Table 6. [Treatment of Manifestations in Individuals with Cranioectodermal Dysplasia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Craniosynostosis	Surgical treatment usually in 1st yr of life
Polydactyly	Surgical correction is optional.
Hip dysplasia	Orthopedic care as required
Short stature	Growth hormone treatment when standard criteria for this treatment are met	Only for those children w/severe growth deficiency in whom therapy is expected to be successful.
Dental anomalies	Standard treatment per dentist &/or oral surgeon	Timely intervention of structural tooth abnormalities &/or oligodontia may limit aesthetic, functional, & psychological issues.
Nephronophthisis	Treatment per nephrologist	Renal transplantation is an option in advanced stages.
Hepatic fibrosis	Treatment per hepatologist	Liver transplantation is treatment option in advanced stages.
Progressive visual impairment	Low-vision aids per ophthalmologist & appropriate educational programs
Pulmonary hypoplasia	Mechanical ventilation may be required in affected newborns.
Respiratory infections	Chest radiograph & sputum analysis if pneumonia suspected Antibiotics as indicated	Those susceptible to recurrent respiratory infections should be treated w/long-term prophylaxis.
Cardiac malformations	Treatment per cardiologist
Developmental delay	Speech therapy & PT Early intervention &/or IEP as needed
Inguinal/umbilical hernias	Surgical intervention

Manifestation/Concern

Treatment

Considerations/Other

Craniosynostosis

Surgical treatment usually in 1st yr of life

Polydactyly

Surgical correction is optional.

Hip dysplasia

Orthopedic care as required

Short stature

Growth hormone treatment when standard criteria for this treatment are met

Only for those children w/severe growth deficiency in whom therapy is expected to be successful.

Dental anomalies

Standard treatment per dentist &/or oral surgeon

Timely intervention of structural tooth abnormalities &/or oligodontia may limit aesthetic, functional, & psychological issues.

Nephronophthisis

Treatment per nephrologist

Renal transplantation is an option in advanced stages.

Hepatic fibrosis

Treatment per hepatologist

Liver transplantation is treatment option in advanced stages.

Progressive visual impairment

Low-vision aids per ophthalmologist & appropriate educational programs

Pulmonary hypoplasia

Mechanical ventilation may be required in affected newborns.

Respiratory infections

Chest radiograph & sputum analysis if pneumonia suspected
Antibiotics as indicated

Those susceptible to recurrent respiratory infections should be treated w/long-term prophylaxis.

Cardiac malformations

Treatment per cardiologist

Developmental delay

Speech therapy & PT
Early intervention &/or IEP as needed

Inguinal/umbilical hernias

Surgical intervention

From: Cranioectodermal Dysplasia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.