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Disease Profile

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q82.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ankyloblepharon ectodermal defects cleft lip/palate; AEC syndrome; Hay-Wells syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;

Summary

Ankyloblepharon-ectodermal defectscleft lip/palate syndrome (AEC syndrome)  is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and hair loss. Other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. This condition is caused by mutations in the TP63 gene and is inherited in an autosomal dominant fashion. Rapp-Hodgkin syndrome was classified as a separate disorder until it was discovered that it result from mutations in the same part of the TP63 gene, and, therefore, most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.[1]

 

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ankyloblepharon
Adhesion of eyelids
Eyelids stuck together

[ more ]

0009755
Coarse hair
Coarse hair texture
0002208
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Hyperconvex fingernails
0001812
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Non-midline cleft lip
0100335
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Conical tooth
Cone shaped tooth
Shark tooth

[ more ]

0000698
Generalized hyperpigmentation
0007440
Hypodontia
Failure of development of between one and six teeth
0000668
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Submucous cleft hard palate
0000176
Submucous cleft soft palate
0011819
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

0000687
5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Absent lacrimal punctum
0001092
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Finger syndactyly
0006101
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Supernumerary nipple
Accessory nipple
0002558
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Abnormality of the nervous system
Neurologic abnormalities
Neurological abnormality

[ more ]

0000707
Absent eyelashes
Failure of development of eyelashes
0000561
Anhidrosis
Lack of sweating
Sweating dysfunction

[ more ]

0000970
Anonychia
Absent nails
Aplastic nails

[ more ]

0001798
Atresia of the external auditory canal
Absent ear canal
0000413
Autosomal dominant inheritance
0000006
Blepharitis
Inflammation of eyelids
0000498
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Conjunctivitis
Pink eye
0000509
Hyperconvex nail
Increased nail curvature
Nail overcurvature

[ more ]

0001795
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Hypospadias
0000047
Lacrimal duct atresia
Unopened tear duct
0000564
Micropenis
Short penis
Small penis

[ more ]

0000054
Nail dystrophy
Poor nail formation
0008404
Oval face
Oval facial shape
0000300
Patchy alopecia
Patchy baldness
0002232
Patent ductus arteriosus
0001643
Selective tooth agenesis
0001592
Sparse body hair
0002231
Vaginal dryness
0031088

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. Click on the link to view a sample search on this topic.

          References

          1. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. Genetics Home Reference. June 2011; https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome. Accessed 1/5/2012.