Format

Send to

Choose Destination

TP63-Related Disorders.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2010 Jun 8 [updated 2015 Aug 6].

Author information

1
Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children’s Hospital, Houston, Texas
2
Professor, Molecular Neurogenetics, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

Excerpt

CLINICAL CHARACTERISTICS:

The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring and alopecia, hypospadias, trismus, and excessive freckling.

DIAGNOSIS/TESTING:

The diagnosis is based on clinical findings and molecular genetic testing of TP63.

MANAGEMENT:

Treatment of manifestations: A multidisciplinary team of specialists in clinical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended. Wigs can be used for sparse hair and alopecia; dentures may be considered in early childhood and dental implants in the teens or early adulthood. Skin erosions are treated with gentle wound care and periodic, dilute bleach soaks to prevent secondary infection. Cleft lip/palate is managed as per routine protocols with attention to feeding in infancy, recurrent otitis media, and speech therapy. Prevention of secondary complications: Infants with severe skin erosions need aggressive monitoring/treatment of dehydration, electrolyte imbalances, malnutrition, and secondary infection and sepsis. Surveillance: Regular evaluation with a multidisciplinary team with attention to dental needs and possible hearing loss.

GENETIC COUNSELING:

The TP63-related disorders are inherited in an autosomal dominant manner. Approximately 30% of individuals have an affected parent and approximately 70% have a de novo pathogenic variant. Each child of an individual with a TP63-related disorder has a 50% chance of inheriting the pathogenic variant. Prenatal diagnosis for pregnancies at increased risk is possible if the TP63 pathogenic variant in the family is known.

Copyright © 1993-2019, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Supplemental Content

Support Center