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Helsmoortel-van der Aa Syndrome

Autosomal Dominant Mental Retardation Type 28


Presentation

  • Acronym HVDAS Synonyms Mental retardation, autosomal dominant 28 MRD28 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • 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]
  • List of Genetic Loci Contained within and Flanking the Deletions Locus Description Family G Family H RPS6KA6 Ribosomal protein S6 kinase, 90kDa, polypeptide 6 Present Present CXorf43 Chromosome X open reading frame 43 Present Present FAM121A Family with[iovs.arvojournals.org]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.de]
  • Thus, we present a case of CADASIL with psychotic symptoms at a tertiary-care psychiatric hospital.[gpsych.bmj.com]
Short Stature
  • Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities.[ncbi.nlm.nih.gov]
  • Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. MalaCards based summary : Mental Retardation, Autosomal Dominant 26, is also known as mrd26 .[malacards.org]
  • Clinical features include short stature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common.[diapedia.org]
  • Growth failure leading to short stature is sometimes due to a growth hormone deficiency.[findzebra.com]
  • A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com]
Feeding Difficulties
  • Two patients had chronic lung disease, 3 had gastrointestinal reflux and feeding difficulties, and 1 had intestinal malrotation.[findzebra.com]
  • difficulty, esotropia, nystagmus, central hypotonia Cataract Motor delay Blurred vision, diplopia, choking episodes, limb weakness Chronic bronchitis Axonal sensorimotor polyneuropathy / / / / / / / / / / / / Dysphagia Proximal weakness Atrial hypertrophy[kundoc.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]
Recurrent Infection
  • Indication/timing: As highlighted above, the indications for nephrectomy include pain/discomfort, space for transplantation, ongoing haematuria, recurrent infections, and gastrointestinal pressure symptoms (early satiety)[ 82 , 83 ].[wjgnet.com]
Antipsychotic Agent
  • Citing Literature Number of times cited according to CrossRef: 5 Se Hyun Kim, Soyoung Park, Hyun Sook Yu, Kyung Hee Ko, Hong Geun Park and Yong Sik Kim, The antipsychotic agent clozapine induces autophagy via the AMPK-ULK1-Beclin1 signaling pathway in[doi.org]
Long Arm
  • This gene is located on the long arm of chromosome 20 (20q13.13). The ANDP gene is involved in the autophagy pathway. Its precise role in this process is under active investigation. This is made by sequencing the ADNP gene. Treatment is symptomatic.[en.wikipedia.org]
  • […] t or f: abnormal chromosome structure is insignficant false; can range from insignificant to fatal the long arm of the chromosome is referred to as short arm of the chromosome what are 4 ways that chromosomes could be rearranged 1. translocation 2. inversion[studyblue.com]
  • (USA) Fragile X syndrome The Fragile X syndrome is caused by a "fragile" site at the end of the long arm of the X-chromosome. It is a genetic disorder that manifests itself through a complex range of behavioural and cognitive phenotypes.[who.int]
  • This suggests that contiguous gene defects on the long arm of the x chromosome may cause some IGHD III cases. Duriez et al reported that X-linked agammaglobulinemia and IGHD is caused by mutation in the Bruton's tyrosine kinase or BTK gene 6.[analesdepediatria.org]
  • The disease is caused by the expansion of an unstable CTG repeat located in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on the long arm of chromosome 19 72.[scielo.br]
Muscle Hypotonia
  • FEATURES OF WOLF-HIRSCHHORN SYNDROME *Short Philtrum *Immunodeficient *Microcephaly (Small Head Size) *Seizures *Muscle Hypotonia *Renal Anomalies *Deafness 30. Cri Du Chat 31.[slideshare.net]
  • Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[kundoc.com]
  • 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]
Small Hand
  • Last update: March 2006 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date.[findzebra.com]
Broad Nasal Bridge
  • Definition A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip,[uniprot.org]
  • Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features.[findzebra.com]
  • The typical facial anomalies of Coffin-Siris syndrome include a wide mouth with thick, everted upper and lower lips, broad nasal bridge with broad nasal tip, thick eyebrows and long eyelashes [ 34 ].[journals.plos.org]
Frontal Bossing
  • Systemic Features: The midface is generally flat with underdeveloped maxillary bones and absent or small nasal bones but there may be frontal bossing. The nose appears hypoplastic with a broad, flat root resulting in dystopia canthorum.[disorders.eyes.arizona.edu]
  • bossing Cardiac or ovarian fibroma Medulloblastoma Lymphomesenteric cysts Congenital malformation: cleft lip and/or palate, polydactyly, congenital ocular anomaly (cataract, microphthalmos, coloboma) *Diagnosis requires two major / one major and two[reviewofophthalmology.com]
  • The facial dysmorphism is characterized by frontal bossing, a depressed nasal bridge with a short nose and a long and prominent philtrum. Decreased mobility of the elbows and knees is also a common feature.[findzebra.com]
Thin Lips
  • Craniofacial dysmorphism included a prominent metopic ridge, upslanted palpebral fissures, anteverted nares, moderate telecanthus and downturned corners of the mouth with thin lips.[nature.com]
  • Growth failure, cardiac septal defect, thin lip and asymmetric dysmorphic ears: a new syndrome due to deletion of 6q25? .[doczz.it]
Hyperactivity
  • Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%.[emedicine.medscape.com]
  • Atrophy of the spinal cord Diplopia Strabismus Absence seizures Scanning speech Vertical supranuclear gaze palsy Abnormality of the eye Intellectual disability, mild Pontocerebellar atrophy Gaze-evoked horizontal nystagmus Generalized limb muscle atrophy Hyperactive[mendelian.co]
  • The disorder is considered chronic and often co-occurs with other mental conditions like depression, attention deficit/hyperactivity disorder, and autism spectrum disorder (ASD).[f1000research.com]
  • Hyperactivity or attention deficit hyperactivity disease and aggression are commonly seen in patients with TSC [ 12, 25 ]. Kidneys Renal involvement is the second most common cause of early death in individuals with TSC.[omicsonline.org]

Workup

  • […] 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]
  • It thereby offers an effective option for extensive genetic testing early in the diagnostic workup for children with developmental disorders.[journals.plos.org]

Treatment

  • Treatment is symptomatic. This may include speech, occupational, and physical therapy and specialized learning programs depending on individual needs. Treatment of neuropsychiatric features may also be needed.[en.wikipedia.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Possible future treatments Various new treatments for HD are being studied. They include gene therapy treatments and various treatments with medicines. For example, trials looking at the effect of a new medicine called pridopidine are underway.[patient.info]
  • Treatment Treatment Options: Visually significant cataracts may be removed.[disorders.eyes.arizona.edu]
  • Treatment and prognosis Manage the presenting manifestations of the disease: surgical correction of imperforate anus treatment of hearing loss early in the disease course hemodialysis and renal transplant for ESRD surgical correction of congenital cardiac[radiopaedia.org]

Prognosis

  • Treatment and prognosis Manage the presenting manifestations of the disease: surgical correction of imperforate anus treatment of hearing loss early in the disease course hemodialysis and renal transplant for ESRD surgical correction of congenital cardiac[radiopaedia.org]
  • Diagnosis/ prognosis: There is no treatment or cure for Huntington’s Disease, and the patient eventually becomes completely dependent on others for daily functioning.[who.int]
  • There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis.[books.google.com]
  • Oral retinoid are effective, especially in some hereditary PPKs. [4] the prognosis is good as long as medications are used; patients may have a normal life span.[ijdvl.com]

Etiology

  • The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings.[ncbi.nlm.nih.gov]
  • Etiology The perspective of disease etiology can provide beneficial and critical clinical data for diagnostic, prognostic, concept, and convert to treatment.[genecelltissue.com]
  • The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders[books.google.ro]
  • The secondary etiology is due to underlying diseases, with no mental deficiency.[scielo.org.co]
  • Keratoconus is a complex condition of multifactorial etiology. Both genetic and environmental factors are associated with KTCN.[meajo.org]

Epidemiology

  • Recessive Epidemiology: Most Caucasian; 10 patients Clinical Onset age: 8 months to 7 years Extrapyramidal Dystonia Rigidity Choreoathetosis Cerebellum: Ataxia; Nystagmus Spasticity Mental development Poor speech Mental deficiency: Mild to Severe Other[neuromuscular.wustl.edu]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.de]
  • Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments.[books.google.com]
  • However little data exists about the epidemiological relevance of familial MR.[scielo.br]
Sex distribution
Age distribution

Pathophysiology

  • One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia.[doi.org]
  • Recent advances on the mechanisms regulating cholangiocyte proliferation and the significance of the neuroendocrine regulation of cholangiocyte pathophysiology.[ncbi.nlm.nih.gov]
  • 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]
  • The possible consequences of AFG3L2 mutation might be related to the pathophysiology of DOA, a disease which is caused by OPA1 haplo-insufficiency or eventually by a dominant negative process ( Olichon et al., 2007 ).[frontiersin.org]
  • (See Pathophysiology CKD 5D. Nephrol Dial Transplant (Supplement 2) 2012; 27: ii511–ii516.)[academic.oup.com]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.de]
  • […] senescence does your immune sysyem prevent to spread of metastasis ___ spread is more predictable than blood what is the importance of angiogenesis late stage of metastatis that allows tumors to grow 2mm ___ is the location and pattern of spread that[studyblue.com]
  • Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions.[emedicine.medscape.com]
  • Non syndromic gingival fibromatosis in a mild mental retardation child 1 Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Hospital, Dilsuknagar, Hyderabad, Andhra Pradesh, India 2 Department of Oral and Maxillofacial[contempclindent.org]

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