Question: What are the symptoms of Nicolaides-Baraitser syndrome ?
Answer: What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people. 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. Epilepsy occurs in about 2/3 of affected people. The type of seizures that occur can vary. 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 tissue tends to decrease, making the skin below the eyes sagging and wrinkled, especially at the cheeks when smiling. However, some affected people retain full cheeks. Facial characteristics typically become more pronounced with increasing age. In some affected adults, the lower third of the face becomes markedly broad. 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 osteoporosis is not uncommon. The Human Phenotype Ontology provides the following list of signs and symptoms for Nicolaides-Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the palate 90% Anteverted nares 90% Brachydactyly syndrome 90% Cognitive impairment 90% Long philtrum 90% Microcephaly 90% Neurological speech impairment 90% Thin vermilion border 90% Triangular face 90% Wide mouth 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% Blepharophimosis 50% Clubbing of toes 50% Cryptorchidism 50% Eczema 50% Highly arched eyebrow 50% Narrow nasal bridge 50% Sandal gap 50% Scoliosis 50% Seizures 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Accelerated skeletal maturation 7.5% Delayed skeletal maturation 7.5% Hernia 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 Absent speech - Aggressive behavior - Broad philtrum - Failure to thrive - Intellectual disability, severe - Intrauterine growth retardation - Low anterior hairline - Poor speech - Prominent interphalangeal joints - Short metacarpal - Short metatarsal - Short phalanx of finger - Sparse scalp hair - Thick lower lip vermilion - Wide nasal base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Nicolaides-Baraitser syndrome ?
Answer: What causes Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. There may be some correlations between specific types of mutations and some of the features that result (called genotype-phenotype correlations), but more studies are needed to draw definitive conclusions.
Source: GARD