Frontonasal dysplasia
Última actualización 18 Aug 2020
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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.
Descripción
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.
Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.
There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.
Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
FND
FNM
Frontonasal dysplasia sequence
Frontonasal malformation
Frontorhiny
Median facial cleft syndrome
Related patient information and medicines
Patient information leaflet
Exámenes físicos de recién nacidos
Your baby will have a head to toe examination by a healthcare professional (usually a doctor) within the first three days (or 72 hours) of birth. Examining your baby's head including their fontanelles (the 'soft spots' on the top of babies' skulls); their face, nose, ears and neck; and their mouth, including their palate (to check for cleft palate.
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Displasia del desarrollo de la cadera
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Luxación
General health. Presence of conditions which may affect healing - for example, poorly controlled diabetes , oral steroid use. Developmental dysplasia of the hip. This is seen in babies w... It is more common in babies born bottom first (breech) and in girls. For more information see the separate leaflet llamado Developmental Dysplasia of the Hip..
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Crecimiento restringido
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Problemas de cadera
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of cadera problems in children Developmental dysplasia of el hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Lecturas adicionales y referencias
- Frontonasal dysplasia; MedlinePlus, National Library of Medicine.
- Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S. The spectrum of median craniofacial dysplasia. Plast Reconstr Surg. 2011 Feb;127(2):812-821. doi: 10.1097/PRS.0b013e318200aa08.
- Giffoni SD, Goncalves VM, Zanardi VA, Lopes VL. Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. Arq Neuropsiquiatr. 2004 Jun;62(2A):195-8. doi: 10.1590/s0004-282x2004000200001. Epub 2004 Jun 23.
- Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A. 2012 Jan;158A(1):236-44. doi: 10.1002/ajmg.a.34390. Epub 2011 Dec 2.
- Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19.
- Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT. Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management. Arch Facial Plast Surg. 2011 Nov-Dec;13(6):415-20. doi: 10.1001/archfacial.2011.684.
- Roarty JD, Pron GE, Siegel-Bartelt J, Posnick JC, Buncic JR. Ocular manifestations of frontonasal dysplasia. Plast Reconstr Surg. 1994 Jan;93(1):25-30. doi: 10.1097/00006534-199401000-00004.
- Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.
- Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6.
- Wu E, Vargevik K, Slavotinek AM. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15;143A(24):3069-78. doi: 10.1002/ajmg.a.31963.
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