Frontonasal Dysplasia malady

NIH Rare Diseases: Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.³⁰

MalaCards: Frontonasal Dysplasia, also known as median facial cleft syndrome, is related to polydactyly and frontonasal dysplasia acromelic. An important gene associated with Frontonasal Dysplasia is ALX4 (ALX homeobox 4). Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia: Frontonasal dysplasia is a rare anomaly with distinct nasal deformities. Its basic characteristics...⁴⁴ more...

OMIM: 136760

frontonasal dysplasia 30 median facial cleft syndrome 30 43

frontorhiny 30 33

Diseases related to frontonasal dysplasia by text searches and GeneDecks gene sharing:

(show all 11)

id	Related Disease	Score	Top Affiliating Genes
1	polydactyly	12.4	ALX3, ALX4
2	frontonasal dysplasia acromelic	7.4
3	frontonasal dysplasia klippel feil syndrome	7.4
4	frontonasal dysplasia phocomelic upper limbs	7.4
5	frontonasal dysplasia 3	7.4
6	frontonasal dysplasia 2	7.4
7	frontonasal dysplasia 1	7.4
8	coloboma of alar-nasal cartilages with telecanthus	6.5
9	microphthalmia	6.5
10	sener syndrome	6.5
11	bifid nose	6.5

Clinical features from OMIM: 136760

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to frontonasal dysplasia:

²²

MGI Mouse Phenotypes related to frontonasal dysplasia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	8.8	ALX4, ALX3, ALX1
2	craniofacial phenotype	MP:0005382	8.7	ALX4, ALX3, ALX1
3	respiratory system phenotype	MP:0005388	8.7	ALX3, ALX1, ALX4
4	digestive/alimentary phenotype	MP:0005381	8.6	ALX4, ALX3, ALX1
5	normal phenotype	MP:0002873	8.6	ALX4, ALX3, ALX1
6	vision/eye phenotype	MP:0005391	8.5	ALX4, ALX3, ALX1
7	skeleton phenotype	MP:0005390	8.3	ALX1, ALX4, ALX3

Articles related to frontonasal dysplasia:

id	Title	Authors	Year	Affiliating Genes
1	Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-relat ed frontonasal dysplasia. (20451171)	Uz E.... Akarsu N.A.	2010	ALX1

Genes related to frontonasal dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALX4	ALX homeobox 4	11.1	Summaries
2	FND	frontonasal dysplasia	11.1	Aliases & Descriptions
3	ALX1	ALX homeobox 1	11.0	Publications
4	ALX3	ALX homeobox 3	11.0

Cellular components related to frontonasal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	9.1	ALX1, ALX4

Biological processes related to frontonasal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	embryonic forelimb morphogenesis	GO:035115	9.5	ALX3, ALX4
2	embryonic hindlimb morphogenesis	GO:035116	9.4	ALX3, ALX4
3	regulation of apoptotic process	GO:042981	9.4	ALX4, ALX3
4	palate development	GO:060021	9.0	ALX4, ALX1
5	anterior/posterior pattern specification	GO:009952	8.8	ALX1, ALX4
6	embryonic skeletal system morphogenesis	GO:048704	8.7	ALX4, ALX3, ALX1

Molecular functions related to frontonasal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein heterodimerization activity	GO:046982	9.1	ALX1, ALX4
2	sequence-specific DNA binding	GO:043565	8.5	ALX1, ALX3, ALX4
3	sequence-specific DNA binding transcription factor activity	GO:003700	8.3	ALX1, ALX3, ALX4