Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.
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Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.
has abstract
Ablepharon macrostomia syndrom ...... s of phenotypic abnormalities.
@en
Das Ablepharon-Makrostomie-Syn ...... rolyn West aus dem Jahre 1977.
@de
El síndrome de abléfaron-macro ...... onstrucción de los párpados.
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Le syndrome ablépharie-macrost ...... iation de plusieurs symptômes.
@fr
Το σύνδρομο αβλεφαρίας - μακρο ...... ά στις φαινοτυπικές ανωμαλίες.
@el
متلازمة الشدق اللاجفني (Ableph ...... ساي من حيث التشوهات المظهرية.
@ar
DiseasesDB
ICD10
GroupMajor.minor
OMIM id
Wikipage page ID
10,776,100
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985,549,777
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Ablepharon macrostomia syndrome has an autosomal dominant mode of inheritance.
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DiseasesDB
ICD
GroupMajor.minor
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name
Ablepharon macrostomia syndrome
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OMIM
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Ablepharon macrostomia syndrom ...... and intellectual disabilities.
@en
Das Ablepharon-Makrostomie-Syn ...... rolyn West aus dem Jahre 1977.
@de
El síndrome de abléfaron-macro ...... en el desarrollo del lenguaje.
@es
Le syndrome ablépharie-macrost ...... iation de plusieurs symptômes.
@fr
Το σύνδρομο αβλεφαρίας - μακρο ...... ά στις φαινοτυπικές ανωμαλίες.
@el
متلازمة الشدق اللاجفني (Ableph ...... عوبات اللغة والإعاقات الذهنية.
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label
Ablepharon macrostomia syndrome
@en
Ablepharon-Makrostomie-Syndrom
@de
Syndrome ablépharie-macrostomie
@fr
Síndrome de abléfaron-macrostomía
@es
Σύνδρομο αβλεφαρίας - μακροστομίας
@el
متلازمة الشدق اللاجفني
@ar
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name
Ablepharon macrostomia syndrome
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