Edit concept Question Editor Create issue ticket

Scott Bryant Graham Syndrome

Craniodigital Syndrome Mental Retardation Scott Type


Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • It is congenital in nature and the presentations are manifested at birth Defective mutations of certain genes are responsible for the disorder.[dovemed.com]
  • The numbered bands specify the location of the thousands of genes that are present on each chromosome.[rarediseases.org]
Short Stature
  • stature Causes - Scott Bryant Graham syndrome Not supplied.[checkorphan.org]
  • ] 0000527 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Narrow nasal bridge Narrow bridge of nose Nasal Bridge, Narrow Nasal bridge, thin [ more ] 0000446 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short[rarediseases.info.nih.gov]
Dysmorphic Face
  • Zerres et al. (1992) described a 2-year-old boy with mental retardation, postnatal short stature, postnatal microcephaly, a small atrial septal defect, dysmorphic face, syndactyly 2/5 of the hands and 1/4 of the feet, and brachymesophalangy of fingers[omim.org]
  • face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature[wikidoc.org]
Malnutrition
  • Jobs continued these practices, against medical advice, during the last eight years of his life and it’s likely that malnutrition complicated the struggle with his malignancy.[celebritydiagnosis.com]
Hirsutism
  • Showing of 14 80%-99% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 Abnormal hair pattern Abnormal distribution of hair 0010720 Brachycephaly Short and broad skull 0000248 Finger syndactyly 0006101 Generalized hirsutism[rarediseases.info.nih.gov]
  • Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips, small and widely spaced teeth, and generalized hirsutism.[omim.org]
Abnormal Dermatoglyphic Pattern
  • Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Genetic counseling Transmission appears to be autosomal or X-linked recessive.[orpha.net]
  • Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Genetic counseling Transmission appears to be autosomal or X-linked recessive .[rarediseases.info.nih.gov]
Abnormal Dermatoglyphic Pattern
  • Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Genetic counseling Transmission appears to be autosomal or X-linked recessive.[orpha.net]
  • Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Genetic counseling Transmission appears to be autosomal or X-linked recessive .[rarediseases.info.nih.gov]
Hirsutism
  • Showing of 14 80%-99% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 Abnormal hair pattern Abnormal distribution of hair 0010720 Brachycephaly Short and broad skull 0000248 Finger syndactyly 0006101 Generalized hirsutism[rarediseases.info.nih.gov]
  • Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips, small and widely spaced teeth, and generalized hirsutism.[omim.org]
Hypertrichosis
  • Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features 0 *Hypertrichosis *Intellectual Disability *Facies. Mirhosseini- Holmes- Walton syndrome 0 *Intellectual Disability *Microcephaly *Retinitis Pigmentosa.[reference.md]
Skeletal Dysplasia
  • dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome with thrombocytopenia Sketetal dysplasia coarse facies mental retardation[wikidoc.org]
  • dysplasia h Page 263 and 264: monochromatic type Ubiquinone Oxydo[yumpu.com]
Skeletal Dysplasia
  • dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome with thrombocytopenia Sketetal dysplasia coarse facies mental retardation[wikidoc.org]
  • dysplasia h Page 263 and 264: monochromatic type Ubiquinone Oxydo[yumpu.com]
Startled Facial Expression
  • ' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.EpidemiologyLess than 10 cases have been described in the literature so far.Clinical descriptionAbnormal dermatoglyphic patterns[malacards.org]
  • ' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.[orpha.net]
  • Orpha Number: 1514 Disease 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[rarediseases.info.nih.gov]
Startled Facial Expression
  • ' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.EpidemiologyLess than 10 cases have been described in the literature so far.Clinical descriptionAbnormal dermatoglyphic patterns[malacards.org]
  • ' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.[orpha.net]
  • Orpha Number: 1514 Disease 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[rarediseases.info.nih.gov]
Shortened Nose
  • nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick hair Increased hair density 0100874 5%-29% of[rarediseases.info.nih.gov]
Narrow Nose
  • Symptoms - Scott Bryant Graham syndrome * Mental retardation * Skull anomalies * Finger anomalies * Toe anomalies * Webbed 2nd and 3rd toes * Delayed somatic deveolpment * Short head * Small nose * Narrow nose * Thick scalp hair * Low hairline around[checkorphan.org]
  • From birth the facies were abnormal with brachycephaly, small and narrow nose, 'startled' appearance, thick head hair with extension of the hair unusually far on the temples and sideburn areas, long eyelashes, thick eyebrows, and somewhat short mandible[omim.org]
Hypertelorism
  • Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips, small and widely spaced teeth, and generalized hirsutism.[omim.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Scott Bryant Graham syndrome Not supplied. Resources - Scott Bryant Graham syndrome Not supplied.[checkorphan.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Diagnosis - Scott Bryant Graham syndrome * Concentration -- Home Testing * ADHD -- Home Testing * Mental Health: Home Testing: * Home Emotional Stress Tests Prognosis - Scott Bryant Graham syndrome Not supplied.[checkorphan.org]
  • […] outcome is generally positive with early management of the condition Please find comprehensive information on Filippi Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Nobody knows what her prognosis is - including medical professionals.[dailymail.co.uk]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability.[reference.md]

Epidemiology

  • ORPHA:1514 Synonym(s): Scott craniodigital syndrome Scott-Bryant-Graham syndrome Prevalence: Inheritance: Autosomal recessive or X-linked recessive Age of onset: Neonatal ICD-10: Q87.0 OMIM: 312860 UMLS: C1839311 MeSH: - GARD: 4776 MedDRA: - Summary Epidemiology[orpha.net]
  • Epidemiology Less than 10 cases have been described in the literature so far. Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Prevention

  • Prevention - Scott Bryant Graham syndrome Not supplied.[checkorphan.org]
  • Cancer Foundation Prevention Institute Public Health Institute Pulmonary Hypertension Association Robert Wood Johnson Foundation Sara Collins, The Commonwealth Fund Sarcoma Foundation of America Susan G.[nytimes.com]
  • The outcome is generally positive with early management of the condition Please find comprehensive information on Filippi Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]
  • Furthermore, he suggests that “separating the material in the rhetorical prevents rhetorical critics from considering the interanimation of the two and, more specifically, how the relationship with specific material elements influences rhetorical practice[sscottgraham.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!