Resources on physical characteristics Under this topic, I'm collecting the various links related to physical characteristics of autism and conditions sometimes misdiagnosed as autism.  *** Dr. Peter Hammond is using 3D camera technology to try and identify 30 different conditions, including Asperger.  You can see prototypical facial features of a few conditions here: http://www.guardian.co.uk/science/2007/sep/10/2 http://www.guardian.co.uk/science/gallery/2007/sep/10/1 - Noonan http://www.guardian.co.uk/science/gallery/2007/sep/10/1?pict ure=330708224 - Smith Magenis http://www.guardian.co.uk/science/gallery/2007/sep/10/1?pict ure=330708227- Williams http://news.bbc.co.uk/2/hi/science/nature/6982030.stm - Williams minor dysmorphic features Mild superficial malformations; singly these dysmorphic characteristics are best considered normal variants or familial traits; the presence of several of these features may contribute to an overall appearance that is part of a specific syndrome. When no syndrome is identified, the presence of more than four minor dysmorphic features on a scale such as the Waldrop scale (developed by Mary Waldrop) is interpreted as suggesting a disturbance occurring during the first trimester of pregnancy and affecting the ectodermal layer of the embryo and contributing to mild abnormalities of ectodermal derivatives — hair, skin, and brain. Increased dysmorphology scores are associated with attention problems, hyperactivity, cognitive impairments, and the entire spectrum of neurodevelopmental disabilities. In the presence of a developmental diagnosis, a high minor malformation score provides support for a prenatal etiology (origin). Common minor dysmorphic features include abnormal hair whorl patterns, microcephaly (abnormally small head), macrocephaly (enlarged head circumference), epicanthal folds, pinna (external ear) anomalies (malformation, deformation, disruption, or dysplasia), high-arched or steepled palate, geographic tongue, clinodactyly (deflection of fingers), palmar crease abnormalities (e.g., simian crease, Sydney line), sandal gap deformity, and syndactyly (webbing of the fingers or toes). Source:  http://www.childrenwithchallenges.net/definitions/M.html Most people are right handed, and most people have a clockwise whorl.  I'm assuming you already know that, since you brought up the combination, but here's my source, an article that says handedness seems to follow the same genetic mechanism as hair whorls.  I think it's really kind of fascinating that a parent can predict their child's handedness based on whorl direction: http://www.genetics.org/cgi/reprint/165/1/269.pdf According to Wikipedia, it's the position of the hair whorl that's a sign of abnormality, not whether a person has one or two.  Wikipedia didn't give a source, but I checked Wrong Diagnosis, and unusual placement of hair whorls were mentioned as symptoms of Chromosome 2 Trisomy (central hair whorl),  MR -x-linked-12 (frontal hair whorl) and  Gonadal dysgenesis XY.  Double hair whorls were not mentioned as a symptom of anything. Here's a picture of a double whorl in opposite directions. http://www.nature.com/jid/journal/v122/n4/full/5602296a.html #fig1 Here are the signs of low muscle tone/hypotonia: 3. Poor Muscle Tone And/Or Coordination: __ has a limp, "floppy" body __ frequently slumps, lies down, and/or leans head on hand or arm while working at his/her desk __ difficulty simultaneously lifting head, arms, and legs off the floor while lying on stomach ("superman" position) __ often sits in a "W sit" position on the floor to stabilize body __ fatigues easily! __ compensates for "looseness" by grasping objects tightly __ difficulty turning doorknobs, handles, opening and closing items __ difficulty catching him/her self if falling __ difficulty getting dressed and doing fasteners, zippers, and buttons __ may have never crawled as an baby __ has poor body awareness; bumps into things, knocks things over, trips, and/or appears clumsy __ poor gross motor skills; jumping, catching a ball, jumping jacks, climbing a ladder etc. __ poor fine motor skills; difficulty using "tools", such as pencils, silverware, combs, scissors etc. __ may appear ambidextrous, frequently switching hands for coloring, cutting, writing etc.; does not have an established hand preference/dominance by 4 or 5 years old __ has difficulty licking an ice cream cone __ seems to be unsure about how to move body during movement, for example, stepping over something __ difficulty learning exercise or dance steps Source:  http://www.sensory-processing-disorder.com/sensory-processin g-disorder-checklist.html   Photos of some cute kids with the physical features of Chromosome 15q duplication syndrome (tip from PhoenixRising). http://www.idic15.org/dr_physicalchar.php NorwayMom40088.4531712963This article includes lots of photos and definitions of medical terms related to head and face characteristics.  It does NOT say that these characteristics are a sign of a genetic problem, but some of them clearly are. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778021/ Here are a couple more links about the location and number of hair whorls.  Four questions on double hair whorl, answered by a geneticist. http://genetics.emory.edu/ask/topic.php/11/Hair/202/Hair_Who rls "Scalp hair growth and patterning are closely associated with the development of the central nervous system."  This article focuses on examining an infants scalp to uncover potential problems at an early stage.  It says that a double hair whorl is a normal variant, occurring in 5% of individuals.  (The textbook "Physical diagnosis in neonatology" says that the LOCATION of the whorls or presence of more than two whorls is the main concern). http://journals.lww.com/advancesinneonatalcare/Abstract/2003 /12000/Scalp_Hair_Characteristics_in_the_Newborn_Infant.5.as px Research on hand and finger variations.  Although it's a palmistry website, they include references to medical research and best of all illustrations that explain the medical terminology. http://palmistryreport.wordpress.com/2009/01/24/palm-reading -the-pinkie-characteristics-of-the-little-finger-relate-to-a utism/ - curved pinky finger associated with autism. http://www.handresearch.com/diagnostics/simian-line.htm - Simian line/crease http://www.handresearch.com/news/the-sydney-line-fascinating -hand-crease-handmark.htm - Sydney line http://palmistryreport.wordpress.com/2009/01/29/famous-hands -the-hands-of-albert-einstein-iq-autism-left-handedness/ - Einstein's hands and the connection between autism and too-long ring finger. Today I found out that another medical term for this is stigma (plural stigmata). "any mental or physical mark or peculiarity that aids in identification or diagnosis of a condition" Other links on facial feature research: "In work soon to be published, Professor Hammond has also used the software to examine the facial characteristics of people with autism spectrum disorder and has identified unusual facial asymmetry in children with the condition." "These children are more likely to have a slight protrusion of the right temple, possibly reflecting a larger area of the brain known as the right frontal pole." Source:  http://news.bbc.co.uk/2/hi/science/nature/6982030.stm "The British research, published on September 10, is also expected to allow doctors to screen children as young as two years old for autistic spectrum disorders, such as Asperger's syndrome, boosting their chances of receiving appropriate care and treatment as early as possible."   Source:  http://www.autismconnect.org/news.asp?section=00010001& ;i temtype=news&id=6318
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