Multisystem developmental disorder

Other uses of the term

The term multisystem developmental disorder has also been used to describe various developmental disorders. These include:

• Alagille syndrome, an autosomal dominant disorder with a wide range of features and manifestations. Its five most significant features are chronic cholestasis, a condition where bile cannot flow from the liver to the duodenum, occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin).
• Rubinstein-Taybi syndrome, a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability.
• Williams syndrome, a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild intellectual disability but have grammatical and lexical abilities above what would be expected from their IQs. They are hypersocial and empathetic, but social isolation is commonly experienced.
• Proteus syndrome, a congenital disorder causing disproportionate growth of skin, bone, and other tissues.
• Asphyxiating thoracic dysplasia, an autosomal recessive skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births.

Symptoms

• Toe walking
• Pragmatic speech problems
• Clumsiness
• Obsessions and rituals
• Sensory issues
• Disinterest in social interaction
• Autistic characteristics

References

References

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4. (2011). "Alagille syndrome: Pathogenesis, diagnosis and management". European Journal of Human Genetics.
5. (1996). "Rubinstein-Taybi syndrome with multiple flamboyant keloids". Cutis; Cutaneous Medicine for the Practitioner.
6. "Rubinstein-Taybi syndrome: MedlinePlus Genetics".
7. (1987). "Rubinstein-Taybi syndrome". Urology.
8. (2008). "A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome". Clinical Genetics.
9. (2006). "Echocardiographic findings in patients with Williams-Beuren syndrome". Wiener Klinische Wochenschrift.
10. (1994). "Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function". Taylor & Francis.
11. (2006-02-13). "Williams-Beuren Syndrome: Research, Evaluation, and Treatment". JHU Press.
12. (2012). "Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder". British Journal of Radiology.
13. (2011). "Assessment and management of the orthopedic and other complications of Proteus syndrome". [[Journal of Children's Orthopaedics]].
14. (2003). "A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13". Journal of Medical Genetics.
15. (1999-08-01). "Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome)". Journal of Ultrasound in Medicine.
16. Woliver, Robbie. (2009). "Alphabet Kids". Jessica Kingsley Publishers.