FND1
MCID: FRN036
MIFTS: 42
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Frontonasal Dysplasia 1 (FND1)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Frontonasal Dysplasia 1:
Characteristics:Orphanet epidemiological data:59
frontorhiny
Inheritance: Autosomal recessive; Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
majority of patients have normal intelligence HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Eye diseases Skin diseases Neuronal diseases Smell/Taste diseases
ICD10:
34
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NIH Rare Diseases
:
53
Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. Symptoms often vary, however more common symptoms include wide spaced eyes, a widow's peak, and a broad nose. Less common features include eye abnormalities, missing the connection between the two halves of the brain (agenesis of the corpus callosum), hearing loss, and undescended testicles in males (cryptorchidism). Most people with the dysplasia have normal intelligence. There are three main types of frontonasal dysplasia that are distinguished by their genetic causes and symptoms. Other frontonasal dysplasia syndromes have also been described. Frontonasal dysplasia is very rare, with around 100 cases reported in the literature.
Type 1 frontonasal dysplasia is caused by mutations (changes) in the ALX3 gene, type 2 is caused by mutations in the ALX4 gene, and type 3 is caused by mutations in the ALX1 gene. Type 1 and type 3 frontonasal dysplasia are inherited in an autosomal recessive manner, whereas frontonasal dysplasia type 2 is inherited in an autosomal dominant manner. Diagnosis is often first suspected when a baby has features consistent with frontonasal dysplasia. X-rays and genetic testing may be used to confirm the diagnosis. Treatment of the disease may include one or more surgeries to correct certain birth defects, as well as early intervention and special education services, if needed.
MalaCards based summary : Frontonasal Dysplasia 1, also known as frontonasal dysplasia, is related to frontonasal dysplasia 3 and frontonasal dysplasia 2. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, brain and bone, and related phenotypes are hypertelorism and ptosis 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 : 57 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported. Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features. Also see acromelic frontonasal dysplasia (AFND; 603671), frontofacionasal dysplasia (FFND; 229400), oculoauriculofrontonasal syndrome (OAFNS; 601452), the acrofrontofacionasal dysostosis syndromes (201180, 239710), and craniofrontonasal syndrome (304110). (136760) UniProtKB/Swiss-Prot : 75 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. Wikipedia : 76 Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:136760Human phenotypes related to Frontonasal Dysplasia 1:59 32 (show top 50) (show all 62)
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MalaCards organs/tissues related to Frontonasal Dysplasia 1:41
Eye,
Brain,
Bone,
Skin,
Testes,
Heart,
Myeloid
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Articles related to Frontonasal Dysplasia 1:(show top 50) (show all 82)
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UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:75
ClinVar genetic disease variations for Frontonasal Dysplasia 1:6 (show all 15)
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Search
GEO
for disease gene expression data for Frontonasal Dysplasia 1.
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