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Disease Profile

Alopecia-contractures-dwarfism-intellectual disability syndrome

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

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

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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)

Alopecia-contractures-dwarfism intellectual disabilitysyndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1005

Definition
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.

Visit the Orphanet disease page for more resources.

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
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation

[ more ]

0006887
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Kyphosis
Hunched back
Round back

[ more ]

0002808
Severe short stature
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
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Finger syndactyly
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
Microcephaly
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
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
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

    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.