Article thumbnail

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

By Rebekah S. Huber, Daniel Houlihan and Kevin Filter


Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome

Topics: Review
Publisher: Elmer Press
OAI identifier:
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles


  1. Aplastic anemia in Dubowitz syndrome.
  2. (1973). Assessment of Child Language Comprehension.
  3. Atopic eczema in monozygotic twins with Dubowitz syndrome.
  4. (1993). Bayley Scales of Infant Development. 2nd ed. San Antonio:
  5. Brief clinical report: the Dubowitz syndrome in a teenager.
  6. Chromosomal instability in two siblings with Dubowitz syndrome.
  7. (1987). Clinical Evaluation of Language Fundamentals-Revised. Examiner’s Manual.
  8. Cranial midline abnormalities in Dubowitz syndrome: MR imaging fi ndings. Eur Radiol.
  9. Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. Pediatr Neurosurg.
  10. (1990). Differential Ability Scales: Administration and Scoring Manual.
  11. (1998). Dubowitz syndrome and achalasia: two rare conditions in a child. Clin Pediatr.
  12. (1994). Dubowitz syndrome with keloidal lesions. Clin Exp Dermatol.
  13. Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
  14. (1990). Dubowitz syndrome: atopic dermatitis, low birth weight dwarfi sm and facial dysmorphism.
  15. Dubowitz syndrome: long-term follow-up of an original patient.
  16. (1990). Dubowitz syndrome: possible evidence for a clinical subtype.
  17. Dubowitz syndrome: report of a case with emphasis on the oral features.
  18. (1996). Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.
  19. Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.
  20. (1998). Epileptic seizures, EEG abnormalities, and neuronal heterotopia in the Dubowitz syndrome.
  21. (2006). Facial asymmetry, cardiovascular anomalies and adducted
  22. Familial Low Birthweight Dwarfi sm with an Unusual Facies and a Skin Eruption.
  23. Fatal aplastic anaemia in a child with features of Dubowitz syndrome.
  24. (1996). Growth hormone defi ciency in Dubowitz syndrome. Acta Paediatr Jpn; Overseas edition.
  25. (1995). Ichthyosiform eruption in a patient with Dubowitz syndrome. Pediatr Dermatol.
  26. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?
  27. (1999). Ophthalmologic fi ndings in the Dubowitz syndrome. J Pediatr Ophthalmol Strabismus.
  28. Peabody Picture Vocabulary Test-3rd Edition. Circle Pines,
  29. Studies of malformation syndromes of man XXIVB: The Dubowitz syndrome. Further observations.
  30. (1982). Test of Nonverbal Intelligence.
  31. The Dubowitz syndrome: further observations.
  32. The Dubowitz syndrome: the psychological status of ten cases at follow-up.
  33. The Dubowitz syndrome.
  34. The use of descriptive analysis to identify and manipulate schedules of reinforcement in the treatment of food refusal.
  35. (1984). Vineland Adaptive Behavior Scales. Ciricle Pines, MN: AmericanGuidance Service;
  36. Wechsler Individual Achievement Test. 2nd ed.
  37. Wechsler Intelligence Scale for Children. 4th ed.
  38. (2002). Wechsler Preschool and Primary Scale of Intelligence. 3rd ed. San Antonio; TX:
  39. (2005). What syndrome is this? Dubowitz syndrome. Pediatr Dermatol.