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Widow's Peak Syndrome


Presentation

  • Presentation on theme: "Genetics: Part I Mendel and the Gene. 2 Marfans Syndrome Cleft chin Colorblindness Polydactyly Widows peak Freckles.[slideplayer.com]
  • These findings are at variance with previous reports from a certain study. [2] The present study revealed that widow's peak was present in 37.42% of the subjects.[bioanthrojournal.org]
  • A total of 12 patients presented severe mental retardation. Discussion At present, the diagnosis of AAS is primarily based on clinical criteria.[nature.com]
  • The patients presented with typical features of median cleft lip, mild alveolar notching, flattening of nose, widened ala with hypertelorism.[ispub.com]
  • On examination a bony prominence may be present. It is purported that the periorbital fields of hairless region or hairgrowth suppression are widely spaced or the hairless regions are smaller as compared to normal.[radiopaedia.org]
Short Stature
  • A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother.[ncbi.nlm.nih.gov]
  • References Aarskog, D.: A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J.[link.springer.com]
  • This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly.[jmgims.co.in]
  • References 1 Aarskog D : A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970; 77 : 856–861. 2 Scott Jr CI : Unusual facies, joint hypermobility, genital anomaly and short stature.[nature.com]
  • Carrier females may present with short stature and widow’s peak ( Orrico et al. 2010 Am J Med Genet 152A:313-318 ).[exeterlaboratory.com]
Surgical Procedure
  • procedures safely and efficiently.[books.google.com]
  • However, both surgical and non surgical procedures are available to treat many of the conditions caused by the disorder.[pfond.cmmt.ubc.ca]
  • Treatment will involve surgical procedures, such as: • orthodontic and dental surgery • hernia repair surgery • testicle surgery You may also like to learn about: Congenital defect Cryptorchidism Hernia Behaviour disorder Genetic counseling Seizures[ask4healthcare.com]
  • Treatment will probably involve surgical procedures, such as: orthodontic and dental surgery to repair skewed teeth and abnormal bone structure hernia repair surgery to take out a groin or scrotum lump testicular surgery to allow the testicles to descend[healthline.com]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • Disorders ofthis type include: cystic fibrosis, sickle cell anemia, andTay-Sachs disease.[answers.com]
  • These tests can be used to determine electrolyte imbalances, macro- or micronutrient deficiencies, and anemia.[todaysgeriatricmedicine.com]
Freckles
  • Presentation on theme: "Genetics: Part I Mendel and the Gene. 2 Marfans Syndrome Cleft chin Colorblindness Polydactyly Widows peak Freckles.[slideplayer.com]
  • Genetics problem 2: A man and a woman are heterozygous for freckles. Freckles (F) are dominant over no freckles (f). What are the chances that their children will have freckles? 1. 2. 3.[biology.iupui.edu]
  • […] dominant dominant or recessive: no freckles recessive dominant or recessive: hair on back of hand dominant dominant or recessive: no hair on back of hand recessive dominant or recessive: hitchhiker's thumb dominant dominant or recessive: no hitchhiker's[freezingblue.com]
  • […] broad lips . no dimples attached earlobes no freckles thin lips . appendages. extra digits fused digits short digits fingers lack 1 joint limb dwarfing clubbed thumb double-jointedness. normal number normal digits normal digits normal joints normal proportion[answers.com]
  • Eye color, dimples and freckles are physical traits we inherit from our parents that are obvious to the naked eye. But when was the last time you looked at. A receding hairline is a form of baldness often referred to as a widow's peak .[4pimak.linkpc.net]
Ptosis
  • A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother.[ncbi.nlm.nih.gov]
  • Genetic Anomalies of the Eyelids The genetic forms of ptosis are summarized in Table 1. • Congenital ptosis.[reviewofophthalmology.com]
  • In addition, patients with the Rieger syndrome usually do not have microcephaly, short stature, congenital ptosis, or epicanthal folds.[docslide.com.br]
  • Secondary features, which are variable, include broad forehead, widow’s peak, ptosis, downward slanting palpebral fissures, broad feet, abnormal auricles and umbilical hernia.[exeterlaboratory.com]
  • Salient Features 3-7 Facial : Hypertelorism, down slanting palpebral fissures, ptosis, anteverted nostrils, mid face hypoplasia and Widow's peak (distinct point to anterior hairline on the forehead).[genetics4medics.com]
Colorblindness
  • Presentation on theme: "Genetics: Part I Mendel and the Gene. 2 Marfans Syndrome Cleft chin Colorblindness Polydactyly Widows peak Freckles.[slideplayer.com]
  • […] for sons If Mary and her mom are both colorblind is her dad yes because with out colorblindness from the dad and mom the kid can't be colorblind If a father with normal vision has a son with colorblindness, what is the fathers phenotype and genotype[quizlet.com]
  • Since colorblindness is passed down on the X chromosome, Gwen only has one allele for colorblindness (X c X). She needs both X chromosomes in order to be colorblind. Therefore, she is a carrier.[answers.com]
Blepharoptosis
  • For example, facial reconstructive procedures can reduce the visible effects of facial abnormalities including blepharoptosis, cleft lip and ocular hypertelorism.[pfond.cmmt.ubc.ca]
  • BD:OAS Kohn R, Romano PE (197 1): Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus: A syndrome with no name. Am J Opthalmol72:625-632. Kousseff BG, Nichols P, Guggino G (1983): A new oculo-cerebro-osseous syndrome.[docslide.com.br]
Antimongoloid Slant
  • He presented with hypertelorism (inner canthal distance 3.9 cm; 97th percentile – outer canthal distance 11.5 cm; 97th percentile), antimongoloid slant of palpebral fissures, widow's peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly[nature.com]
Periorbital Fullness
  • fullness, poor to near-normal language skills, renal abnormalities, stellate pattern of iris, systemic arterial stenosis, wide mouth Table 4.[aafp.org]
Joint Dislocation
  • dislocations Chronic joint/limb pain Positive family history Vascular [7] [12] AD Type IV Thin, translucent skin Arterial/intestinal/uterine fragility or rupture Extensive bruising Characteristic facial appearance Acrogeria Hypermobility of small joints[physio-pedia.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Suggestibility
  • Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition. Copyright 2001 Wiley-Liss. Inc.[ncbi.nlm.nih.gov]
  • Wide spacing also explains the association between ocular hypertelorism – that is, the eyes being abnormally far apart – and widow's peak ; this was suggested by findings in an unusual case of ocular hypertelorism in which surrounding scalp-hair growth[liquisearch.com]
  • New research suggests that orgasm—by any means possible—may be a good way to alleviate the condition.[blogs.discovermagazine.com]
  • Although it is commonly taught as an example of a dominant inherited trait, [2] [3] there are no scientific studies to support this. [4] [5] Etymology [ edit ] The term stems from the belief that hair growing to a point on the forehead – suggestive of[en.wikipedia.org]
Hypertelorism
  • Wide spacing also explains the association between ocular hypertelorism – that is, the eyes being abnormally far apart – and widow's peak ; this was suggested by findings in an unusual case of ocular hypertelorism in which surrounding scalp-hair growth[liquisearch.com]
  • McKusick, OMIM, Johns Hopkins University, March 4, 2008 [for Professionals mainly] Gene Map Locus: Xp11.21 - Aarskog (1970) described an X linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal[ibis-birthdefects.org]
  • As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[nature.com]
  • Ocular hypertelorism might be noted. On examination a bony prominence may be present.[radiopaedia.org]
  • For example, facial reconstructive procedures can reduce the visible effects of facial abnormalities including blepharoptosis, cleft lip and ocular hypertelorism.[pfond.cmmt.ubc.ca]
Cleft Lip and-or Palate
  • Cleft Lip and Cleft palate ( picture )( picture ) Cleft lip and Cleft palate are birth defects that affect the upper lip and roof of the mouth (respectively) that occur when the tissue of the palate and the lip do not form properly (10,11).[pfond.cmmt.ubc.ca]
  • Speech therapy is recommended as most individuals with the disorder have a cleft lip or cleft palate. Individuals with intellectual disabilities or lowered mental capacity, usually receive neuropsychological and educational support.[dovemed.com]
  • Other features are cleft lip and cleft palate. [2] Ophthalmological findings include strabismus, ophthalmoplegia, large cornea, esotropia, nystagmus, and amblyopia. [3] Dental findings include delayed eruption of permanent teeth, retarded dental age,[jmgims.co.in]
  • Unilateral or bilateral cleft lip and/or palate is present in approximately 50% of affected individuals.[ncbi.nlm.nih.gov]
  • It is caused by heterozygous mutations in the MLL2 gene (12q12-q14). 9 BCDS is also a rare autosomal-dominant disorder characterized by upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth.[reviewofophthalmology.com]
Waardenburg Syndrome
  • Other genetic syndromes occasionally associated with widow's peaks include Waardenburg syndrome and Aarskog syndrome. A study of females conducted by Nusbaum and Fuentefria in 2009 found that 81% had a widow's peak.[liquisearch.com]
  • Associations Aarskog syndrome Opitz syndrome Waardenburg syndrome frontonasal dysplasia craniofrontonasal dysplasia Prominent V-shaped hairline projection. Ocular hypertelorism might be noted. On examination a bony prominence may be present.[radiopaedia.org]
  • syndrome and Aarskog syndrome. [14] A study of women conducted by Nusbaum and Fuentefria in 2009 found that 81% had a widow's peak, [4] but it is unclear what their criteria were in this study; [4] Smith and Cohen's 1973 study on male medical students[en.wikipedia.org]
Chin Dimples
  • Dimples Freckles PTC testing Polydactyly Bent little finger Nearsightedness Mid-digit hair 13 14 Frequency of Dominant Alleles Dominant alleles are not necessarily more common in populations than recessive alleles For example, one baby out of 400 in[slideplayer.com]
Poor Coordination
  • […] healing resulting in elongated scarring (cigarette paper scars) Joint hypermobility Increased propensity for joint subluxations/disclocations Muscle weakness Delayed motor development Easy bruising Fatigue Frequent clumsiness Gait defects Frequent falls Poor[physio-pedia.com]

Workup

  • Differential Diagnosis The differential diagnosis for FASD includes a variety of chromosomal abnormalities, exposure to other teratogens, and behavioral and psychiatric diagnoses ( Table 4 ). 2, 22 – 28 If the diagnosis is uncertain, the workup should[aafp.org]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Treatment: In some cases, nystagmus is asymptomatic and does not need to be treated. However when objects in the field appear to oscillate (oscillopsia) and result in blurred vision, there are multiple treatment options.[pfond.cmmt.ubc.ca]
  • They can then give you a realistic prognosis about what treatment could potentially be able to do for you. They can also give you recommendations for hair loss treatment courses tailored to your specific needs.[belgraviacentre.com]
  • Treatment is typically limited to correcting any abnormalities.[ask4healthcare.com]
  • Potential treatments include early intervention; alternative therapies involving a wide range of theories and treatment practices which parents should discuss with their doctors; occupational therapy that facilitates the development of fine motor skills[thebetterindia.com]

Prognosis

  • Prognosis ... ________________________________________________________________________________________________ Last Updated: 2008/06/10 ________________________________________________________________________________________________[ibis-birthdefects.org]
  • Outlook (Prognosis) Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.[dxline.info]

Etiology

  • What are some environmental etiologies? Viruses, drugs, chemicals, radiation, maternal diabetes. What are some genetic etiologies? Chromosomal aberrations or gene mutations. What are perinatal infections? Passed from mother to baby.[brainscape.com]
  • (Etiology) X-linked Opitz G/BBB Syndrome is caused by a mutation on the MID1 gene of the X chromosome. In males, when the mutation is inherited, they will have the disorder because they only have one copy of the x chromosome.[dovemed.com]
  • Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies.[reviewofophthalmology.com]

Epidemiology

  • Here we review the genetic aspects of Brugada syndrom with a breif overview of epidemiology, diagnosis and management system.[actamedicainternational.com]
  • As such there is information and no consensus in the published literature regarding the epidemiological statistics.[wikivisually.com]
  • Consequently, clinically based epidemiological studies that estimate a high prevalence of AAS need to be considered with caution as diagnostic confusion could account for ascertainment bias. 11 In addition, it has been reported that some degree of cognitive[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • At least seven genes have been identified to associate with its occurrence though the detail pathophysiological mechanism is till to be resolved.[actamedicainternational.com]

Prevention

  • The Belgravia Centre is an organisation specialising in hair growth and hair loss prevention with two clinics and in-house pharmacies in Central London, UK.[belgraviacentre.com]
  • Reprinted with permission from FAS Diagnostic & Prevention Network.[aafp.org]
  • As it is an inherited disease, there are no prevention methods after birth. What to expect (Outlook/Prognosis) Some people may have mild degrees of mental slowness, but affected children usually have good social skills.[wikidoc.org]
  • The structures could be normal, but an external force prevented it. Never is normal. Secondary destruction of an organ. Breakdown of a PREVIOUSLY NORMAL structure. A cascade of anomalies triggered by one thing.[brainscape.com]
  • How can Opitz G/BBB Syndrome be Prevented? Opitz G/BBB Syndrome is a genetically inherited disorder.[dovemed.com]

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