The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal hair quantity||90%|
|Abnormal joint morphology||90%|
|Abnormality of the palate||90%|
|Everted lower lip vermilion||90%|
|Neurological speech impairment||90%|
|Thin vermilion border||90%|
|Abnormality of the distal phalanx of finger||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the metacarpal bones||50%|
|Abnormality of the nipple||50%|
|Clubbing of toes||50%|
|Highly arched eyebrow||50%|
|Narrow nasal bridge||50%|
|Abnormality of epiphysis morphology||7.5%|
|Accelerated skeletal maturation||7.5%|
|Delayed skeletal maturation||7.5%|
|Short stature||13 of 23|
|Narrow nasal bridge||12 of 22|
|Widely spaced teeth||11 of 21|
|Scoliosis||9 of 22|
|Unilateral narrow palpebral fissure||9 of 22|
|Eczema||8 of 23|
|Failure to thrive||-|
|Intellectual disability, severe||-|
|Intrauterine growth retardation||-|
|Low anterior hairline||-|
|Prominent interphalangeal joints||-|
|Short phalanx of finger||-|
|Sparse scalp hair||-|
|Thick lower lip vermilion||-|
|Wide nasal base||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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What is the life expectancy of a child born with Nicolaides-Baraitser syndrome? See answer
Our son was diagnosed with Nicolaides-Baraitser syndrome by targeted exome sequencing. We are interested in all and any further resources and/or information you can provide us, as we are being told that he is only the 45th individual to ever be diagnosed and that only one other individual has the "identical variant" that they found on his sequencing. See answer