Alopecia contractures dwarfism mental retardation




Alopecia contractures dwarfism mental retardation is a developmental disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and nearsightedness are also typical. It is also characterized primarily by mental retardation, short stature, lack of hair and contractures.

The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or possibly a dominant mutation caused by mosaicism as causes of this syndrome.


  • Severe growth retardation
  • Bone fusions
  • Small head
  • Mental retardation
  • Dislocated hips
  • Alopecia
  • Cognitive impairment
  • Hypohidrosis
  • Intrauterine growth retardation
  • Kyphosis
  • Limitation of joint mobility
  • Short stature
  • Short digits
  • Ichthyosis
  • Lack of sweating
  • Lack of tears
  • Retarded fetal growth
  • Multiple joint contractures
  • Thoracic kyphoscoliosis
  • Shortened middle bone of fingers
  • Mild webbing of fingers
  • Alopecia
  • Sparse hair


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  • NIH