Either way, the presentation of non-syndromic intellectual disability as a mild presentation of a Congenital Disorder of Glycosylation brings up the old debate again whether patients with such a presentation should be systematically screened for underlying [epilepsygenetics.net]

Unilateral hydronephrosis was present. [dev.docslide.net]

We present a patient with congenital hyperphosphatasia whose clinical and radiographic features were somewhat different from these other well-defined syndromes. The patient was followed for 45 years until his death of at age 49. [jhu.pure.elsevier.com]

Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]

A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. [readbyqxmd.com]

• Disability

  How is intellectual disability diagnosed? Intellectual disability may be suspected for many different reasons. [webmd.com]

  Genetic investigations in intellectual disability. For many cases of intellectual disability (ID) of unknown origin, a genetic basis is assumed. [epilepsygenetics.net]

  Kruse et al., (1988) described nine patients (six females) with hyperphosphatasia and intellectual disability. [fdna.health]

  […] intellectual disability that is often moderate to severe. [ncbi.nlm.nih.gov]

  The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability. [spiral.imperial.ac.uk]

• Developmental Disorder

  Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A. [bredagenetics.com]

  Krawitz Genome Medicine (2018) Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa [nature.com]

• Abdominal Distension

  History was remarkable for suspected milk and soy protein allergy, gastroesophageal reflux, constipation, and abdominal distension that was present since birth. He was losing weight despite oral intake of over 100 kcal/kg per day. [readbyqxmd.com]

  Soon after birth, he presented with abdominal distension and vomiting. A rectal biopsy showed short-segment Hirschsprung disease which required colostomy and anal dilatations. Bilateral supernumerary nipples were noted. [dev.docslide.net]

• Hypoplastic Nails

  (a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges. (c) Broad hallux and hypoplastic toenails. [iofbonehealth.org]

  Brachytelephalangy was present with hypoplastic nails, especial- ly on thumbs and little fingers. She developed a mild scoliosis. Alkaline phosphatase activity was increased to between 1,937 and 2,069U/L (NR< 410U/L). A karyotype was normal. [dev.docslide.net]

  Figure 3 Hand anomalies of patients with PIGV mutations. ( a ) Brachytelephalangy with missing and hypoplastic nails of fingers of patient 8. ( b ) Hand radiograph of patient 2 showing hypoplastic distal phalanges. ( c ) Broad hallux and hypoplastic toenails [nature.com]

• Psychomotor Retardation

  GNAS Pseudopseudohypoparathyroidism, 612463 XYLT1 Pseudoxanthoma elasticum, modifier of severity of, 264800 SNIP1 Psychomotor retardation, epilepsy and craniofacial dysmorphism, 614501 PTEN PTEN hamartoma tumor syndrome CPS1 Pulmonary hypertension, neonatal [gsdseq.ir]

• Broad Nasal Bridge

  Fig. 2) (d, e, f) The distinct pattern of facial anomalies present in a patient with PIGV mutation consisted of wide-set eyes, often with a large appearance, a short nose with a broad nasal bridge and tip, and a tented upper lip. [iofbonehealth.org]

  Dysmorphic features were hypertelorism, upslanting palpebral fissures, broad nasal bridge, broad nasal tip, short nose, tented upper lip vermilion and brachytelephalangy. [fdna.health]

  nasal bridge and a rectangular face. [en.wikipedia.org]

  The distinct pattern of facial anomalies present in all patients consisted of wide-set eyes, often with a large appearance, a short nose with a broad nasal bridge and tip, and a tented upper lip ( Figures 2 and 4 ). [nature.com]

  Facial dysmorphic features including hypertelorismwith elongated palpebral fissures, broad nasal bridge, and tented upper lip with downturnedcorners of themouthare common toall cases (Table I). [dev.docslide.net]

• Thin Lips

  Those facial findings of greatest diagnostic value were the combination of the characteristic eyebrows, long philtrum, thin lips and crescent‐shaped mouth. [doi.org]

• Convulsions

  Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of [ncbi.nlm.nih.gov]

  A single male with intellectual disability and convulsions was reported by Gomes and Hunter (1970). At 28 months, he was noted to have bilateral cataracts, and a 3-cm liver was noted when he was 4 years of age. [fdna.health]

• Generalized Tonic-Clonic Seizure

  Frequent generalized tonic-clonic seizures commenced at age 4 years. Treatment with valproic acid and rufinamide resulted in partial control of seizures. Cluster seizures were treated with clonazepam. [dev.docslide.net]

Prior workup including laboratory studies, abdominal X-ray, upper gastrointestinal series with fluoroscopy, barium enema, and abdominal ultrasound were all within normal limits. [readbyqxmd.com]

Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]

We hope that a functional workup of these mutations with respect to their protein impairment of PIGV will enable a better prediction of the phenotypic outcome of the patients based on the genotype information. References 1. [nature.com]

• Delayed Bone Age

  In addition, affected infants and children may have hypotonia, abnormally loose joints, delayed bone age (2 to 3 years behind the chronological age), and mild to severe intellectual disability. [rarediseases.org]

• Hypsarrhythmia

  Disease description An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. [uniprot.org]

Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual. [rarediseases.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities. [books.google.de]

Improved survival with asfotase alfa treatment in pediatric patients with hypophosphatasia at high risk of death. Poster presented at the American Society for Bone and Mineral Research (ASBMR) 2014 Annual Meeting, Houston, September 14, 2014. [alexionpharma.jp]

You can help by adding to it. ( July 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( July 2017 ) References [ edit ] ^ Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA (1970). [en.wikipedia.org]

The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. [readbyqxmd.com]

Ireland, Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis, Current Paediatrics, 6, 2, (69), (1996). [doi.org]

ELANE should be screened in patients with congenital neutropenia of no obvious etiology... [readbyqxmd.com]

Krantz, On the Molecular Etiology of Cornelia de Lange Syndrome, Annals of the New York Academy of Sciences, 1151, 1, (22-37), (2008). L. Collis, J. Moss, J. Jutley, K. Cornish and C. [doi.org]

Multiple novel candidate genes were also identified in this study, many of which are likely etiologic based on known biological function ( Table 4 and S1 File ). [journals.plos.org]

Driscoll DA, Budarf ML, Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and micro deletions of 22q11. Am J Hum Genet 50: 924-933. [omicsonline.org]

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.de]

Keywords: Mabry syndrome PGAP3 Hyperphosphatasia with Mental Retardation Intellectual Disability Noncoding Mutations Genetics & Heredity Genetics Clinical Sciences Publication Status: Published Appears in Collections: Faculty of Medicine Epidemiology, [spiral.imperial.ac.uk]

Ingeborg Barisic, Visnja Tokic, Maria Loane, Fabrizio Bianchi, Eliza Calzolari, Ester Garne, Diana Wellesley and Helen Dolk, Descriptive epidemiology of Cornelia de Lange syndrome in Europe, American Journal of Medical Genetics Part A, 146A, 1, (51-59 [doi.org]

Can intellectual disability be prevented? Certain causes of intellectual disability are preventable. The most common of these is fetal alcohol syndrome. Pregnant women shouldn’t drink alcohol. [webmd.com]

In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. [order.radboudumc.nl]

CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence. [researchdata.ands.org.au]

During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential. [rarediseases.org]

This retention would prevent the loss of known, rare disease-causing mutations that are shared between unrelated samples in the study cohort. [journals.plos.org]