Test Page – inner-discoveries

Amputation or congenital absence of 2 limbs

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Step 1

Is it hard to move around without help because two of your big body parts like arms or legs are missing or were never there when you were born?: Yes No

Step 2

Do you need special tools or equipment, like a wheelchair, to help you go from place to place?: Yes No

Step 3

Is it tough to do everyday things by yourself, like eating, getting dressed, or going to the bathroom?: Yes No

Step 4

Do you need help with carrying things because you don't have two arms or two legs?: Yes No

Step 5

Is it hard to join in activities or sports that need you to use your arms or legs?: Yes No

Step 6

Do you find it difficult to keep your balance or to stand up straight?: Yes No

Step 7

Is it tough to reach high or low places without help?: Yes No

Step 8

Do you find you need more time than others to do simple tasks because you're missing two big body parts like arms or legs?: Yes No

Step 9

Is it hard to go up and down stairs, or get on and off of chairs or beds, by yourself?: Yes No

Step 10

Do you feel you need to rely on other people a lot for things like shopping, cooking, or taking care of yourself?: Yes No

Deafblindness

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Step 1

Is it really hard to see things, even when they're close by, and also tough to hear what people are saying?: Yes No

Step 2

Is it difficult to know what's happening around you because it's hard to see and hear at the same time?: Yes No

Step 3

Do you need help to walk around safely in places that are new or unfamiliar because you can't see or hear well?: Yes No

Step 4

Is it hard to recognize friends or family by looking at their faces or hearing their voices?: Yes No

Step 5

Do you need to touch things to understand what they are, because it's hard to see and hear them?: Yes No

Step 6

Is it really hard to communicate with people because you can't see their lips move or hear what they're saying?: Yes No

Step 7

Do you have trouble enjoying things like books or movies because it's hard to see and hear them?: Yes No

Step 8

Is it difficult to participate in games or sports because you can't see who's on your team or hear what's going on?: Yes No

Step 9

Do you have a hard time knowing when it's day or night because it's hard to see the light and hear the sounds around you?: Yes No

Step 10

Is it tough to be aware of dangers, like a car coming or someone calling your name, because you can't see or hear well?: Yes No

Permanent bilateral hearing loss > 90 decibels in the better ear

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Step 1

Is it hard to hear what people say, even when they're close by and speaking loudly?: Yes No

Step 2

Is it difficult to understand words when there is background noise, like a TV playing or people talking?: Yes No

Step 3

Do you often ask people to repeat what they say because it's hard to hear them the first time?: Yes No

Step 4

Is it hard to hear high-pitched sounds, like a doorbell or birds chirping?: Yes No

Step 5

Is it tough to hear the phone ring, even when it's close by?: Yes No

Step 6

Is it hard to follow along with conversations that involve more than two people?: Yes No

Step 7

Do you find it difficult to hear in places where sounds echo, like a hallway or a big room?: Yes No

Step 8

Have you ever been close to loud sounds or noises and then noticed it's harder to hear afterward?: Yes No

Step 9

Do you find it easier to understand people when you're looking at their faces compared to when your back is turned?: Yes No

Step 10

Do you often turn the volume on the TV or radio way up, but still find it hard to hear?: Yes No

Combination of Visual Defects

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Step 1

Is it hard to see things clearly, even if they are right in front?: Yes No

Step 2

Is there a struggle to read words in books or on screens, even with glasses on?: Yes No

Step 3

Does it feel like looking through foggy glass, making everything seem blurry or cloudy?: Yes No

Step 4

Are colors hard to tell apart or do they seem less bright than they used to?: Yes No

Step 5

Is it hard to see at night or in places that are not very bright?: Yes No

Step 6

Is there trouble seeing things that are far away, like road signs or the TV?: Yes No

Step 7

Is there trouble seeing things up close, like the words in a book or a phone screen?: Yes No

Step 8

Does it feel like there are dark spots or lines that block part of the view?: Yes No

Step 9

Is there difficulty in recognizing faces of people, even if they are close by?: Yes No

Step 10

Is it necessary to squint the eyes or hold things at a certain angle to see them better?: Yes No

Visual Field Constriction

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Step 1

Is it hard to see things that are not right in front, like they're hiding just out of sight?: Yes No

Step 2

Does it feel like looking through a tube or a toilet paper roll?: Yes No

Step 3

Is there trouble noticing things or people coming from the sides?: Yes No

Step 4

Is there bumping into stuff or tripping over things more than seems normal?: Yes No

Step 5

Is it easy to miss something that isn't directly in front, like it's invisible?: Yes No

Step 6

Is there difficulty in finding things when they are not right in the middle of where you're looking?: Yes No

Step 7

Is it necessary to turn the head a lot to see things that are just a little bit to the side?: Yes No

Step 8

Is it tough to enjoy looking at big things like a sunset or a big screen because it's hard to see it all at once?: Yes No

Step 9

Is there a need to move things around to get them into that small space where you can see them?: Yes No

Step 10

Is there trouble with games or activities that need you to see things all around you?: Yes No

Visual Acuity

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Step 1

Is it really hard to see things that are far away, even when squinting?: Yes No

Step 2

Is it tough to read signs or see faces, even when they're not that far?: Yes No

Step 3

Does it feel like looking through a foggy window all the time?: Yes No

Step 4

Are colors hard to tell apart, like everything looks kinda the same?: Yes No

Step 5

Is it hard to see at night or in places that are a bit dark?: Yes No

Step 6

Is it tricky to see little details, like words in a book or shapes in a picture?: Yes No

Step 7

Do straight lines look wavy or bent, like they're dancing?: Yes No

Step 8

Does it take a long time for eyes to get used to bright light or going from light to dark?: Yes No

Step 9

Is there a need to get really close to the TV, computer, or phone screen to see what's going on?: Yes No

Step 10

Is it hard to do things that need good eyes, like threading a needle or catching a ball?: Yes No

Hemiplegia

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Step 1

Is it hard to move one side of the body, like it's stuck or doesn't want to listen?: Yes No

Step 2

Does one hand have a tough time picking up or holding things?: Yes No

Step 3

Does one leg find it really hard to walk, almost like it's dragging behind?: Yes No

Step 4

Is it hard to feel anything when touching stuff with one hand or one foot?: Yes No

Step 5

Does one side of the face have trouble moving, like it's really hard to smile or blink?: Yes No

Step 6

Is it difficult to dress, especially using one hand or one foot?: Yes No

Step 7

Is there any trouble with doing things that need both hands, like tying a shoe or opening a jar?: Yes No

Step 8

Is it hard to sit up straight without leaning to one side?: Yes No

Step 9

Does the body feel uneven when trying to do something like climbing stairs or jumping?: Yes No

Step 10

Is it tough to turn over in bed or get up without using one side of the body?: Yes No

Spinal cord injury or brain injury resulting in paraplegia, quadriplegia, or tetraplegia

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Step 1

Is it really hard to move the legs or arms, like they're stuck in place?: Yes No

Step 2

Is there no feeling in the fingers or toes when something touches them?: Yes No

Step 3

Is lifting something as light as a fork or spoon almost impossible?: Yes No

Step 4

Is there any trouble with going to the bathroom, like not knowing when it's time to go?: Yes No

Step 5

Is breathing so hard that sometimes help is needed from a machine?: Yes No

Step 6

Is eating and drinking hard because it's tough to swallow?: Yes No

Step 7

Is speaking clearly really difficult, like the words just don't come out right?: Yes No

Step 8

Does it feel like the body can't tell hot from cold, like not knowing if the bath water is too hot?: Yes No

Step 9

Is it really hard to sit or stand up straight without leaning or falling over?: Yes No

Step 10

Is it tough to move around in bed, like rolling over or sitting up, without help?: Yes No

X-linked spinal muscular atrophy

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Step 1

Is it tough to sit up straight without help, like needing to lean on something or someone for support?: Yes No

Step 2

Is it hard to stand without grabbing onto something nearby because the legs don't feel strong enough?: Yes No

Step 3

Does it seem like there's a lot of tumbling or falling down, especially when trying to walk or run?: Yes No

Step 4

Do the arms and legs look slimmer, like they're not as strong or full as they used to be?: Yes No

Step 5

Is lifting even light things, like a glass of water or a piece of paper, really hard?: Yes No

Step 6

Is kicking a soft ball or pushing something along the ground tough? Like the legs just can't do it easily?: Yes No

Step 7

Is climbing steps or getting onto a higher place, like a chair or bed, really tricky?: Yes No

Step 8

Is breathing harder after doing simple activities? Like feeling out of breath after just a little movement.: Yes No

Step 9

Is talking sometimes not very clear? Like the words don't come out right or strong enough?: Yes No

Step 10

Is eating, especially chewing food, taking a long time? It might seem hard to bite or chew the food into small enough pieces.: Yes No

Dubowitz disease

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Step 1

Is there trouble sitting up without help? Like needing to lean on something or someone?: Yes No

Step 2

Is standing up without holding onto something really hard? The legs might feel too weak to keep you upright.: Yes No

Step 3

Is there a lot of falling down while trying to walk or stand? It's like the legs just don't want to keep you up.: Yes No

Step 4

Are the arms or legs looking thinner than usual? Like they're not as full or strong as they once were.: Yes No

Step 5

Is lifting up things like a cup or book hard? It might feel too heavy, even if it's not.: Yes No

Step 6

Is it hard to kick a ball or do other things with your legs? Even a light ball might feel too heavy to kick.: Yes No

Step 7

Is climbing stairs or getting onto a chair really tough? It's like needing extra help to get up high.: Yes No

Step 8

Is breathing sometimes hard, especially after moving around a lot? It might feel like running out of breath really quick.: Yes No

Step 9

Is talking sometimes unclear? The words might come out muffled or not as loud as they should be.: Yes No

Step 10

Is chewing food taking a long time or seem hard? It might feel tough to break down the food into smaller pieces.: Yes No

Werdnig-Hoffmann disease

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Step 1

Is there floppy-like movement in arms and legs? They might seem like cooked spaghetti, not holding up very well.: Yes No

Step 2

Is it hard to do things like holding up the head? It might wobble or fall forward or backward a lot.: Yes No

Step 3

Is breathing sometimes shallow or uneven? It might look like the chest and tummy aren't moving much when taking a breath.: Yes No

Step 4

Is swallowing hard? It could look like coughing or spluttering during or after eating.: Yes No

Step 5

Is sucking (like on a bottle or pacifier) weak or not working well?: Yes No

Step 6

Does the tongue twitch or move in odd ways? It might look like little jumps or wiggles when sticking out the tongue.: Yes No

Step 7

Is coughing very weak or almost not there? Even when trying to clear the throat, it might not sound strong.: Yes No

Step 8

Are smiles or laughs not showing up even when funny or happy things happen?: Yes No

Step 9

Are noises like grunting or groaning heard instead of clear sounds or words?: Yes No

Step 10

Is there less kicking or squirming than other kids of the same age, especially as a tiny baby?: Yes No

Rett syndrome

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Step 1

Is there a lot of hand-washing or hand-wringing? This might look like rubbing the hands together over and over.: Yes No

Step 2

Has there been a change in how talking and communication happen? Like maybe talking less or not at all when it used to be okay?: Yes No

Step 3

Is there trouble with walking or moving around? Legs and feet might not listen as well as they should.: Yes No

Step 4

Are there problems using hands for simple things like holding a spoon, tying shoes, or playing catch?: Yes No

Step 5

Is there trouble connecting with people? For example, not smiling back when someone smiles or not looking when someone points at something?: Yes No

Step 6

Is there less interest in fun games, events or even people?: Yes No

Step 7

Does the head seem smaller than it should be, not growing well?: Yes No

Step 8

Is breathing weird sometimes? Like breathing really fast and then really slow?: Yes No

Step 9

Are there shakes or jerky movements that weren't there before?: Yes No

Step 10

Do feet move in an odd way, like walking on tippy-toes a lot?: Yes No

Patau syndrome

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Step 1

Is there an extra finger or toe on the hands or feet, making it more than 10 fingers or toes in total?: Yes No

Step 2

Does the head look smaller than other kids or grown-ups? Not just a bit but a lot smaller.: Yes No

Step 3

Is it really hard to grow big and tall even though eating enough? Like being a lot shorter or smaller than friends.: Yes No

Step 4

Are there strange openings, like holes, in the middle of hands or the bottom of feet?: Yes No

Step 5

Inside the mouth, is the roof not all there or is it shaped in a way that's not like a smooth hill?: Yes No

Step 6

Are the eyes placed extra close together or far apart, not like most people you know?: Yes No

Step 7

Is it really tough to eat food and keep it down, like it comes back up or causes tummy trouble often?: Yes No

Step 8

Is it hard to hear things even when they are loud? Like missing what people say a lot.: Yes No

Step 9

Is seeing things clearly difficult? Like things look blurry or colors look different?: Yes No

Step 10

Is it really hard to breathe, like feeling out of breath when not doing much?: Yes No

Osteogenesis Imperfecta: Type II

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Step 1

Is it easy to get a break in the bones, like more than two times a year?: Yes No

Step 2

Is it hard to do everyday things like getting dressed or eating food?: Yes No

Step 3

Do arms, legs, or other parts of the body look bent or not straight?: Yes No

Step 4

Is it hard to walk around without feeling wobbly or falling?: Yes No

Step 5

Is it tough to hold onto things tightly, like a cup or a pencil?: Yes No

Step 6

Is there pain in the bones that doesn't go away?: Yes No

Step 7

Are teeth chipping or breaking easily?: Yes No

Step 8

Is it hard to lift things up, even if they're not very heavy?: Yes No

Step 9

Is it tough to turn, bend, or twist without feeling something's not right?: Yes No

Step 10

Is the skin super thin or easy to bruise?: Yes No

MPS III (San Filippo syndrome)

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Step 1

Is there trouble with remembering things, like names or what was just said?: Yes No

Step 2

Is it hard to sit still and listen for a long time?: Yes No

Step 3

Is it difficult to speak in a way that other people can understand?: Yes No

Step 4

Is the belly area bigger than for most people?: Yes No

Step 5

Is there trouble with seeing things, like words on a screen or faces?: Yes No

Step 6

Are there any times when the arms or legs move on their own without trying to move them?: Yes No

Step 7

Is it hard to use hands for picking up small things, like a spoon or a button?: Yes No

Step 8

Is it harder to run, walk, or climb stairs than for most people?: Yes No

Step 9

Is it tough to sleep through the whole night without waking up lots of times?: Yes No

Step 10

Is there trouble hearing, even when people are talking clearly and not too far away?: Yes No

MPS 1-H (Hurler syndrome)

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Step 1

Is it hard to move arms and legs as freely as other people?: Yes No

Step 2

Is there trouble with seeing things clearly, like words in a book or faces?: Yes No

Step 3

Is there trouble hearing what people say even when they are close by?: Yes No

Step 4

Is the belly area bigger than it is for most people?: Yes No

Step 5

Is it harder to run or climb stairs than for most people?: Yes No

Step 6

Is it hard to breathe sometimes, even when just sitting or lying down?: Yes No

Step 7

Are the fingers shaped in a way that makes it hard to hold things?: Yes No

Step 8

Does the face look different from most people in a way that others notice?: Yes No

Step 9

Is the skin or the whites of the eyes a different color, like a bit yellow?: Yes No

Step 10

Is there trouble with speaking clearly or saying what is on the mind?: Yes No

Tay-Sachs disease

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Step 1

Is there a problem with seeing things, like everything is dark or cloudy?: Yes No

Step 2

Does the body feel floppy, like a soft pillow?: Yes No

Step 3

Is there trouble hearing sounds or voices, like everything is really quiet?: Yes No

Step 4

Is it hard to grab things or hold on to them?: Yes No

Step 5

Is there a lot of crying or noises, even when everything seems okay?: Yes No

Step 6

Is it hard to move the arms and legs, like they're stuck in one place?: Yes No

Step 7

Are there times when the body shakes or jumps a lot?: Yes No

Step 8

Does it feel like it's hard to breathe, like after running fast?: Yes No

Step 9

Is it tough to eat or drink without spilling or coughing?: Yes No

Step 10

Does the head look bigger than it used to, like it's growing too fast?: Yes No

Schindler disease

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Step 1

Is it hard to lift things like a spoon or a cup?: Yes No

Step 2

Does the belly feel hard and big, like a balloon?: Yes No

Step 3

Is it tricky to walk in a straight line, like wobbling or stumbling?: Yes No

Step 4

Is there trouble seeing things clearly, like they're blurry or far away?: Yes No

Step 5

Are there times when it's hard to understand what people are saying?: Yes No

Step 6

Does the face look puffy or swollen, like after waking up?: Yes No

Step 7

Is it hard to use the hands for simple things like buttoning a shirt?: Yes No

Step 8

Does it feel like the legs are very weak, like they don't want to move?: Yes No

Step 9

Is it hard to remember names or what happened yesterday?: Yes No

Step 10

Do the arms and legs feel tingly, like when a foot falls asleep?: Yes No

Sandhoff disease

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Step 1

Is there trouble holding up the head, like it feels too heavy?: Yes No

Step 2

Does the body shake a lot when trying to do something, like reaching for a cup?: Yes No

Step 3

Does it feel hard to breathe, even when sitting or lying down?: Yes No

Step 4

Does the belly look bigger and harder than it should be?: Yes No

Step 5

Are the eyes moving in ways they shouldn't, like up and down or side to side without wanting them to?: Yes No

Step 6

Is it hard to grab things or hold on to them, like they keep slipping away?: Yes No

Step 7

Is there more drooling than normal, like saliva keeps coming out?: Yes No

Step 8

Do the arms and legs feel super stiff, like they don't want to bend?: Yes No

Step 9

Is it really hard to turn the body or change positions, like going from sitting to standing?: Yes No

Step 10

Is it tough to focus on things or people, like the mind keeps wandering?: Yes No

Pompe disease

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Step 1

Is there trouble with lifting things or getting up from a sitting position?: Yes No

Step 2

Do legs or arms feel really weak, like they can't hold up the body well?: Yes No

Step 3

Is it hard to take deep breaths or does breathing feel really, really slow?: Yes No

Step 4

Does the tummy look bigger or feel harder than what's normal?: Yes No

Step 5

Is it hard to chew or swallow food, like it gets stuck sometimes?: Yes No

Step 6

Does speaking sound different, maybe softer or not as clear as before?: Yes No

Step 7

Is it tough to run or move quickly, like feeling stuck in slow motion?: Yes No

Step 8

Does the heart sometimes feel like it's beating super, super fast for no reason?: Yes No

Step 9

Do arms or legs feel stiff or not bend easily, making it hard to move?: Yes No

Step 10

Is there a feeling of being really tired all the time, even after resting or sleeping?: Yes No

Niemann-Pick disease (Types A and C)

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Step 1

Is there trouble standing straight or walking without falling over a lot?: Yes No

Step 2

Is there a hard time keeping hands steady, like when trying to pick up a glass of water?: Yes No

Step 3

Are there moments when the eyes seem to move on their own, going side to side or up and down?: Yes No

Step 4

Is there lots of coughing or choking, even when not eating or drinking?: Yes No

Step 5

Is there often a feeling of being really, really tired, even after a good sleep?: Yes No

Step 6

Are there any big changes in how things taste or smell?: Yes No

Step 7

Is it tough to understand people when they talk or make yourself understood?: Yes No

Step 8

Are there moments of being really forgetful, like not remembering names or what was just said?: Yes No

Step 9

Is it difficult to focus on something, like getting lost in the middle of a sentence or activity?: Yes No

Step 10

Are there times when there's a sudden feeling of sadness or fear for no reason?: Yes No

Gaucher disease Types 2 and 3

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Step 1

Is it hard to keep the head still, like it wobbles or leans to one side a lot?: Yes No

Step 2

Is there trouble moving arms or legs easily, like they feel really heavy or stuck?: Yes No

Step 3

Are there lots of times when feeling really, really sad or crying more than usual?: Yes No

Step 4

Is it tough to eat or drink things without spilling, choking, or feeling like it's stuck?: Yes No

Step 5

Is it hard to look at something and keep looking at it, like the eyes just wander away?: Yes No

Step 6

Is it hard to hold onto things like a spoon or a cup without dropping it?: Yes No

Step 7

Is it tricky to talk clearly, like words are hard to say or sound funny?: Yes No

Step 8

Is there trouble staying awake or feeling really sleepy when it's not bedtime?: Yes No

Step 9

Do hands or feet sometimes look like they're a different color, maybe bluish or really, really pale?: Yes No

Step 10

Is there a hard time understanding people when they talk or a hard time making them understand you?: Yes No

Pelizaeus-Merzbacher Disease (Connatal form)

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Step 1

Is there a hard time keeping the head up without it wobbling or falling down?: Yes No

Step 2

Do the arms and legs feel so stiff that moving them around is not easy?: Yes No

Step 3

Is there lots of crying or feeling sad more than what is usually seen?: Yes No

Step 4

Is eating or drinking not going smoothly? Like food or drink gets stuck or doesn't go down right?: Yes No

Step 5

Is it hard to focus on people or things, like eyes just wander off?: Yes No

Step 6

Is it a struggle to follow things with the eyes, like when a ball rolls across the floor?: Yes No

Step 7

Do the hands or feet sometimes look like they're a different color, like maybe a bit blue or really pale?: Yes No

Step 8

Is there shaking in the hands or feet that can't be stopped?: Yes No

Step 9

Is it hard to stay awake or keep eyes open, even when it's daytime and not nap time?: Yes No

Step 10

Are things that used to be easy to do now hard or can't be done at all?: Yes No

Krabbe disease (globoid cell leukodystrophy) – Infantile form

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Step 1

Is it hard to keep the head steady and upright without help?: Yes No

Step 2

Do the arms and legs seem unusually stiff or hard to move?: Yes No

Step 3

Is there more upset and crying than what seems usual?: Yes No

Step 4

Is it challenging to swallow food or drink, like something is stuck?: Yes No

Step 5

Is there a lack of interest in looking at or focusing on people or things around?: Yes No

Step 6

Is it hard to follow things that move, like a rolling ball, with the eyes?: Yes No

Step 7

Do the hands or feet appear to change color, like looking blue or pale?: Yes No

Step 8

Is there noticeable shaking or trembling in any part of the body?: Yes No

Step 9

Is staying awake and alert a struggle, even when it's time to be active?: Yes No

Step 10

Have simple tasks, once done with ease, become difficult or not doable?: Yes No

Canavan disease

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Step 1

Is the head bigger than usual?: Yes No

Step 2

Is it hard to move arms or legs?: Yes No

Step 3

Is there a lot of crying or fussing?: Yes No

Step 4

Is it tough to grab things?: Yes No

Step 5

Is there a wobbly walk or crawl?: Yes No

Step 6

Is there any trouble seeing things?: Yes No

Step 7

Does food come back up after eating?: Yes No

Step 8

Is it hard to make different sounds or talk?: Yes No

Step 9

Is it hard to stay awake or pay attention?: Yes No

Step 10

Is there often shaking or trembling?: Yes No

Alexander disease (infantile and neonatal forms)

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Step 1

Is there trouble holding the head up?: Yes No

Step 2

Is moving eyes to look around hard?: Yes No

Step 3

Is there lots of crying or being upset?: Yes No

Step 4

Is it hard to eat or swallow food?: Yes No

Step 5

Is there a need for help to sit or stand?: Yes No

Step 6

Is walking or crawling tough?: Yes No

Step 7

Is there shaking in the arms or legs?: Yes No

Step 8

Is breathing fast or noisy?: Yes No

Step 9

Is talking or making sounds hard?: Yes No

Step 10

Is there often being very tired or sleepy?: Yes No

Leigh syndrome

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Step 1

Is there trouble with moving eyes to look at things?: Yes No

Step 2

Is there a hard time holding up the head?: Yes No

Step 3

Is it hard to walk or do simple steps?: Yes No

Step 4

Is there a need for help to eat or drink?: Yes No

Step 5

Is there lots of being tired or needing to rest?: Yes No

Step 6

Is there often being upset or feeling bad?: Yes No

Step 7

Is speaking or making sounds hard?: Yes No

Step 8

Is it hard to keep balanced when sitting or standing?: Yes No

Step 9

Is there shaking or moving in ways that can't be controlled?: Yes No

Step 10

Is breathing noisy or looks hard?: Yes No

Lesch-Nyhan syndrome

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Step 1

Is there a need to bite or pick at the skin or lips?: Yes No

Step 2

Is it hard to use hands for tasks like holding or picking up things?: Yes No

Step 3

Is there trouble sitting still?: Yes No

Step 4

Is there a yellow color in the eyes or skin?: Yes No

Step 5

Is walking or moving around hard?: Yes No

Step 6

Are there red or pink spots in the diaper area?: Yes No

Step 7

Is there a lot of spit or drool?: Yes No

Step 8

Is it hard to talk or say words clearly?: Yes No

Step 9

Is there pain when going to the bathroom?: Yes No

Step 10

Is there often throwing up or feeling sick?: Yes No

Herlitz Junctional Epidermolysis Dystrophica

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Step 1

Is the skin quick to get blisters from light touch?: Yes No

Step 2

Does it take a long time for a cut or scrape to heal?: Yes No

Step 3

Are there spots on the skin that look lighter or darker?: Yes No

Step 4

Is the skin easy to rip or tear?: Yes No

Step 5

Do the nails look different or wrong?: Yes No

Step 6

Do sores in the mouth happen often?: Yes No

Step 7

Are there teeth or gum problems?: Yes No

Step 8

Is the skin itchy or does it turn red a lot?: Yes No

Step 9

Do scars or marks show up easily?: Yes No

Step 10

Is it hard to move or do the fingers or toes look bent?: Yes No

Hallopeau-Siemens type

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Step 1

Is the skin quick to get blisters or sores from light touch or bumps?: Yes No

Step 2

Does it take a long time for cuts or scrapes to heal?: Yes No

Step 3

Are there small white spots on the skin?: Yes No

Step 4

Is the skin easy to rip or tear?: Yes No

Step 5

Are the nails on fingers or toes not looking normal?: Yes No

Step 6

Do mouth sores happen often?: Yes No

Step 7

Are there problems with teeth, like holes or gum issues?: Yes No

Step 8

Does the skin feel itchy or get red easily?: Yes No

Step 9

Does the skin mark or scar easily, even from small injuries?: Yes No

Step 10

Is it hard to move around or are the fingers and toes not straight?: Yes No

Autosomal recessive dystrophic epidermolysis bullosa

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Step 1

Is the skin very sensitive and prone to damage?: Yes No

Step 2

Is there trouble eating or drinking because of sores in the mouth or throat?: Yes No

Step 3

Do small injuries lead to large sores that take a long time to heal?: Yes No

Step 4

Is there a lot of scarring or hard skin on the hands or feet?: Yes No

Step 5

Is it painful to move fingers or toes?: Yes No

Step 6

Is the hair falling out or are there bald patches?: Yes No

Step 7

Do fingernails or toenails look different or fall off?: Yes No

Step 8

Does the skin look different around the eyes or mouth?: Yes No

Step 9

Is there a problem with seeing or hearing?: Yes No

Step 10

Is it hard to run, jump, or move alot because the skin gets hurt easily?: Yes No

Edwards syndrome (Trisomy 18 – full form)

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Step 1

Is it hard to wake up or pay attention?: Yes No

Step 2

Is it hard to move fingers or hands in different ways?: Yes No

Step 3

Are there any unusual shapes or bends in the fingers or toes?: Yes No

Step 4

Are there issues with breathing or keeping a steady breath?: Yes No

Step 5

Is eating or swallowing a struggle?: Yes No

Step 6

Does the head seem smaller than usual?: Yes No

Step 7

Are the eyes set far apart or close together?: Yes No

Step 8

Are there any areas on the skin that look different or stand out?: Yes No

Step 9

Does the mouth seem small or are there issues with the jaw?: Yes No

Step 10

Is it hard to stay awake or alert?: Yes No

Cri du Chat syndrome

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Step 1

Is there a cat-like sound when crying or expressing discomfort?: Yes No

Step 2

Is it hard to say words clearly?: Yes No

Step 3

Is there trouble with understanding or using spoken words?: Yes No

Step 4

Is it tough to learn new things?: Yes No

Step 5

Are there times of being very upset for no clear reason?: Yes No

Step 6

Is there trouble with moving hands and legs as wanted?: Yes No

Step 7

Is it hard to eat food without making a mess?: Yes No

Step 8

Is it hard to focus on one thing for a long time?: Yes No

Step 9

Is there a need for help with daily activities like dressing and eating?: Yes No

Step 10

Is it easy to get sick?: Yes No

Cornelia de Lange syndrome

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Step 1

Is it hard to grow tall?: Yes No

Step 2

Is there trouble with speaking clearly?: Yes No

Step 3

Are there often tummy aches or eating problems?: Yes No

Step 4

Is it tough to use hands or fingers?: Yes No

Step 5

Is learning new things difficult?: Yes No

Step 6

Is it hard to hear or are ears often hurting?: Yes No

Step 7

Is there trouble sleeping at night?: Yes No

Step 8

Do the eyes look different?: Yes No

Step 9

Is there trouble making friends?: Yes No

Step 10

Are new places or changes hard to deal with?: Yes No

Coffin-Lowry Syndrome

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Step 1

Is learning new things hard?: Yes No

Step 2

Do fingers look bent or not straight?: Yes No

Step 3

Is talking clearly hard?: Yes No

Step 4

Can't sit still or pay attention well?: Yes No

Step 5

Growing slower than expected?: Yes No

Step 6

Hard to run or jump?: Yes No

Step 7

Tough to hold things?: Yes No

Step 8

Does the face look different than usual?: Yes No

Step 9

Hard to hear or ears hurt often?: Yes No

Step 10

Teeth taking a long time to show up?: Yes No

Angelman Syndrome

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Step 1

Is there a lot of smiling and laughing, even when it might not seem to fit the moment?: Yes No

Step 2

Is it hard to speak or say more than a few words?: Yes No

Step 3

Is there trouble keeping balance, like wobbling when walking?: Yes No

Step 4

Are arms and hands moving in the same way again and again?: Yes No

Step 5

Is it hard to sleep through the night, waking up a lot?: Yes No

Step 6

Is there a love for water or shiny things, like always wanting to play with them?: Yes No

Step 7

Is it tough to pay attention for a long time?: Yes No

Step 8

Is it hard to chew food or drink without making a mess?: Yes No

Step 9

Is there difficulty in understanding rules or safety, like not knowing that a stove is hot?: Yes No

Step 10

Are there problems with using the bathroom on time?: Yes No

Cerebral Palsy

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Step 1

Is it really hard to move arms or legs?: Yes No

Step 2

Is there a need for help to sit up or stand?: Yes No

Step 3

Are there times when muscles feel too tight or too loose?: Yes No

Step 4

Is it difficult to pick up and hold onto small things?: Yes No

Step 5

Is there trouble with balance, often falling or needing to hold onto something?: Yes No

Step 6

Is talking clearly a challenge?: Yes No

Step 7

Is there a need for special tools to help with moving or daily tasks?: Yes No

Step 8

Is eating or drinking without spilling hard to do?: Yes No

Step 9

Is there difficulty in doing things that need both hands, like tying shoes or opening a bottle?: Yes No

Step 10

Is more time needed than others to get ready in the morning or to do things?: Yes No