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Disease Profile
Acrodysostosis
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
Q75.4
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)
Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and
Symptoms
- Skeletal malformations:
Short stature , short and malformed bones in the hands and feet, shortening of the bones in the arms and legs, abnormal curvature of the spine (scoliosis or kyphosis), and narrowing (stenosis) of the spaces within spine - Distinctive facial features: Underdevelopment of the upper jaw (maxillary hypoplasia), underdevelopment of the nasal bone (nasal hypoplasia), a flattened or depressed nasal bridge, widely-spaced eyes (hypertelorism), low-set ears, and an extra fold of skin that may cover the inner corners of the eyes (epicanthal folds)
- Developmental delays and mild to moderate
intellectual disability - Resistance to multiple
hormones including parathyroid hormone and thyroid stimulating hormone
Additional findings may include repeated middle ear infections,
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 form of the vertebral bodies | 0003312 | |
Abnormality of the nail | 0001597 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Short fingers or toes
|
0001156 | |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
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 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
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 |
30%-79% of people have these symptoms | ||
Abnormality of female external genitalia |
Abnormal female external genitalia
|
0000055 |
Abnormality of |
0010978 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Brachycephaly |
Short and broad skull
|
0000248 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
0009830 | ||
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
5%-29% of people have these symptoms | ||
Underactive thyroid gland from birth
|
0000851 | |
0000819 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Decreased activity of gonads
|
0000135 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Mild short stature | 0003502 | |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Percent of people who have these symptoms is not available through HPO | ||
0000717 | ||
0000006 | ||
Blue irides |
Blue eyes
|
0000635 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes brachydactyly type E, pseudohypoparathyroidism 1a or pseudopseudohypoparathyroidism.
Visit the Orphanet disease page for more information.
|
Organizations
Support 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 Supporting this Disease
-
International Osteoporosis Foundation
9, rue Juste-Olivier
CH-1260 Nyon
Switzerland
Telephone: +41 22 994 0100
Fax: +41 22 994 0101
E-mail: [email protected]
Website: https://www.iofbonehealth.org/
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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
Acrodysostosis 1
Acrodysostosis 2 - 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 Acrodysostosis. Click on the link to view a sample search on this topic.
References
- Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012 Sep;44(10):749-58. Epub 2012 Jul 19; https://www.ncbi.nlm.nih.gov/pubmed/22815067. Accessed 11/1/2016.
- Prof. Agnès Linglart. Acrodysostosis. NORD. 2014; https://rarediseases.org/rare-diseases/acrodysostosis/. Accessed 11/1/2016.
- Mantovani G, Spada A, Elli FM. Pseudohypoparathyroidism and Gsa-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol. June 2016; 12(6):347-356. https://www.ncbi.nlm.nih.gov/pubmed/27109785.
- Dr Caroline SILVE. Acrodysostosis. Orphanet. August 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950. Accessed 11/1/2016.
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