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Disease Profile
Ablepharon macrostomia 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.
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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.
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)
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
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 |
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 |
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 |
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
- Ablepharon macrostomia syndrome. Orphanet. November, 2014; https://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/.