Multisystem developmental disorder

Other uses of the term

• 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 ; butterfly vertebrae; posterior embryotoxon and a distinctive face.
• Rubinstein-Taybi syndrome, a mental retardation syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside mental retardation.
• Williams syndrome, a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild mental retardation 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, a 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