Rare Cardiology News
Advertisement
Disease Profile
Atelosteogenesis type 2
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
Q77.5
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)
AOII; AO2; Neonatal osseous dysplasia 1;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a
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 facial shape |
Unusual facial appearance
|
0001999 |
Bell-shaped thorax | 0001591 | |
Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
Short fingers or toes
|
0001156 | |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad phalanx |
Wide digital bones
|
0006009 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Dumbbell-shaped femur |
Dumbbell-shaped thighbone
|
0006375 |
Equinovarus deformity | 0008110 | |
Excessive femoral anteversion | 0012427 | |
Genu valgum |
Knock knees
|
0002857 |
Hitchhiker thumb | 0001234 | |
Laryngeal cartilage malformation | 0008752 | |
Laryngeal stenosis | 0001602 | |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Rhizomelic arm shortening | 0004991 | |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Short femur |
Short thighbone
|
0003097 |
Short lower limbs |
Short legs
|
0006385 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short neck |
Decreased length of neck
|
0000470 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short ribs | 0000773 | |
Thoracolumbar kyphoscoliosis | 0003423 | |
Tibial torsion | 0100694 | |
Tracheobronchomalacia | 0002786 | |
Ulnar deviation of the hand or of fingers of the hand | 0001193 | |
Upper limb undergrowth |
Short arms
Shortening of the arms
[ more ] |
0009824 |
5%-29% of people have these symptoms | ||
Bilateral |
Right and left cleft palate
|
0100337 |
Cervical kyphosis |
Rounded neck
|
0002947 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Facial midline hemangioma | 0004664 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplastic cervical vertebrae | 0008434 | |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ] |
0012810 |
1%-4% of people have these symptoms | ||
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Increased intervertebral space | 0030320 | |
Stillbirth |
Stillborn
|
0003826 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
0000007 | ||
Bifid humerus |
Notched long bone in upper arm
|
0003864 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Coronal cleft vertebrae | 0003417 | |
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 |
Flat acetabular roof | 0003180 | |
Horizontal sacrum | 0003440 | |