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Disease Profile
Atelosteogenesis type 1
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
Neonatal
ICD-10
Q78.8
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)
AOI; Giant cell chondrodysplasia; Spondylohumerofemoral hypoplasia
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 1190
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 ossification involving the femoral head and neck | 0009107 | |
Abnormality of fibula morphology |
Abnormality of the calf bone
|
0002991 |
Absent or minimally ossified vertebral bodies | 0004599 | |
Short fingers or toes
|
0001156 | |
Coronal cleft vertebrae | 0003417 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Short femur |
Short thighbone
|
0003097 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
5%-29% of people have these symptoms | ||
Abnormal pancreatic duct morphology | 0030992 | |
Cleft roof of mouth
|
0000175 | |
Enlarged cisterna magna | 0002280 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Laryngotracheal stenosis | 0004894 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malrotation of colon | 0004785 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Neonatal short-trunk |
0008857 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Retinal dysplasia | 0007973 | |
0002650 | ||
Telecanthus |
Corners of eye widely separated
|
0000506 |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
Aplasia/Hypoplasia of the ulna |
Absence/underdevelopment of inner forearm bone
|
0006495 |
0000006 | ||
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Club-shaped proximal femur |
Club-shaped innermost end of thighbone
|
0006406 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
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 |
Distal tapering femur |
Tapering of outermost end of thighbone
|
0006408 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Encephalocele | 0002084 | |
Fibular aplasia |
Absent calf bone
|
0002990 |
Frontal bossing | 0002007 | |
Fused cervical vertebrae |
Fused neck
|
0002949 |
Laryngeal stenosis | 0001602 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Multinucleated giant chondrocytes in epiphyseal cartilage | 0030330 | |
Neonatal death |
Neonatal lethal
|
0003811 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Sporadic |
No previous family history
|
0003745 |
Stillbirth |
Stillborn
|
0003826 |
Thoracic platyspondyly | 0004592 | |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ] |
0002982 |
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Atelosteogenesis type 1. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Atelosteogenesis type 1. Click on the link to view a sample search on this topic.