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Autosomal Dominant Mental Retardation Type 21

Intellectual Disability - Feeding Difficulties - Developmental Delay - Microcephaly


Presentation

  • This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility.[diapedia.org]
  • Thus, we present a case of CADASIL with psychotic symptoms at a tertiary-care psychiatric hospital.[gpsych.bmj.com]
  • Six of them presented mutations of the SRCAP gene.[content.sciendo.com]
  • Cataracts may also be present among other disorders of iron metabolism.[disorders.eyes.arizona.edu]
Short Stature
  • stature due to endocrine disorder 2016 2017 2018 2019 Billable/Specific Code Applicable To Constitutional short stature Laron-type short stature Type 1 Excludes achondroplastic short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional[icd10data.com]
  • STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES Microdontia Hypodontia Short Stature Microphthalmia and Mental Deficiency[rgd.mcw.edu]
  • ACRDYS1 is caused by heterozygous mutation in the PRKAR1A gene and is characterized by short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia, advanced bone age, obesity and multiple hormone resistance.[iofbonehealth.org]
  • Short stature is common and the joints may have limited motion. Dislocation of the radial heads is seen rarely while radioulnar synostosis has been seen in a few individuals. Postnatal short stature is common. Seizures often occur.[disorders.eyes.arizona.edu]
  • Additional MRD21 features include short stature, microcephaly, and developmental delay. Acronym MRD21 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Feeding Difficulties
  • Feeding difficulties have been reported while anal atresia is present in about half of patients.[disorders.eyes.arizona.edu]
  • In the first year of life, he presented feeding difficulties and failure to thrive. Clinical examination at 7 years old revealed: a height of 107 cm [ Figure 1 ).[content.sciendo.com]
  • A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.[icd10data.com]
  • Brain malformations cause abnormal muscle tone, spasticity or hypotonia, developmental delay, seizures severe intellectual disability, and feeding difficulties.[intechopen.com]
  • […] translation 15q22.31 AR LS [lxx] MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy [lxxi] TRMT5 611023 mitochondrial tRNA methylation 14q23.1 AR Cardiomyopathy/exercise intolerance [lxxii] TRMT10C 615423 TRNA Methyltransferase 3q12.3 AR Hypotonia, feeding[mitomap.org]
Keratosis
  • ERMARD 55780 75857 6q terminal deletion syndrome ORPHA236HP:0001263 HP:0001263 Global developmental delay0 ERMARD 55780 615544 Periventricular nodular heterotopia 6 C3809872 OMIM236HP:0001263 HP:0001263 Global developmental delay0 ESCO2 157570 3103 Keratosis[mseqdr.org]
Muscle Hypotonia
  • A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Human Molecular Genetics 22, 656-667.[mitomap.org]

Workup

  • Many will go undiagnosed until maturity as adults undergoing infertility workups. Fetuses are typically identified during amniocentesis performed for advanced maternal age. They are not normally identified because of an abnormal ultrasound finding.[chw.org]
  • […] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup[eyewiki.aao.org]

Treatment

  • Treatment Treatment Options: Treatment is supportive. Low vision aids may be helpful.[disorders.eyes.arizona.edu]
  • Other: Standard Standard Other Name: Treatment of hypertension, cyst infections and flank pain Active Comparator: 2 Sirolimus plus Standard Treatment Drug: Sirolimus Standard plus Sirolimus Other Name: Rapamune (R) Primary Outcome Measures : renal volume[clinicaltrials.gov]
  • […] and Quality of Life in Patients With Alzheimer's Disease and Behavioural and Psychological Symptoms of Dementia (BPSD) Unknown status NCT00626613 Phase 4 Risperdal,reminyl 9 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome[malacards.org]
  • Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed.[emedicine.medscape.com]

Prognosis

  • The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis.[genome.jp]
  • Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency.[eyewiki.aao.org]
  • Family studies have indicated that families may develop problems in response to a child's illness as well as affecting the child's prognosis for recovery.[minddisorders.com]
  • Common Syndromes Associated with Mental Retardation Diagnosis Incidence Etiology, including inheritance Clinical manifestations and early recognition Associated conditions Diagnostic evaluation* Prognosis Special considerations Down syndrome 1 in 600[aafp.org]

Etiology

  • Etiology : Autosomal dominant inheritance in some cases [6] . Pathogenesis : unknown.[sonoworld.com]
  • The secondary etiology is due to underlying diseases, with no mental deficiency.[scielo.org.co]
  • The consequences often are moderate to profound MR of unknown etiology.[scielo.br]
  • Etiology A number of environmental, genetic or multiple factors can cause mental retardation.[aafp.org]

Epidemiology

  • F - 47, XYY Epidemiology: 1 / 1 000 male births.[atlasgeneticsoncology.org]
  • However little data exists about the epidemiological relevance of familial MR.[scielo.br]
  • Definition and Epidemiology Polydipsia and polyuria with dilute urine, hypernatremia, and dehydration are the hallmarks of diabetes insipidus in infants and children.[pedsinreview.aappublications.org]
  • 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]
  • Genetic epidemiology Genetic epidemiology is the branch of medicine that investigates the incidence and prevalence of genetic disorders in specific populations.[minddisorders.com]
Sex distribution
Age distribution

Pathophysiology

  • Neurotic symptoms are reported to be mainly associated with this syndrome. 3 The exact pathophysiological mechanism underlying the association of psychotic symptoms with CADASIL syndrome is not clearly understood.[gpsych.bmj.com]
  • Pathophysiology Primary Form: Folds are symmetrical, with normal histology or hypertrophy and hyperplasia of connective tissue or epidermal appendages (25); it develops mainly in puberty.[scielo.org.co]
  • The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet 2007; 8:109-129. [ Links ] 12. Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.[scielo.br]

Prevention

  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Newborn screening and immediate treatment for PKU and hyperthyroidism can usually catch these disorders early enough to prevent retardation. Good prenatal care can also help prevent retardation.[medical-dictionary.thefreedictionary.com]
  • It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation.[iofbonehealth.org]

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