Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

which is characterized by

megalocornea Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching and exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq2 ...

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases a ...

from birth, variable

intellectual disabilities Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...

, psychomotor delays,

developmental delays Specific developmental disorders (SDD) was a classification of disorders characterized by delayed development in one specific area or areas.Ahuja Vyas: ''Textbook of Postgraduate Psychiatry'' (2 Vols.), 2nd ed. 1999 Specific developmental disorders ...

, and facial dysmorphisms such as round face,

frontal bossing Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing m ...

, antimongoloid slants of the eyes,

epicanthal fold An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight ...

, large,

low-set ears Low-set ears are a clinical feature in which the ears are positioned lower on the head than usual. They are present in many congenital conditions. Low-set ears are defined as outer ears positioned two or more standard deviations lower than the pop ...

, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature.

References

{{reflist Rare genetic syndromes Syndromes with intellectual disability Syndromes affecting the cornea