Rare Nephrology News
Disease Profile
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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 defects
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 |
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 |
|
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 |
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 |
| 0000006 | ||
| Blepharitis |
Inflammation of eyelids
|
0000498 |
|
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis may include epidermolysis bullosa simplex, disorders of cornification, CHAND syndrome and hypohidrotic ectodermal dysplasia. Allelic disorders include Acro-dermal-ungual-lacrimal-tooth (ADULT) syndrome, ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, limb-mammary syndrome and split hand/foot malformation type 4. AEC is generally distinguished from these other disorders by clinical features (particularly scalp erosions) as well as the location of the TP63 change. The Rapp-Hodgkin syndrome is not a separate disease entity, but is now considered part of the disease spectrum of AEC syndrome.
Visit the Orphanet disease page for more information.
|
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
-
ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: info@acpa-cpf.org
Website: https://cleftline.org/ -
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: +1-618-566-2020
Fax: +1-618-566-4718
E-mail: info@nfed.org
Website: https://www.nfed.org/
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
- 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.