Intellectual disability athetosis microphthalmia

Rare Infectious Disease News

3482

Rare Infectious Disease News

Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

-

Inheritance

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.

X-linked
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)

Bd syndrome; Intellectual disability-athetosis-microphthalmia syndrome; Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Summary

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

Orpha Number: 1236

Definition

Severe microbrachycephalyintellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.

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
Abnormality of movement	Movement disorder Unusual movement [ more ]	0100022
Bilateral single transverse palmar creases		0007598
Brachycephaly	Short and broad skull	0000248
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Dimple chin	Chin butt Chin dent Chin dimple Chin skin dimple Indentation of chin [ more ]	0010751
Facial cleft	Cleft of the face	0002006
Frontal bossing		0002007
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertonia		0001276
Hypodontia	Failure of development of between one and six teeth	0000668
Hypoplasia of the ear cartilage	Underdeveloped ear cartilage	0100720
Large earlobe	Fleshy earlobe Fleshy earlobes Prominent ear lobes prominent ear lobules [ more ]	0009748
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Scoliosis		0002650
Supernumerary nipple	Accessory nipple	0002558
Telecanthus	Corners of eye widely separated	0000506
30%-79% of people have these symptoms
Abnormal palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormal thorax morphology	Abnormality of the chest	0000765
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Camptodactyly of finger	Permanent flexion of the finger	0100490
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Iris coloboma	Cat eye	0000612
Lip pit		0100267
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
Microphthalmia	Abnormally small eyeball	0000568
Preauricular skin tag		0000384
Seizure		0001250
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182

Do you have updated information on this disease? We want to hear from you.

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

Cerebral Palsy Foundation
3 Columbus Circle
15th Floor
New York, NY 10019
Telephone: 212-520-1686
E-mail: info@yourcpf.org
Website: https://yourcpf.org/
Pedal with Pete [For Research on Cerebral Palsy]
P.O. Box 1233
Worthington, OH 43085
Telephone: +1-614-527-0202
E-mail: pwp@pedal-with-pete.org
Website: https://pedal-with-pete.org/
Reaching for the Stars, Inc (RFTS, Inc)
3000 Old Alabama Road
Suite 119 – 300
Alpharetta, GA 30022
Toll-free: (855) 240-RFTS (7387)
E-mail: info@reachingforthestars.org
Website: https://reachingforthestars.org/
United Cerebral Palsy (UCP)
1825 K Street, NW
Suite 600
Washington, DC 20006
Toll-free: 1-800-USA-5UCP (872-5827)
Telephone: +1-202-776-0406
Fax: +1-202-776-0414
E-mail: info@ucp.org
Website: https://www.ucp.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

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Rare Infectious Disease News

Rare Infectious Disease News

Neonatal

-

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.

X-linked
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)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

Rare Infectious Disease News

Rare Infectious Disease News

Neonatal

-

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.

X-linked 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)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.