Disease Profile

Intellectual disability-developmental delay-contractures 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

G71.8

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)

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

Intellectual disabilitydevelopmental delaycontractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue.[1] Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms.[2] There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.[1]

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
Congenital foot contractures
0005745
Distal amyotrophy
Distal muscle wasting
0003693
Global developmental delay
0001263
Intellectual disability, mild
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
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Strabismus
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
Dystonia
0001332
Exotropia
Outward facing eye ball
0000577
Facial palsy
Bell's palsy
0010628
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Generalized hypotonia
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
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
Seizure
0001250
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature

[ more ]

0004322
Smooth philtrum
0000319
Spasticity
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
X-linked recessive inheritance
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

  1. Annick Toutain. Wieacker Syndrome. NORD. 2015; https://rarediseases.org/rare-diseases/wieacker-syndrome/.
  2. Intellectual disability-developmental delay-contractures syndrome. orpha.net. January 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454.
  3. Wieacker-Wolff Syndrome; WRWF. OMIM. 6/13/2013; https://www.omim.org/entry/314580.