Classification level: Disorder Synonym(s): Pilarowski-Bjornsson syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Infancy ICD-10: - OMIM: 617682 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Seizures may be present in some cases. Mild obesity is common in affected children even during infancy. [rarediseases.org]

We also presented evidence that Chd1 is regulated by retinoic acid signaling during craniofacial development. Expression levels of chd1 mRNA, specifically in the head, were increased by RAR agonist exposure and decreased upon antagonist treatment. [scholarlyexchange.childrensmercy.org]

In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. [genecards.org]

• Epilepsy

  “When she was two she was diagnosed with a condition called LGS Lennox-Gastaut syndrome, and what that really means is she has epilepsy that can’t be controlled. Every day she has seizures.” [clickorlando.com]

  Intellectual disability-hypotonic facies syndrome, X-linked SRCAP Floating Harbor syndrome; developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities SETD5 Intellectual developmental disorder, autosomal dominant 23 SETD1A Epilepsy [hopkinsmedicine.org]

  A few females have been reported to develop epilepsy, which may be associated with signs of a generalized neuronal migration disorder resembling a subcortical band heterotopia on MRI. [rarediseases.org]

  Zhengzhou University 1 0 0 0 0 0 0 0 0 1 Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 0 1 0 0 0 0 0 0 0 1 Genetics and Personalized Medicine,Danish Epilepsy [clinvarminer.genetics.utah.edu]

• Short Stature

  cupped ears, depressed nasal tip and short columella). [findexpertmd.com]

  The failure of the testes and ovaries to produces hormones may result in growth deficiencies resulting in short stature and delayed sexual development. [rarediseases.org]

• Constitutional Symptom

  symptom (HP:0025142) Abnormal cellular phenotype (HP:0025354) Abnormality of the musculoskeletal system (HP:0033127) Abnormality of limbs (HP:0040064) Abnormality of the thoracic cavity (HP:0045027) Voir plus Pré-analytique : 5 ml de sang total ou ADN [staging.biomnis.blueshiftagency.co.uk]

• Developmental Disorder

  KDM5C Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type KDM5B Intellectual developmental disorder, autosomal recessive 65 PHF8 Intellectual developmental disorder, X-linked syndromic, Siderius type DNMT1 Autosomal dominant cerebellar [hopkinsmedicine.org]

• Heart Disease

  Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. [books.google.de]

• Platyspondyly

  […] disability 30 (ZMYND11) Autosomal dominant intellectual disability 32 AKA Arboleda-Tham syndrome (KAT6A) Borjeson-Forssman-Lehmann syndrome (PHF6) Brachydactyly MR syndrome (HDAC4) Cerebellar ataxia, deafness and narcolepsy (DNMT1) Chondrodysplasia with platyspondyly [cincinnatichildrens.org]

  […] anomalies (ICF) syndrome 1 NSD2 Rauch-Steindl syndrome (formerly Wolf-Hirschhorn syndrome) HDAC4 Neurodevelopmental disorder with central hypotonia and dysmorphic facies (formerly brachydactyly mental retardation syndrome) HDAC6 Chondrodysplasia with platyspondyly [hopkinsmedicine.org]

• Psychomotor Retardation

  retardation and distinctive facial features (KMD1A) Coffin-Lowry syndrome (RPS6KA3, aka RSK2) Coffin-Siris syndrome 1 (ARID1B) Coffin-Siris syndrome 4 (SMARCA4) Cornelia de Lange syndrome (HDAC8, NIPBL, SMZC1A, SMCZ3) Epileptic encephalopathy (CHD2) [cincinnatichildrens.org]

  Epilepsy, early onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies SETD1B Intellectual developmental disorder with seizures and language delay RAI1 Smith Magenis syndrome KDM1A Cleft palate, psychomotor [hopkinsmedicine.org]

• Seizure

  Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018). [ncbi.nlm.nih.gov]

  Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017). [mendelian.co]

  Every day she has seizures.” [TRENDING: Here’s how the new I-4 express toll lanes work | Florida lawmakers ask Gov. DeSantis to declare a state of emergency on housing | Become a News 6 Insider (it’s free!)] [clickorlando.com]

  Seizures or isolated EEG abnormalities may also be associated. [orpha.net]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Expression levels of chd1 mRNA, specifically in the head, were increased by RAR agonist exposure and decreased upon antagonist treatment. Subphenotypic levels of an RAR antagonist and Chd1 morpholinos synergized to result in orofacial defects. [scholarlyexchange.childrensmercy.org]

Our clinical mission To diagnose, provide optimal care for, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders. [hopkinsmedicine.org]

Pediatrics,Shenzhen Children's Hospital 0 1 2 0 0 0 0 0 0 3 Molecular Genetics Laboratory; Baylor College of Medicine 0 2 1 0 0 0 0 0 0 3 Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 3 0 0 0 0 0 0 0 0 3 Laboratory of Genetic Epidemiology [clinvarminer.genetics.utah.edu]

These cancers are thought to have occurred because PHF6 is a tumor suppressor gene, in other words a gene that normally prevents the development of cancer. [rarediseases.org]

Centre 1 0 0 0 0 0 0 0 0 1 Center for Breast Cancer,National Cancer Center 1 0 0 0 0 0 0 0 0 1 Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 0 0 1 Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 0 1 Cancer Prevention [clinvarminer.genetics.utah.edu]