CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. [phgkb.cdc.gov]

In addition, in the present case, a congenital loss of vision has also been reported. [hindawi.com]

Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. [amp.blog.shops-net.com]

National Suicide Prevention Lifeline Serves many people with rare and chronic diseases and understands that these diagnoses can be very isolating and present a heavy emotional (and sometimes financial) burden. [rarediseases.info.nih.gov]

A new complex karyotype involving a KMT2A-r variant three-way translocation, in a rare clinical presentation of a pediatric patient with acute myeloid leukemia. [uniklinikum-jena.de]

• Developmental Delay

  Most individuals with ZTTK syndrome are identified early in childhood due to developmental delays and intellectual disabilities. [amp.blog.shops-net.com]

  The manifestations consist of uncommon head shape, boom and developmental delay, and mild webbing between the arms and toes. Less than 10 cases have been described within the literature so far. [pharmatutor.org]

  (症状) (GARD) 　<80%-99%> 　Aphasia　(失語症)　[HP:0002381]　[0231] 　Clinodactyly of the 5th finger　(第5指弯指)　[HP:0004209]　[15409] 　Cryptorchidism　(停留精巣)　[HP:0000028]　[14010] 　Dysphasia　(不全失語症)　[HP:0002357]　[0231] 　Echolalia　(反響言語)　[HP:0010529]　[02202] 　Global developmental [syndromefinder.ncchd.go.jp]

  Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis MESH:C535927 ! Chitayat Moore Del Bigio syndrome GARD:0001277 ! Chitty Hall Webb syndrome Orphanet:3331 ! [github.com]

• Low Set Ears

  Ear Placement Images a show normal ear position. Low set ear are positioned below the horizontal lines as illustrated in B. Low-set ears are often posteriorly rotated reflecting in the normal anterior rotation that occurred during ear development. [pharmatutor.org]

  Distinct facial features include facial asymmetry, low-set ears, midface retraction, frontal bossing, a depressed and or broad nasal bridge and a smooth or short philtrum. 1.3. [amp.blog.shops-net.com]

• Visual Impairment

  Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. [amp.blog.shops-net.com]

  impairment　(視力障害)　[HP:0000505]　[06011] (UR-DBMS) 【一般】*出生前および生後の成長遅延 (3パーセンタイル未満) 　*精神遅滞 (IQ = 30-60) 　けいれん 【神経】ジストニア性運動 【頭】*小頭 (3パーセンタイル未満) 【顔】幅広い多毛の額 　短い人中 　真っ直ぐな口 　薄い口唇 【眼】視力低下 　眼球後静脈瘤 　眼球突出 　視神経萎縮 【鼻】幅広い鼻梁 　目立つ鼻柱 　鼻翼低形成 【口】ジストニア性舌挺出 　小さな歯 　異常な形の歯 　 [syndromefinder.ncchd.go.jp]

• Blepharoptosis

  Posterior fusion of lumbosacral vertebrae - blepharoptosis GARD:0002282 ! Feingold Trainer syndrome MESH:C536179 ! Feingold Trainer syndrome GARD:0002294 ! Fetal aminopterin syndrome Orphanet:1908 ! [github.com]

• Macrocephaly

  Macrocephaly and brain white matter abnormalities have also been observed. Seizures often develop between the ages of 1 to 6 years old. 1.5. [amp.blog.shops-net.com]

  Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations Orphanet:2427 ! Macrocephaly - short stature - paraplegia GARD:0000174 ! Macrogyria, pseudobulbar palsy and mental retardation MESH:C537722 ! [github.com]

• Foot Deformity

  Radio-ulnar synostosis type 2 0 *Abnormalities, Multiple *Foot Deformities, Congenital *Hand Deformities, Congenital *Syndactyly. [reference.md]

• Brachydactyly

  Brachydactyly elbow wrist dysplasia OMIM:186550 ! Brachydactyly - elbow wrist dysplasia GARD:0000989 ! Brachymesophalangy type 2 OMIM:112600 ! Brachydactyly type A2 GARD:0000992 ! Brachymetapody anodontia hypotrichosis albinoidism OMIM:211370 ! [github.com]

• Skin Disease

  Eyebrows duplication of, with stretchable skin and syndactyly 0 *Skin Diseases *Syndactyly Eyebrows/abnormalities. Pavone Fiumara Rizzo syndrome 0 *Cataract *Intellectual Disability *Syndactyly. [reference.md]

• Mid-Face Hypoplasia

  Mid-face Hypoplasias:-Midface hypoplasia (blue region below) is essentially the same thing as maxillary bone region hypoplasia. Maxillary retrusion is another way of thinking about mid-face hypoplasia. [pharmatutor.org]

• Global Developmental Delay

  Practice parameter: evaluation of the child with global developmental delay. Neurology. 2003; 60:367-380. 4. Soekarman D, Volcke P, Fryns JP. On the nosology of the craniodigital syndromes: report of a family and review of the literature. [pharmatutor.org]

  developmental delay　(全般的発達遅滞)　[HP:0001263]　[0120] 　Intellectual disability　(知的障害)　[HP:0001249]　[0120] 　Microcephaly　(小頭)　[HP:0000252]　[03013] 　Mutism　(無言症)　[HP:0002300]　[0231] 　Prominent nasal bridge　(目立つ鼻梁)　[HP:0000426]　[0706] 　Severe short stature　 [syndromefinder.ncchd.go.jp]

They fly individuals to hospitals and treatment centers in 26 states within a 600 mile radius of their St. Louis, MO headquarters. [rarediseases.info.nih.gov]

MEDICINE REUQIRMENT: - The movement disorder associated with can be managed by pharmacological treatment of through physical therapy and occupational therapy to reduce disability. [pharmatutor.org]

Treatment There is currently no treatment for ZTTK syndrome. However, physical therapy and addressing the specific problems of multi organ disorders may be helpful. The main focus should be on the diagnosis and care of individuals with ZTTK syndrome. [amp.blog.shops-net.com]

Demily, �Behavioral disturbance and treatment strategies in Smith-Magenis syndrome,� Orphanet J Rare Dis, vol. 10, pp. 111, Sep. 2015, doi:10.1186/s13023-015-0330-x. [23] R.J. [ijstr.org]

Notwithstanding the definition, grouping and etiology of MR. There are four sorts of Scott Craniodigital disorder, for example, Craniodigital Syndrome-Mental Retardation, Scott Type, Craniodigital Syndrome of Scott, Scott Syndrome. [pharmatutor.org]

Complex Neurodevelopmental Disorders And Their Genetic Etiologies [Full Text] AUTHOR(S) Amna Batool, Mahira Arooj KEYWORDS Complex Neurodevelopmental disorder (NDD); Intellectual disability (ID); Neurodegenerative diseases; Neurobehavioral traits; Autism [ijstr.org]

EPIDEMIOLOGY Under 10 cases have been depicted in the writing so far [10]. Clinical portrayal unusual dermatoglyphic designs, development hindrance and brachycephalic have additionally been accounted for. [pharmatutor.org]

Bear, �The pathophysiology of fragile X (and what it teaches us about synapses),� Annu Rev Neurosci, vol. 35, pp. 417�443, Jul. 2012. [109] W. Perry, A. Minassian, B. Lopez, L. Maron, and A. [ijstr.org]

PATHOPHYSIOLOGY Scott Craniodigital disorder is accepted to be acquired as a X-connected latent hereditary characteristic, in light of the nearness of the condition in guys as it were. [pharmatutor.org]

Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. [phgkb.cdc.gov]

IMALIVE Provides help with suicide intervention, prevention, awareness, and education and hope through online crisis chat, educational on-campus and virtual college events, and awareness campaigns. [rarediseases.info.nih.gov]

Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome", Case Reports in Dentistry, vol. 2013, Article ID 845405, 4 pages, 2013. https://doi.org/10.1155/2013/845405 Meera Sandhu,1 Pooja Malik,1 and Rooposhi Saha1 1Pedodontics and Preventive [hindawi.com]

Jacobs Journal of Epidemiology and Preventive Medicine 1 (open access). [humangenetics.uni-bonn.de]