Ablepharon macrostomia syndrome

Información en español Title

Other Names:

AMS; Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Mouth Diseases See More

Summary Summary

Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. Other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation.^[1]^[2] It belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). Ablepharon macrostomia syndrome is caused by mutations in the TWIST2 gene.^[2] Inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family).^[1]^[2] Treatment is aimed toward correcting the problems that are present.^[3]

Mutations in TWIST2 gene also cause the Barber Say syndrome and Setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.^[4]

Last updated: 3/6/2017

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Ablepharon	Absent eyelids Missing eyelids [ more ]	0011224
Absent eyebrow	Failure of development of eyebrows	0002223
Absent eyelashes	Failure of development of eyelashes	0000561
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Redundant skin	Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ]	0001582
Sparse hair		0008070
Underdeveloped nasal alae		0000430
Wide mouth	Broad mouth Large mouth [ more ]	0000154
30%-79% of people have these symptoms
Abnormality of female external genitalia	Abnormal female external genitalia	0000055
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aplasia/Hypoplasia of the nipples	Absent/small nipples Absent/underdeveloped nipples [ more ]	0006709
Breast hypoplasia	Underdeveloped breasts	0003187
Camptodactyly of finger	Permanent flexion of the finger	0100490
Corneal opacity		0007957
Cryptophthalmos		0001126
Dry skin		0000958
Excessive wrinkled skin		0007392
Global developmental delay		0001263
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hypoplasia of penis	Underdeveloped penis	0008736
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
Microdontia	Decreased width of tooth	0000691
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Thin skin		0000963
Umbilical hernia		0001537
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
5%-29% of people have these symptoms
Abnormal hair pattern	Abnormal distribution of hair	0010720
Abnormality of skin pigmentation	Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ]	0001000
Atresia of the external auditory canal	Absent ear canal	0000413
Corneal erosion		0200020
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Omphalocele		0001539
Short metacarpal	Shortened long bone of hand	0010049
Short upper lip	Decreased height of upper lip Decreased vertical length of upper lip Shortening of upper lip [ more ]	0000188
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Percent of people who have these symptoms is not available through HPO
Abnormal nasal morphology	Abnormal of nasal shape Abnormal of shape of nose [ more ]	0005105
Abnormality of the mouth	Abnormal mouth	0000153
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Microtia, third degree		0011267
Ventral hernia		0002933

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/7/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More 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

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

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 Ablepharon macrostomia syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Ablepharon macrostomia syndrome. Orphanet. November, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=920.
Marchegiani S & cols. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am. J. Hum. Genet. 2015; 97:99-110. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572501/#bib27.
Ablepharon-Macrostomia Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/.
De Maria B, Mazzanti L, Roche N & Hennekam. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. Am J Med Genet A. August, 2016; 170(8):1989-200. https://www.ncbi.nlm.nih.gov/pubmed/27196381.
Ablepharon-Macrostomia Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/.