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Disease Profile

Ablepharon macrostomia 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

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)

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;

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]

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
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
Underdeveloped tissue around nostril
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
Damage to outer layer of the cornea of the eye
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
Autosomal dominant inheritance
0000006
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Microtia, third degree
0011267
Ventral hernia
0002933

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.

References

  1. Ablepharon macrostomia syndrome. Orphanet. November, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=920.
  2. 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.
  3. Ablepharon-Macrostomia Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/.
  4. 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.
  5. Ablepharon-Macrostomia Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/.