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Disease Profile
Achondrogenesis
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.
Unknown
Age of onset
Neonatal
ICD-10
Q77.0
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
Categories
Congenital and Genetic Diseases
Summary
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs.[1][2] There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis is usually diagnosed during pregnancy by
Symptoms
All three types of achondrogenesis have similar features, and it can be difficult to tell the types apart based only on signs and symptoms. In general, infants with type 1A are more likely to have rib fractures, infants with type 1B may have short fingers and toes, and infants with type 2 have very soft hip bones and spinal column.[4]
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal enchondral ossification | 0003336 | |
Abnormality of bone mineral density | 0004348 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ] |
0006703 |
Flat face |
Flat facial shape
|
0012368 |
Frontal bossing | 0002007 | |
Long philtrum | 0000343 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Skeletal dysplasia | 0002652 | |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
30%-79% of people have these symptoms | ||
Inguinal hernia | 0000023 | |
Umbilical hernia | 0001537 | |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Cystic hygroma | 0000476 | |
Percent of people who have these symptoms is not available through HPO | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Abnormal foot bone ossification | 0010675 | |
Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
Abnormal hand bone ossification | 0010660 | |
Abnormality of the femoral metaphysis | 0006489 | |
Absent or minimally ossified vertebral bodies | 0004599 | |
Absent vertebral body mineralization | 0004605 | |
0000006 | ||
0000007 | ||
Barrel-shaped chest |
Barrel chest
|
0001552 |
Beaded ribs | 0000923 | |
Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
Broad clavicles |
Broad collarbone
|
0000916 |
Broad long bones |
Wide long bones
Widened long bones
[ more ] |
0005622 |
Cleft roof of mouth
|
0000175 | |
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
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 |
Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
Disproportionate short-trunk short stature |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Horizontal ribs | 0000888 | |
Hydrops fetalis | 0001789 | |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplastic ilia | 0000946 | |
Hypoplastic iliac wing | 0002866 | |
Hypoplastic ischia | 0003175 | |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Neonatal short-limb short stature |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ] |
0008921 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short clavicles |
Short collarbone
|
0000894 |
Short long bone |
Long bone shortening
|
0003026 |
Short ribs | 0000773 | |
Short tubular bones of the hand | 0001248 | |
Stillbirth |
Stillborn
|
0003826 |
Unossified vertebral bodies |
CauseChanges (
Diagnosis Achondrogenesis can be diagnosed during pregnancy by
Testing Resources
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Providing General Support
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. Where to Start
In-Depth Information
References
Rare Infectious Disease News |