The nystagmus may be present at birth. Systemic Features: No systemic disease is present. Genetics No specific mutation has been found but 3 individuals in one family shared a haplotype suggesting a locus at 7p11.2. [disorders.eyes.arizona.edu]

Arthritis is usually a polyarticular synovitis and tenosynovitis and is commonly present (95 %). Camptodactyly with synovial cysts are also be present. [entokey.com]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

226 POSTER SESSIONS W=W ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr esent 2792 F CTNNB1 mutation in siblings with intellectual disability, spasticity and microcephaly. D. [ashg.org]

Minor anomalies were present in 41 patients (17.6%). Their presence was significantly associated with the severity of the MR. [karger.com]

• Asymptomatic

  […] if moms are fast metabolizers, child gets much greater amounts of morphine through the breast milk. codeine is prescribed for pain after C-section. most are asymptomatic some: growth restriction, cerebral calcifications, ocular abnormalities and hepatosplenomegaly [brainscape.com]

  […] total posterior sacral canal schisis; proband’s sister has asymptomatic partial schisis of the sacrum canal Edit 257 21082657_1 46,XX,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000–153,8 70,000)x1 developmental delay, poor motor skills, language delay [chr7.org]

  Although many can by asymptomatic, pain and hyperhidrosis may be present. Skin lesions do not bleed spontaneously or undergo malignant change [ 8 ]. [entokey.com]

• Trisomy 21

  Unusual cause of lung and renal disease in a baby with trisomy 21. Pediatr Pulmonol, 40, 173 –4. Oka, T., Utsunomiya, M., Ichikawa, Y. et al. ( 1985 ). [cambridge.org]

• Collapse

  Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. Pathol Res Pract, 204 (6), 401 –6. Epub 2008 Feb 13. Schulman, S. L., Zderic, S. and Kaplan, P. ( 1996 ). [cambridge.org]

• Candidiasis

  […] tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA Histidinemia Schwannomatosis Alagille syndrome Haim-Munk syndrome Papillon Lefevre syndrome Ichthyosis lamellar 2 Isolated growth hormone deficiency type 2 Candidiasis [checkrare.com]

• Constipation

  (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation [mendelian.co]

  […] downslanting palpebral fissures, and sparse eyebrows; bilateral hip dislocation and talipes; moderate learning disabilities; generalized seizure at 11 months, responded to valproate, at 7 years seizure free; muscle dysfunction/d ystrophy; significant constipation [chr7.org]

• Vascular Disease

  Optic atrophy (the loss of some or most of the nerve fibers in the optic nerve, if the retinal vascular disease is severe and early onset. The effects range from visual change to severe visual loss.) [nfed.org]

• Xerostomia

  Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphoma - Mouth dryness / xerostomia [csbg.cnb.csic.es]

• Malocclusion

  ×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion [chr7.org]

• Dry Skin

  Table 8.2 Diagnostic criteria of Cockayne syndrome • Postnatal growth failure (height and weight • Cutaneous photosensitivity with or without thin or dry skin/hair • Progressive microcephaly and neurologic dysfunction or leukodystrophy on brain MRI •  [entokey.com]

• Lacrimation

  […] references: 2 OMIM references - No MeSH references Very frequent - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Coarse / thick hair - Complete / partial microdontia - Defect / anomaly of lacrimal [csbg.cnb.csic.es]

  Lacrimal anomalities are frequently seen and EEC should be on the differential in a child with congenital lacrimal anomalies [ 36 ]. [entokey.com]

  AD) At least 9 OFD syndromes identified ectrodactyly (split hand/foot malformation) cleft lip/palate obstructed lacrimal ducts sparse hair Ectrodactyly-Ectodermal-Clefting EEC, Type 3 (AD) mutation in P63 gene at 3q27 Type 1 on 7q ; Type 2 on chr20 Mutations [brainscape.com]

  Brachydactyly Mononen type Kniest like dysplasia lethal Pierson syndrome Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Vascular hyalinosis Lujan syndrome Hydrocephalus obesity hypogonadism Tetraamelia with ectodermal dysplasia and lacrimal [checkrare.com]

• Muscle Spasticity

  Links Publisher Full Text Authors Source MeSH Abnormalities, Multiple Child, Preschool Consanguinity Humans Intellectual Disability Limb Deformities, Congenital Male Muscle Spasticity Paralysis Syndrome Pub Type(s) Case Reports Journal Article Language [wwww.unboundmedicine.com]

  Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary. [reference.md]

  Read More cranberry99 neck-muscle-spasticity-after-surgery 200210 Hi all - I had a TT and left neck dissection on Feb 19 (not quite 2 weeks ago). [inspire.com]

  […] paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner syndrome Spasmodic dysphonia Al Gazali syndrome Paroxysmal exertion-induced dyskinesia KCNQ2-Related Disorders Orofaciodigital syndrome 5 Polyneuropathy mental retardation [checkrare.com]

• Hand Deformity

  Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Showing of 9 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease [rarediseases.info.nih.gov]

  Pfeiffer Tietze Welte syndrome 0 *Abnormalities, Multiple *Craniosynostoses *Foot Deformities, Congenital *Hand Deformities, Congenital *Intellectual Disability. [reference.md]

• Coarse Face

  […] disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse [se-atlas.de]

  […] balanced t(7;13) Edit 18 2596503 46, XX, der(7)t(7;12)(p22;q11), i(12p) [60.2%]/ 46, XX, der(7)t(7;12)(q36;q11), i(12p) [37.9%]/ 46, XX, der(11)t(11;12)(q25;q11), i(12p) [1.4%]/ 46, XX, i(12p) [0.5%] de novo psychomotor retardation, generalized hypotonia, coarse [chr7.org]

• Broad Nasal Bridge

  […] congenital glaucoma, positional brachycephaly, motor and speech delay, poor social interaction, hypotonia, extreme shyness, eczema, prominent broad forehead, deeply-set eyes, high broad nasal bridge, thin nose, short nasal tip, low ears, irregular helices [chr7.org]

• Behavior Problem

  problems ( Bundey et al., 1994 ; Burnside et al., 2011 ).See also chromosome 15q13.3 deletion syndrome ( OMIM ) and chromosome 15q11.2 deletion syndrome ( OMIM ).For a discussion of genetic heterogeneity of autism, see {209850}. [mendelian.co]

• Cryptorchidism

  McDonough syndrome 0 *Abnormalities, Multiple *Cryptorchidism *Heart Defects, Congenital *Kyphosis *Intellectual Disability *Facies Rectus Abdominis/abnormalities. [reference.md]

  Related symptoms: Autosomal recessive inheritance Intellectual disability Cryptorchidism Cognitive impairment Brachydactyly SOURCES: OMIM DOID EFO MESH UMLS MONDO GARD More info about BARDET-BIEDL SYNDROME 4; BBS4 Low match GRANGE SYNDROME; GRNG Grange [mendelian.co]

  A 2-year-old baby with Downs syndrome, cryptorchidism and testicular tumour. Eur J Med Genet, 49, 265 –8. Dahan, K., Kamal, M., Noël, L. H. et al. ( 2007 ). [cambridge.org]

  […] synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism [chr7.org]

  Congenital heart anomalies, micropenis, and cryptorchidism have been reported. Tachypnea and tachycardia have been noted. Some patients have some degree of skeletal dysplasia and many individuals are short in stature. [disorders.eyes.arizona.edu]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Treatment Treatment Options: No specific treatment is available for this syndrome but individual signs and symptoms may need treatment. [disorders.eyes.arizona.edu]

More Symptoms of Mental retardation spasticity ectrodactyly » Treatments See also the following treatment articles: Treatments for Intellectual disabilities Treatments for Spasticity Causes See also causal information: Causes of Mental retardation Causes [familydiagnosis.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Treatment depends on the manifestations of disease. [entokey.com]

Predictors of poor prognosis include cataracts noted at birth or within the first 3 years of life, microphthalmia or iris hypoplasia [ 73 ]. [entokey.com]

Synonyms intellectual disability - spasticity - ectrodactyly|jancar syndrome Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. [curehunter.com]

~45% genetic etiology can be identified in up to 40% !! [brainscape.com]

[…] with a targeted next-generation sequencing panel Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. [bmcmedgenet.biomedcentral.com]

Czeizel A, Lányi-Engelmayer A, Klujber L, Métneki J, Tusnády G: Etiological study of mental retardation in Budapest, Hungary. Am J Ment Defic 1980;85:120–122. [karger.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351. [karger.com]

Epidemiology Albinism can affect people of all ethnic backgrounds. Approximately one in 17,000 people have albinism [Table 8.1 ] [ 2 ]. [entokey.com]

Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases. An Esp Pediatr, 48, 634 –8. Mccandless, A. and Walker, S. ( 1976 ). D13 ring chromosome syndrome. Arch Dis Child, 51 (6), 449 –53. [cambridge.org]

These ‘matches’ can also help prevent you from re-testing the same antibody from a different source. [ab-y-ss.com]

Local excision of trichilemmomas are often adequate with careful scrutiny of surgical margins to prevent benign recurrence [ 13 ]. [entokey.com]

Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution. [karger.com]