Table 8. [Treatment of Manifestations in Individuals with Severe/Lethal CCA]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Musculoskeletal	By orthopedist	Contractures may require surgical release. Clubfeet may require casting. Progressive kyphoscoliosis may require bracing &/or surgical intervention. Severe pectus excavatum may rarely cause restrictive lung disease or cardiac displacement & thus require surgical treatment (Nüss procedure).
By physiatrist, OT/PT	Early PT in children helps ↑ joint mobility & improve muscle hypoplasia (usually calf muscles). Camptodactyly & large-joint contractures may spontaneously improve over time.
Cardiovascular	By cardiologist / cardiovascular surgeon	Hypoplastic aortic arch or interrupted aortic arch, a ductus-dependent heart defect, requires intervention shortly after birth (incl prostaglandins while awaiting surgery). For septal defects, treatment is either conservative (by percutaneous closure) or surgical following standard guidelines. Aortic root dilatation is managed in a standard manner. See Marfan Syndrome & Milewicz et al [2005] (full text).
Gastrointestinal	By abdominal/ pediatric surgeon	Surgical correction of malrotation if symptomatic (vomiting) Surgical correction of esophageal or duodenal atresia
Ophthalmologic	By ophthalmologist	Correction of refractive errors Keratoconus can be treated by contact lenses. It is currently unknown if corneal crosslinking is safe &/or useful in CCA.
Respiratory	By neonatologist/ pulmonologist/ anesthesiologist	Tracheomalacia requires bronchoscopy &/or vascular imaging to determine cause & best treatment options. Aggressive treatment of pulmonary infections Respiratory physiotherapy may be necessary in case of severe hypotonia & reduced coughing. As it is unclear if pulmonary emphysema may develop, positive pressure ventilation should be kept to a minimum.

Manifestation/
Concern

Treatment

Considerations/Other

Musculoskeletal

By orthopedist

Contractures may require surgical release.
Clubfeet may require casting.
Progressive kyphoscoliosis may require bracing &/or surgical intervention.
Severe pectus excavatum may rarely cause restrictive lung disease or cardiac displacement & thus require surgical treatment (Nüss procedure).

By physiatrist,
OT/PT

Early PT in children helps ↑ joint mobility & improve muscle hypoplasia (usually calf muscles).
Camptodactyly & large-joint contractures may spontaneously improve over time.

Cardiovascular

By cardiologist /
cardiovascular surgeon

Hypoplastic aortic arch or interrupted aortic arch, a ductus-dependent heart defect, requires intervention shortly after birth (incl prostaglandins while awaiting surgery).
For septal defects, treatment is either conservative (by percutaneous closure) or surgical following standard guidelines.
Aortic root dilatation is managed in a standard manner. See Marfan Syndrome & Milewicz et al [2005] (full text).

Gastrointestinal

By abdominal/
pediatric surgeon

Surgical correction of malrotation if symptomatic (vomiting)
Surgical correction of esophageal or duodenal atresia

Ophthalmologic

By ophthalmologist

Correction of refractive errors
Keratoconus can be treated by contact lenses. It is currently unknown if corneal crosslinking is safe &/or useful in CCA.

Respiratory

By neonatologist/
pulmonologist/
anesthesiologist

Tracheomalacia requires bronchoscopy &/or vascular imaging to determine cause & best treatment options.
Aggressive treatment of pulmonary infections
Respiratory physiotherapy may be necessary in case of severe hypotonia & reduced coughing.
As it is unclear if pulmonary emphysema may develop, positive pressure ventilation should be kept to a minimum.

From: Congenital Contractural Arachnodactyly

GeneReviews^® [Internet].

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

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