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KID Syndrome

Presentation

[3] Last updated: 12/12/2016 KID syndrome is present from birth. [rarediseases.info.nih.gov]

Entire Body System

  • Nail Abnormality

    […] dysplasia Atypical nail growth 0002164 Nail dystrophy Poor nail formation 0008404 Pes cavus High-arched foot 0001761 Recurrent corneal erosions Recurrent breakdown of clear protective layer of eye 0000495 Sparse and thin eyebrow Thin, sparse eyebrows [rarediseases.info.nih.gov]

Eyes

  • Photophobia

    Keratitis can lead to pain; sensitivity to light (photophobia); extra blood vessel growth (neovascularization); scarring; and progressive vision loss. [rarediseases.info.nih.gov]

  • Progressive Loss of Vision

    […] visual loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Reduced tendon reflexes 0001315 Severe global developmental [rarediseases.info.nih.gov]

  • Visual Impairment

    […] loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Reduced tendon reflexes 0001315 Severe global developmental delay [rarediseases.info.nih.gov]

Ears

  • Hearing Impairment

    Nearly all affected individuals have skin involvement and sensorineural deafness or severe hearing impairment. [rarediseases.info.nih.gov]

Skin

  • Skin Ulcer

    0000407 Skin ulcer Open skin sore 0200042 Sparse hair 0008070 30%-79% of people have these symptoms Alopecia Hair loss 0001596 Dystrophic fingernails Poor fingernail formation 0008391 Dystrophic toenail Poor toenail formation 0001810 Fine hair Fine hair [rarediseases.info.nih.gov]

  • Sparse Eyebrows

    […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis Ingrown eyelashes 0001128 Showing of 57 | Last updated: 7/1/2019 Making a diagnosis [rarediseases.info.nih.gov]

  • Sparse Eyelashes

    […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis Ingrown eyelashes 0001128 Showing of 57 | Last updated: 7/1/2019 Making a diagnosis [rarediseases.info.nih.gov]

  • Sparse to No Eyebrows

    […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis Ingrown eyelashes 0001128 Showing of 57 | Last updated: 7/1/2019 Making a diagnosis [rarediseases.info.nih.gov]

  • Thin Eyebrows

    eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis Ingrown eyelashes 0001128 Showing of 57 | Last updated: 7/1/2019 Making a diagnosis for [rarediseases.info.nih.gov]

Musculoskeletal

  • Decrease in Height

    […] ability to sweat Decreased sweating Sweating, decreased [ more ] 0000966 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Hypoplastic toenails Underdeveloped toenails 0001800 Palmoplantar keratoderma Thickening of palms [rarediseases.info.nih.gov]

  • Flexion Contracture

    contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Hyperkeratosis 0000962 Keratoconjunctivitis sicca Dry eyes 0001097 Knee flexion contracture 0006380 Nail dysplasia Atypical nail growth 0002164 Nail dystrophy Poor [rarediseases.info.nih.gov]

  • Fracture

    Increased production of parathyroid hormone by a benign parathyroid tumor can cause hypercalcemia, meaning high blood calcium, kidney stones, and osteoporosis, meaning the loss of bone mass causing fracture. [cancer.net]

  • Knee Pain

    Here are some signs that knee pain may be SLJ: pain at the front of the knee, near the bottom of the kneecap (this is the main symptom of SLJ) swelling and tenderness around the kneecap pain that increases with exercise or activities like running, climbing [kidshealth.org]

Urogenital

  • Cryptorchidism

    Joint inflammation 0001369 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Corneal erosion Damage to outer layer of the cornea of the eye 0200020 Cryptorchidism [rarediseases.info.nih.gov]

Workup

(See Workup.) The eponym West syndrome was created in the early 1960s by Drs. Gastaut, Poirier, and Pampiglione. [emedicine.medscape.com]

Treatment

ADDITIONAL INFORMATION The ADNP Gene ADNP Statistics Where in the World Treatment | Management There is currently NO CURE or FDA approved treatment for ADNP Syndrome. [adnpkids.com]

We focus on how today’s treatment will affect your child as they grow. We base treatment plans on years of experience and the newest research on what works best and most safely. [seattlechildrens.org]

Signs and symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of Reye's syndrome can save a child's life. [mayoclinic.org]

You and your child deserve a treatment for ADD that is non-invasive, a solution for headaches that is immediate, an alternative treatment for autism that addresses sensory overload, and a successful way to combat the light sensitivity and physical symptoms [irlen.com]

High dose B6 treatment in infantile spasms. Neuropediatrics. 1986 Feb. 17(1):7-10. [Medline]. Pietz J, Benninger C, Schafer H, et al. Treatment of infantile spasms with high-dosage vitamin B6. Epilepsia. 1993 Jul-Aug. 34(4):757-63. [Medline]. [emedicine.medscape.com]

Prognosis

(See Prognosis and Presentation.) [emedicine.medscape.com]

While the skin symptoms and hearing loss are typically present from birth, eye problems usually begin during childhood or adolescence and worsen with time. [3] Even though the general prognosis seems good, life-long follow-up is necessary because the [rarediseases.info.nih.gov]

Etiology

The list of etiologies can be subdivided into prenatal disorders, perinatal disorders, and postnatal disorders. [emedicine.medscape.com]

Epidemiology

Epidemiology Occurrence in the United States Infantile spasm constitutes 2% of childhood epilepsies but 25% of epilepsy with onset in the first year of life. The rate of infantile spasm is estimated to be 2.5-6.0 cases per 10,000 live births. [emedicine.medscape.com]

Epidemiology of HIV in children and other populations. In A.C. Crocker, H.J. Cohen, & T.A. Kastner (Eds), HIV Infection and Developmental Disabilities, p. 5-13, Baltimore: Paul H. Brookes. Stone, K.M. (1994). HIV, Other STDs, and Barriers. In C.M. [library.down-syndrome.org]

Prevention

How Can You Prevent SLJ Syndrome? The most important thing you can do to prevent getting SLJ is to stop doing an activity that causes pain in your knee at the first signs of irritation. Then, try to limit your activity until the pain goes away. [kidshealth.org]

Prevent and treat kidney or liver problems that can lead to kidney failure. Prevent and treat heart problems that affect some children with Jeune syndrome. [seattlechildrens.org]

They can also try to prevent more severe symptoms and see that brain swelling is held down. [webmd.com]

Avoiding these two viral illnesses can help prevent Reye's syndrome. Aug. 08, 2018 [mayoclinic.org]

There have been major advances in interdisciplinary and preventive medical management of individuals with Down syndrome. [library.down-syndrome.org]

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