Scott Bryant Graham syndrome
Alternate names
Craniodigital syndrome-intellectual disability syndrome; Scott craniodigital syndrome; Scott-Bryant-Graham syndrome; Craniodigital-intellectual disability syndrome
Definition
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Epidemiology
Less than 10 cases have been described in the literature so far.
Inheritance
Transmission appears to be autosomal or X-linked recessive.
Signs and symptoms
Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormal dermatoglyphics(Abnormal fingerprints)
- Abnormal hair pattern(Abnormal distribution of hair)
- Brachycephaly(Short and broad skull)
- Finger syndactyly
- Generalized hirsutism(Excessive hairiness over body)
- Intellectual disability(Mental deficiency)
- Long eyelashes(Increased length of eyelashes)
- Micrognathia(Little lower jaw)
- Narrow nasal bridge(Narrow bridge of nose)
- Short nose(Decreased length of nose)
- Short stature(Decreased body height)
- Thick eyebrow(Bushy eyebrows)
- Thick hair(Increased hair density)
5%-29% of people have these symptoms
- Spina bifida occulta
Diagnosis
Treatment
NIH genetic and rare disease info
Scott Bryant Graham syndrome is a rare disease.
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Resources
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