How is ADULT syndrome inherited?

ADULT syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is ADULT syndrome?

ADULT syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is ADULT syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for ADULT syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from ADULT syndrome?

ADULT syndrome can lead to various complications due to its unique symptoms. For example, limb differences like ectrodactyly and syndactyly may affect mobility and hand function. Additionally, dental issues such as hypodontia can lead to problems with eating and self-esteem.

How does ADULT syndrome affect daily life activities?

Living with ADULT syndrome can impact daily activities in several ways. People may need to adapt to challenges with their hands due to limb differences, which can affect tasks like writing or using tools. Dental abnormalities may also require special care, making eating and speaking more difficult.

What should families consider when planning for children if one parent has ADULT syndrome?

If one parent has ADULT syndrome, it's important for families to discuss the potential for passing the condition to their children. Since ADULT syndrome is genetic, consulting with a genetic counselor can help families understand the risks and make informed decisions about family planning.

What specialists should be involved in the care of someone with ADULT syndrome?

Individuals with ADULT syndrome may benefit from a team of specialists for comprehensive care. This can include dermatologists for skin issues, dentists for dental abnormalities, and orthopedic specialists for limb differences. Coordinating care among these professionals can help manage the various aspects of the condition.

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ADULT syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ADULT syndrome

MONDO:0007072

Also known as:acro-dermato-ungual-lacrimal-tooth syndromeacrodermatounguallacrimaltooth syndromepigment anomaly-ectrodactyly-hypodontia syndrome

Overview

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

GeneticsAutosomal dominant · TP63 (chr 3)

ResearchLimited published research (6 articles)

Clinical Presentation

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:103285

Orphanet

European rare disease database

Orphanet:978

GARD

Genetic and Rare Diseases Info Center

GARD:384

Questions for Your Care Team

→Should I pursue genetic testing for TP63, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about ADULT syndrome

ADULT syndrome is a rare genetic condition that affects the skin, nails, teeth, and other parts of the body. It is classified as an ectodermal dysplasia syndrome and is known for its unique combination of physical findings such as cutaneous freckling, dental abnormalities (hypodontia), and lacrimal duct anomalies. People with ADULT syndrome may also experience limb differences like ectrodactyly (missing or split fingers or toes) and syndactyly (fusion of digits), as well as underdeveloped breasts (mammary hypoplasia), thin hair (hypotrichosis), and nail irregularities (onychodysplasia). These characteristics help in recognizing the condition as described in trusted sources.

Common signs of ADULT syndrome include ectrodactyly, syndactyly, and distinctive skin findings such as excessive freckling. Other symptoms include mammary hypoplasia, hypodontia (fewer teeth than usual), anomalies in the lacrimal ducts, hypotrichosis (sparse hair), and onychodysplasia (abnormal nail development).

ADULT syndrome is related to changes in the TP63 gene. This gene plays an important role in the development of various tissues, and disturbances can lead to the features seen in this condition. Detailed information about risk factors beyond this genetic link is limited. Associated genes include TP63.

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Features include very common findings: Toe syndactyly, Dry skin, Nasolacrimal duct obstruction, and Nail pits and others; and common findings: Absent nipple, Hypoplastic nipples, Breast hypoplasia, and Sparse scalp hair and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	9	Dry skin, Nail pits, Cutaneous photosensitivity
Arms and legs	6	Toe syndactyly, Split hand, Split foot
Head and neck	2	Orofacial cleft, Abnormality of the face
Muscles	1	Dermal atrophy
Eyes	1	Conjunctivitis

GeneReviews

Clinical Guidance

The TP63-related disorders include the overlapping phenotypes summarized in and fully described in the text that follows. Table 2. TP63-Related Disorders: Comparison of Phenotypes by Select Features Feature | TP63-Related Disorder

AEC	ADULT	EEC3	Limb-mammary	SHFM4	Orofacialcleft 8
Ankyloblepharon filiforme adnatum	X	—	—

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

A TP63-related disorder should be suspected/considered in individuals with a combination of the following findings.

Clinical findings

Ankyloblepharon filiforme adnatum
Dermal erosions
Signs of ectodermal dysplasia
Hypohidrosis
Nail dysplasia
Sparse hair
Tooth abnormalities
Freckles in sun-exposed areas
Cleft lip/palate
Split-hand/foot malformation and/or syndactyly
Lacrimal duct obstruction
Hypopigmentation
Hypospadias
Hypoplastic nipples/breasts

Source: GeneReviews — "TP63-Related Disorders"

GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of TP63-Related Disorders

TP63-Related Disorder	Differential Diagnosis	Gene/GeneticMechanism	MOI	Overlapping Features	Distinguishing Features
AEC syndrome	Epidermolysis bullosa simplex (EBS)	EXPH5 KRT5 KRT14	—

Genetic testing for TP63 is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for ADULT syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for TP63-related disorders have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with a TP63 -related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with a TP63-Related Disorder

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

Source: GeneReviews — "TP63-Related Disorders"

GeneReviews

Clinical Guidance

Prolonged exposure to sunlight should be avoided to:

Prevent sunburn of hypopigmented areas and increase in contrast between the patchy areas of hyper- and hypopigmentation seen in AEC syndrome;
Minimize freckling of skin in individuals with ADULT syndrome.

Source: GeneReviews — "TP63-Related Disorders"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "TP63-Related Disorders"

Clinical Trials

View trials for ADULT syndrome

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Latest News & Developments

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AI-curated news mentioning ADULT syndrome

Updated Jul 21, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•2 months ago(Jul 21)

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.

Gene & Cell Therapy•

Science & Discovery

•2 months ago(Jul 8)

Gene therapy for children with sickle cell disease approved by FDA

A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.

View all news for ADULT syndrome

Kisho

ADULT syndrome

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

Gene therapy for children with sickle cell disease approved by FDA

ADULT syndrome

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is ADULT syndrome?

What are the symptoms of ADULT syndrome?

What causes ADULT syndrome?

How is ADULT syndrome inherited?

How rare is ADULT syndrome?

How is ADULT syndrome diagnosed?

Are there treatments for ADULT syndrome?

What complications can arise from ADULT syndrome?

How does ADULT syndrome affect daily life activities?

What should families consider when planning for children if one parent has ADULT syndrome?

What specialists should be involved in the care of someone with ADULT syndrome?

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

Gene therapy for children with sickle cell disease approved by FDA