Frontonasal Dysplasia 1

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OMIM 57 136760 Orphanet 59 ORPHA391474 ICD10 via Orphanet 34 Q75.8 MedGen 42 C1876203

MeSH 44 D000013 KEGG 37 H00528 H00850 SNOMED-CT via HPO 69 258211005 204878001 63567004 87979003 230745008 194021007 22006008 95515009 44057004 249321001 204508009 249327002 249326006 11731003 11934000 128306009 193570009 247053007 204108000 61142002 92828000 93390002 43476002 205131007 228156007 247578003 91138005 5102002 30915001 57219006 86299006 237836003 718099006 86414002 29271008 17268007 202281000 more UMLS 73 C1876203 C0265232

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 low-set ears

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...

Clinical features from OMIM:

136760

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 1

Search GEO for disease gene expression data for Frontonasal Dysplasia 1.