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Disease Profile
Intellectual disability-developmental delay-contractures 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
G71.8
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)
Contractures of feet, muscle atrophy, and oculomotor apraxia; Apraxia, oculomotor, with congenital contractures and muscle atrophy; Wieacker Wolff syndrome;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
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 | ||
Abnormality of movement |
Movement disorder
Unusual movement
[ more ] |
0100022 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
0005745 | ||
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Global |
0001263 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Oculomotor apraxia | 0000657 | |
5%-29% of people have these symptoms | ||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Apnea | 0002104 | |
Areflexia |
Absent tendon reflexes
|
0001284 |
Arthrogryposis multiplex congenita | 0002804 | |
Broad alveolar ridges | 0000187 | |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Congenital onset |
Symptoms present at birth
|
0003577 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Delayed myelination | 0012448 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Drooling |
Dribbling
|
0002307 |
0001332 | ||
Exotropia |
Outward facing eye ball
|
0000577 |
Facial palsy |
Bell's palsy
|
0010628 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High anterior hairline |
High frontal hairline
|
0009890 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Palmar hyperkeratosis | 0010765 | |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
0001250 | ||
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Smooth philtrum | 0000319 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ] |
0010806 |
0001419 |
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 Intellectual disability-developmental delay-contractures syndrome. Click on the link to view a sample search on this topic.
References
- Annick Toutain. Wieacker Syndrome. NORD. 2015; https://rarediseases.org/rare-diseases/wieacker-syndrome/.
- Intellectual disability-developmental delay-contractures syndrome. orpha.net. January 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454.
- Wieacker-Wolff Syndrome; WRWF. OMIM. 6/13/2013; https://www.omim.org/entry/314580.
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