Management Guidelines
No clinical practice guidelines for ESCO2 spectrum disorder have been published. In the absence of published guidelines, the following recommendations are based on the literature, the experience of clinical geneticists, and authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with ESCO2 spectrum disorder the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
ESCO2 Spectrum Disorder: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Growth restriction
| Measure height, weight, head circumference. | Assess for evidence of poor weight gain growth deficiency.
Limb malformations
| Multidisciplinary clinic assessment by orthopedist, physical medicine specialist, OT, PT | Assess:
Gross motor fine motor skills, contractures;
Need for adaptive devices to improve fine motor gross motor skills;
Possible need for surgery to improve prehensile hand grasp /or prostheses.
Cleft lip/palate
| Multidisciplinary craniofacial team assessment | Assess:
Effect of lip palatal anomalies on feeding speech development;
Need for surgical interventions.
Eye abnormalities
| Assessment by pediatric ophthalmologist | • Newborn: corneal opacities
Adolescence early adulthood: cranial nerve III cavernous angioma
Developmental delay/
Intellectual disability
| Developmental assessment | To incl:
Source: GeneReviews — "ESCO2 Spectrum Disorder"
