Holoprosencephaly - MeSH - NCBI

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Items: 19

Select item 680161421.

Holoprosencephaly

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

Year introduced: 1991

Select item 675803352.

Nonsyndromic Holoprosencephaly [Supplementary Concept]

Date introduced: October 25, 2013

Select item 675376843.

Genoa syndrome [Supplementary Concept]

Date introduced: August 25, 2010

Select item 675672784.

Holoprosencephaly 10 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 675636595.

Holoprosencephaly 9 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 675379966.

Dysgnathia complex [Supplementary Concept]

Date introduced: August 25, 2010

Select item 675358297.

Pseudotrisomy 13 syndrome [Supplementary Concept]

Date introduced: August 25, 2010

Select item 675664648.

Holoprosencephaly 5 [Supplementary Concept]

mutation in ZIC2

Date introduced: November 5, 2012

Select item 675652749.

Holoprosencephaly 6 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756448410.

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756440911.

Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756418112.

Holoprosencephaly 3 [Supplementary Concept]

PROM

Date introduced: November 5, 2012

Select item 6756418013.

Holoprosencephaly 4 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756372314.

Holoprosencephaly 8 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756366015.

Holoprosencephaly 7 [Supplementary Concept]

Date introduced: November 5, 2012

Select item 6756357916.

Holoprosencephaly 2 [Supplementary Concept]

PROM

Date introduced: November 5, 2012

Select item 6756257317.

cyclopia sequence [Supplementary Concept]

A hereditary autosomal recessive form of holoprosencephaly which maps to chromosome 21. OMIM: 236100

Date introduced: November 5, 2012

Select item 6753832818.

Holoprosencephaly, recurrent infections, and monocytosis [Supplementary Concept]

Date introduced: August 25, 2010

Select item 6753754919.

Lambotte syndrome [Supplementary Concept]

Date introduced: August 25, 2010

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