Disease Profile

Atelosteogenesis type 2

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

Q77.5

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)

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 cleft palate), characteristic facial features, an inwardand upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.[1]

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.

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

  • MedlinePlus Genetics contains information on Atelosteogenesis type 2. 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 2. Click on the link to view a sample search on this topic.

References

  1. Genetics Home Reference. Atelosteogenesis type 2. https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2. Accessed 12/17/2013.

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
Brachydactyly
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 cleft palate
Right and left cleft palate
0100337
Cervical kyphosis
Rounded neck
0002947
Elbow flexion contracture
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
Micrognathia
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 pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Autosomal recessive inheritance
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