive
short stature in childhood, which can result in short stature as an adult (less than 152cm) - Poor muscle tone (
hypotonia ), ranging from severe and present from birth, to mild and later-onset - Bowing of limbs
- Skin hyperextensibility; soft, doughy skin; thin, translucent skin
- Pes planus (flat feet)
- Delayed motor development
- Fragile bones from low bone mineral density (osteopenia)
- Mild
intellectual disabilities or learning disabilities - Eye problems
- Characteristic facial features (triangular face, wide-spaced eyes, proptosis ("bulging" eyes), narrow mouth, low-set ears, sparse scalp hair, flat face, wide forehead, blue sclerae, abnormal teeth, and
cleft palate /bifid uvula) - Thin, curly hair; sparse eyebrows and eyelashes
- Joint
contractures and hypermobility - Loose, elastic skin on the face
The former name for spondylodysplastic Ehlers-Danlos syndrome was "EDS, progeroid type." Although "progeroid" means "appearance similar to old age," affected people do not actually have premature aging and are not expected to have a shortened life span.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 |
Global |
0001263 | |
Hyperextensible skin |
Stretchable skin
Skin hyperelasticity
Hyperelastic skin
[ more ] |
0000974 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Long toe |
Increased length of toes
Long toes
[ more ] |
0010511 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Palmoplantar cutis gyrata | 0007469 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Testicular torsion | 0100813 | |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Narrow mouth |
Small mouth
|
0000160 |
Osteopenia | 0000938 | |
Skeletal dysplasia | 0002652 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Abnormality of primary teeth |
Abnormality of baby teeth
Abnormality of milk teeth
[ more ] |
0006481 |
Genu recurvatum |
Back knee
Knee hyperextension
[ more ] |
0002816 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Kyphoscoliosis | 0002751 | |
Mild global developmental delay | 0011342 | |
Phalangeal dislocation | 0006243 | |
Talipes equinovalgus | 0001772 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
1%-4% of people have these symptoms | ||
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Bifid uvula | 0000193 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
0001363 | ||
Dislocated radial head | 0003083 | |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Flat face |
Flat facial shape
|
0012368 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |