Frontonasal Dysplasia 1 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Frontonasal Dysplasia 1:
frontonasal dysplasia 1:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
OMIM:49 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...
MalaCards based summary: Frontonasal Dysplasia 1, also known as frontorhiny, is related to frontonasal dysplasia 2 and frontonasal dysplasia 3, and has symptoms including hypertelorism, median cleft lip and midline defect of the nose. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, skin and bone.
NIH Rare Diseases:45 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. last updated: 1/9/2012
UniProtKB/Swiss-Prot:67 Frontonasal dysplasia 1: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
Genetics Home Reference:23 Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
Diseases in the Frontonasal Dysplasia 1 family:
Diseases related to Frontonasal Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of diseases related to Frontonasal Dysplasia 1:
HPO human phenotypes related to Frontonasal Dysplasia 1:(show all 53)
MalaCards organs/tissues related to Frontonasal Dysplasia 1:33
Eye, Skin, Bone
UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:67
Clinvar genetic disease variations for Frontonasal Dysplasia 1:5
Search GEO for disease gene expression data for Frontonasal Dysplasia 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet