Frontonasal Dysplasia 1 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Skin diseases
Aliases & Descriptions for Frontonasal Dysplasia 1:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Age of onset: Neonatal
frontonasal dysplasia 1:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Skin diseases
NIH Rare Diseases:47 Frontonasal dysplasia is a rare condition that results from abnormal development of the head and face before birth. Individuals with this condition have at least two of the following physical features: widely spaced eyes (ocular hypertelorism); a flat, broad nose; a slit (cleft) in one or both sides of the nose, causing it to separate into two parts; the tip of the nose may be missing; a central cleft involving the nose, upper lip, or roof of the mouth (cleft lip and/or palate); an abnormal skin-covered gap in the front of the skull where bone should be (anterior cranum bifidum occultum); or widow's peak hairline. Other features may include other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. Some individuals may have intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. Mutations in the ALX3 gene cause frontonasal dysplasia type 1. Mutations in the ALX4 gene cause type 2. Type 3 is caused by mutations in the ALX1 gene. When frontonasal dysplasia is caused by mutations in the AXL1 or AXL3 gene, it is inherited in an autosomal recessive fashion. Mutations in the AXL4 gene are inherited in an autosomal dominant fashion. Treatment of the condition depends on the severity of the signs and symptoms and may include one or more surgical procedures as well as special social, educational and medical services. Last updated: 8/16/2016
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, bone and skin.
UniProtKB/Swiss-Prot:69 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:25 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.
OMIM:51 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...
Wikipedia:70 Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis,... more...
Human phenotypes related to Frontonasal Dysplasia 1:63 (show all 49)
MalaCards organs/tissues related to Frontonasal Dysplasia 1:35
Eye, Bone, Skin, Brain
UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:69
Clinvar genetic disease variations for Frontonasal Dysplasia 1:5
Search GEO for disease gene expression data for Frontonasal Dysplasia 1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet