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Disease Profile

Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

SED-BDS; Fantasy Island syndrome; Tattoo dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 163654

Definition
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

Visit the Orphanet disease page for more resources.

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
Brachydactyly
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
Autosomal dominant inheritance
0000006
Carpal bone hypoplasia
Small carpal bones
Small carpals

[ more ]

0001498
Coarse facial features
Coarse facial appearance
0000280
Delayed epiphyseal ossification
0002663
Flexion contracture
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 more

These 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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. Click on the link to view a sample search on this topic.

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