ADULT Syndrome
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ADULT Syndrome Overview

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Learn About ADULT Syndrome

What is the definition of ADULT Syndrome?
ADULT syndrome, also known as Acro-Dermato-Ungual-Lacrimal-Tooth syndrome, is a rare genetic autosomal dominant ectodermal dysplasia (abnormality of ectodermal tissues) caused by a TP63 mutation. In the human embryo, ectodermal tissues form many structures, including teeth, nails, hair, skin, fingers, and toes.
What are the symptoms of ADULT Syndrome?
Symptoms of ADULT syndrome include abnormalities of ectodermal tissue, such as hypodontia (absence of one or more teeth); nail and lacrimal (tear) duct abnormalities; conjunctivitis; light sensitivity; hypoplastic breasts (insufficient mammary glandular tissue); hypotrichosis (little or no hair growth); blonde or light hair, eyelashes, and eyebrows; lack of axillary (underarm) hair; dry or thin skin; dermatitis or eczema; excessive freckling; as well as ectrodactyly (an abnormality of fingers or toes, such as split hand or foot, or a lack of fingers or toes), lack of fingerprints, and syndactyly (fused fingers or toes).
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What are the current treatments for ADULT Syndrome?
Treatment for ADULT syndrome requires a multidisciplinary team of specialists. Some deformities of the hands and feet may be treated with surgery, while dental treatment may include the use of dentures, dental implants, or bridges. Associated skin disorders, such as dry skin or eczema, may be treated with topical emollients. Abnormalities of the lacrimal (tear) ducts may require ophthalmological (eye) surgery.
Who are the top ADULT Syndrome Local Doctors?
Elite in ADULT Syndrome
Elite in ADULT Syndrome
Referral may be required
Montpellier, FR 

Lucie Barateau practices practicing medicine in Montpellier, France. Ms. Barateau is rated as an Elite expert by MediFind in the treatment of ADULT Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Drowsiness, Narcolepsy, Idiopathic Hypersomnia, and Kleine Levin Syndrome.

Elite in ADULT Syndrome
Elite in ADULT Syndrome
Referral may be required
Bologna, IT 

Fabio Pizza practices practicing medicine in Bologna, Italy. Mr. Pizza is rated as an Elite expert by MediFind in the treatment of ADULT Syndrome. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Narcolepsy, Drowsiness, Idiopathic Hypersomnia, Excessive Daytime Sleepiness, and Gastric Bypass.

 
 
 
 
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Experienced in ADULT Syndrome
Experienced in ADULT Syndrome
Referral may be required
Before you request

Christiane Querfeld, M.D., PH.D.

1500 Duarte Rd, 
Duarte, CA 
800-826-4673
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Christiane Querfeld is a Dermatologist practicing medicine in Duarte, California. Dr. Querfeld is rated as an Experienced provider by MediFind in the treatment of ADULT Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Mycosis Fungoides, Cutaneous T-Cell Lymphoma (CTCL), T-Cell Lymphoma, and Sezary Syndrome. Dr. Querfeld is currently accepting new patients.

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What are the latest ADULT Syndrome Clinical Trials?
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Enrollment Status: Recruiting
Publish Date: November 19, 2024
Intervention Type: Other

Summary: General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.

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