About: Megalocornea-intellectual disability syndrome

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Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Neuhäuser-Syndrom (de) Megalocornea-intellectual disability syndrome (en)
rdfs:comment	Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature. (en) Das Neuhäuser-Syndrom oder Megalokornea-Intelligenzminderung-Syndrom, engl. Megalocornea-Mental Retardation Syndrome oder kurz MMR Syndrome ist eine vererbbare Erkrankung mit Vergrößerung der Hornhaut (Megalokornea), Gesichts-Dysmorphien und epileptischen Anfällen. Die Bezeichnung bezieht sich auf den Erstautor des Erstbeschriebes von 1975, den deutschen Neuropädiater Gerhard Neuhäuser. Die Erkrankung ist nicht zu verwechseln mit dem Neuhäuser-Kaveggia-Syndrom (BD-Syndrom) oder dem Temtamy-Shalash-Syndrom. (de)
name	Megalocornea-intellectual disability syndrome (en)
dcterms:subject	Rare genetic syndromes Syndromes with intellectual disability Syndromes affecting the cornea
Wikipage page ID	71005134 (xsd:integer)
Wikipage revision ID	1110915938 (xsd:integer)
Link from a Wikipage to another Wikipage	Megalocornea Rare genetic syndromes Genetic disorder Low-set ears Genetic mutation Specific developmental disorder Medical genetics Psychomotor retardation Syndromes with intellectual disability Hypotonia Syndromes affecting the cornea Intellectual disabilities Epicanthal fold Frontal bossing
sameAs	Megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome
specialty	Medical genetics
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Infobox_medical_condition
deaths	- (en)
onset	Birth (en)
symptoms	Ocular and intellect symptoms (en)
causes	Genetic mutation
duration	Lifelong (en)
frequency	very rare, only 24 cases have been described in medical literature (en)
synonyms	Neuhauser syndrome (en)
has abstract	Das Neuhäuser-Syndrom oder Megalokornea-Intelligenzminderung-Syndrom, engl. Megalocornea-Mental Retardation Syndrome oder kurz MMR Syndrome ist eine vererbbare Erkrankung mit Vergrößerung der Hornhaut (Megalokornea), Gesichts-Dysmorphien und epileptischen Anfällen. Die Bezeichnung bezieht sich auf den Erstautor des Erstbeschriebes von 1975, den deutschen Neuropädiater Gerhard Neuhäuser. Die Erkrankung ist nicht zu verwechseln mit dem Neuhäuser-Kaveggia-Syndrom (BD-Syndrom) oder dem Temtamy-Shalash-Syndrom. Anscheinend handelt es sich um eine heterogene Krankheitsgruppe.Von Verloes und Mitarbeitern wurde nachstehende Typisierung vorgeschlagen: * Typ I Neuhäuser, rezessiv mit Iris-Hypoplasie und geringeren Anomalien * Typ II Frank-Temtamy rezessiv mit Kamptodaktylie, Skoliose und Wachstumsverzögerung * Typ III Verloes rezessiv mit normaler Iris, schwerer Muskelhypotonie, Makrozephalie und kleineren Anomalien * Typ IV möglicherweise Frydman mit normaler Iris, Megalenzephalie und Obesitas. * Typ V bislang nicht klassifizierbar (de) Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature. (en)
prevention	none (en)
prognosis	Medium (en)
prov:wasDerivedFrom	wikipedia-en:Megalocornea-intellectual_disability_syndrome?oldid=1110915938&ns=0
page length (characters) of wiki page	7025 (xsd:nonNegativeInteger)
alias	(en) Neuhauser syndrome (en)
foaf:isPrimaryTopicOf	wikipedia-en:Megalocornea-intellectual_disability_syndrome
is Link from a Wikipage to another Wikipage of	Megalocornea
is foaf:primaryTopic of	wikipedia-en:Megalocornea-intellectual_disability_syndrome

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