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Disease Profile
Nicolaides-Baraitser 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
Infancy
ICD-10
-
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)
NCBRS; Intellectual disability-sparse hair-brachydactyly syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Nicolaides-Baraitser
Symptoms
All people with NCBRS have intellectual disability. In most cases it is severe, but in some cases it may be moderate or mild. Language is particularly limited, with at least 30% of affected people never developing speech. Major motor milestones such as sitting and walking are usually not very delayed. People with NCBRS are often happy and friendly, but may have temper tantrums or periods of aggression. Some people have some symptoms of autism spectrum disorder.
Facial characteristics are usually not recognized in younger affected people. They may include a triangular-shaped face; prominent eyelashes; a nose with a broad base, thick nostrils, and upturned tip; a broad philtrum; and wide mouth. The palpebral fissures (width of the eyes) are sometimes narrow and/or downslanting. As people with NCBRS age, the amount of subcutaneous fat
Sparse scalp hair is a major feature of NCBRS and is present in almost all affected people. It often gradually worsens with age, but in some people it improves over time. Skin is usually wrinkled and more noticeable in the distal limbs. Teeth may be widely spaced, and eruption of teeth (baby or adult) may be delayed. While the hands and feet usually appear normal at birth, the interphalangeal joints become prominent in the majority of affected people. Bone age can vary, and
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.