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Disease Profile
Alopecia-contractures-dwarfism-intellectual disability syndrome
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
Q87.8
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)
Alopecia-contractures-dwarfism intellectual disabilitysyndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases
Summary
Orpha Number: 1005
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Sparse hair | 0008070 | |
30%-79% of people have these symptoms | ||
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Abnormality of the antihelix | 0009738 | |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of the helix | 0011039 | |
Biparietal narrowing | 0004422 | |
Short fingers or toes
|
0001156 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Finger |
0006101 | |
Hyperkeratosis | 0000962 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low-set, posteriorly rotated ears | 0000368 | |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Moderate postnatal growth retardation |
Moderate growth delay in children
|
0008855 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Vertebral segmentation defect | 0003422 | |
5%-29% of people have these symptoms | ||
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Ichthyosis | 0008064 | |
0002650 | ||
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Generalized hypoplasia of dental enamel | 0006282 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Large fleshy ears | 0002265 | |
Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ] |
0008850 |
Short middle phalanx of the 5th finger |
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ] |
0004220 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thoracic kyphoscoliosis | 0005659 |
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
-
American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: [email protected]
Website: https://americanhairloss.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.
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.
- 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 Alopecia-contractures-dwarfism-intellectual disability syndrome. Click on the link to view a sample search on this topic.