Rare Endocrinology News
Disease Profile
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
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.
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Age of onset
Infancy
ICD-10
Q77.7
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)
SED-BDS; Fantasy Island syndrome; Tattoo dysplasia
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 163654
Symptoms
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal metatarsal morphology |
Abnormality of the long bone of foot
|
0001832 |
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of the chin | 0000306 | |
Abnormality of the voice |
Voice abnormality
|
0001608 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Short fingers or toes
|
0001156 | |
Broad long bones |
Wide long bones
Widened long bones
[ more ] |
0005622 |
Broad neck |
Increased width of neck
Wide neck
[ more ] |
0000475 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Cuboid-shaped vertebral bodies | 0004634 | |
Curly eyelashes | 0007665 | |
Curly hair | 0002212 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Enlarged thorax |
Wide rib cage
|
0100625 |
Facial hirsutism | 0009937 | |
Hypoplastic pelvis | 0008839 | |
Limited pronation/supination of forearm | 0006394 | |
Long philtrum | 0000343 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Multiple rows of eyelashes |
Extra rows of eyelashes
|
0008496 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Narrow philtrum | 0011829 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Rhizo-meso-acromelic limb shortening | 0005069 | |
Short long bone |
Long bone shortening
|
0003026 |
Short neck |
Decreased length of neck
|
0000470 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ] |
0000215 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
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 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior scalloping of vertebral bodies | 0004580 | |
0000006 | ||
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Delayed epiphyseal ossification | 0002663 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
High pitched voice | 0001620 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Hypoplastic iliac wing | 0002866 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short palm | 0004279 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Single interphalangeal crease of fifth finger | 0006216 | |
Small epiphyses |
Small end part of bone
|
0010585 |
Spondyloepiphyseal dysplasia |
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. In-Depth Information
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