A young girl affected by ADULT syndrome.Synonyms

Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT ) syndrome

ADULT syndrome belongs to the TP63 family of ectodermal dysplasias that also includes ectrodactyly- ectodermal dysplasia-cleting (EEC) syndrome, limb-mammary syndrome (LMS), and ankyloblepharon-ectodermal dysplasia-cleft lip and/or palate syndrome (AEC).

The clinical findings of ADULT syndrome can overlap with those of other ectodermal dysplasia syndromes and are variable in presentation. This complicates diagnosis and further characterization of these disorders.

ADULT Syndrome is a Rare Genetic Condition Characterized by


Eyes

Teeth

  • Missing teeth (hypodontia) as a result of the failure of those teeth to develop (also called tooth agenesis).
  • Small
  • Dysplastic (abnormal dentin; one of the components of teeth)
  • Premature loss of secondary teeth (<25 years)

Breasts

  • Underdeveloped breasts (breast hypoplasia)
  • Underdevelopment of the mammary glands (mammary gland hypoplasia)
  • Widely spaced nipples
  • Absent nipples
  • Small or underdeveloped (hypoplastic) nipples

Skeletal

  • Missing fingers and/or toes (ectrodactyly)
  • Fused fingers and/or toes (syndactyly)

Skin

Some people experience thin, mechanically weak skin of poor viability due to reduced systemic or local blood supply, characterized by compromised healing (atrophic skin).

  • Thin
  • Dry
  • Freckling
  • Light sensitive (photosensitive)
  • Dermatitis (eczema, is a group of diseases that result in inflammation of the skin)
  • Lacking fingerprints (adermatoglyphia)

Nails

  • Underdeveloped (dysplastic)
  • Small, round depressions on the surface of the nail plate (nail pits)

Hair

  • Blonde
  • Thin scalp hair
  • Sparse underarm (axillary) hair
  • Reported premature scalp hair loss (>30 years)

 

Diagnosing ADULT Syndrome

A physician can diagnose ADULT on the basis of physical features but best diagnosed by genetic testing.

Causes of ADULT Syndrome

ADULT is an autosomal dominant syndrome that is caused by mutation in TP63.  A parent may pass the mutant gene to a child.  The gene can also be mutated in a child without either parent having the mutant gene.

Genetic Testing

Testing is available for ADULT syndrome.

ADULT Inheritance

AEC is inherited as an autosomal dominant disorder. An affected individual has a 50% chance of passing the gene to a son or daughter.

Learn more about ADULT syndrome at Online Mendelian Inheritance in Man.