Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with a TP63-Related Disorder]. - GeneReviews®

System/Concern	Evaluation	Comment
Ocular issues	Ophthalmologic eval	Evaluate for ankyloblepharon, lacrimal duct atresia/obstruction, dry eyes, & blepharitis.
Skin, hair, & nail issues	Dermatologic eval
Dental anomalies	Dental & prosthodontics evals	Assess for need for implants.
Cleft lip/palate	Eval by multispecialty cleft team
Hearing loss	Otolaryngologic eval & auditory evoked responses
Breast/nipple asymmetry	Plastic surgery eval
Growth delay	Nutritional eval	Further assessment by gastroenterologist may be needed.
Developmental delay	Developmental assessment
Limb malformations	OT/PT evals Hand surgery eval
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of a TP63-related disorder to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Impact of phenotype on normal life & need for counseling.

System/Concern

Evaluation

Comment

Ocular issues

Ophthalmologic eval

Evaluate for ankyloblepharon, lacrimal duct atresia/obstruction, dry eyes, & blepharitis.

Skin, hair, & nail
issues

Dermatologic eval

Dental anomalies

Dental & prosthodontics evals

Assess for need for implants.

Cleft lip/palate

Eval by multispecialty cleft team

Hearing loss

Otolaryngologic eval & auditory evoked responses

Breast/nipple
asymmetry

Plastic surgery eval

Growth delay

Nutritional eval

Further assessment by gastroenterologist may be needed.

Developmental
delay

Developmental assessment

Limb
malformations

OT/PT evals
Hand surgery eval

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of a TP63-related disorder to facilitate medical & personal decision making

Family support/
resources

Assess:

Use of community or online resources such as Parent to Parent;
Need for social work involvement for parental support;
Impact of phenotype on normal life & need for counseling.

From: TP63-Related Disorders

GeneReviews^® [Internet].

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

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