Epigenetics and Chromatin Clinic

The Epigenetics and Chromatin Clinic was the first of its kind in the U.S. Our experts have been caring for patients with epigenetic conditions since 2012. Together, our providers have over 50 years of experience in epigenetics, having trained in some of the world’s best-known epigenetics research laboratories, and now they direct their own research laboratories and the Epigenetics and Chromatin Clinic.

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.

  • To learn from our patients some fundamental truths about epigenetics with the hope that this additional knowledge will lead to future therapeutic development for our patients.

  • To educate health care providers and patients about epigenetics and disorders of the epigenetic machinery.

Our Clinical Expertise

Who should be evaluated in the Epigenetics and Chromatin Clinic?

  • Individuals known to have a Mendelian disorder of the epigenetic machinery (MDEM) or an imprinting disorder 

  • Individuals suspected of having an MDEM or imprinting disorder

  • Individuals with intellectual disability or global developmental delay and growth differences

Services We Provide

  • Full clinical genetics evaluations
  • Genetic counseling
  • Comprehensive or targeted genetic testing
  • Brief developmental assessments 
  • Referrals for more extensive developmental and cognitive assessments
  • Recommendations on medical and behavioral interventions
  • Recommendations for schooling, including individualized education program (IEP) recommendations
  • Options for clinical trials that test the latest experimental therapies for epigenetics syndromes
  • Research opportunities

Conditions We Treat

KMT2DKabuki syndrome 1
KDM6AKabuki syndrome 2
KMT2AWiedemann-Steiner syndrome
TET3Beck-Fahrner syndrome
NSD1Sotos syndrome
EZH2Weaver syndrome
EEDCohen-Gibson syndrome
DNMT3ATatton-Brown-Rahman syndrome; Heyn-Sproul-Jackson syndrome
SETD2Luscan-Lumish syndrome
EHMT1Kleefstra syndrome 1
KMT2CKleefstra syndrome 2
CREBBPRubinstein-Taybi syndrome 1
EP300Rubinstein-Taybi syndrome 2
KAT6AArboleda-Tham syndrome
KAT6BSay Barber Biessecker Young Simpson syndrome (SBBYSS); Genitopatellar syndrome
CHD1Pilarowski-Bjornsson syndrome
CHD2Developmental and epileptic encephalopathy 94
CHD3Snijders Blok-Campeau syndrome
CHD4Sifrim-Hitz-Weiss syndrome
CHD5Parenti-Mignot neurodevelopmental syndrome
CHD7CHARGE/hypogonadotropic hypogonadism
CHD8Intellectual developmental disorder with autism and macrocephaly
MBD5Intellectual developmental disorder, autosomal dominant 1
MECP2Rett syndrome and related disorders
PHF6Borjeson-Forssman-Lehmann syndrome
SMARCA4Coffin-Siris syndrome 4
SMARCA2Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome
DPF2Coffin Siris syndrome 7
ATRXAlpha-thalassemia/mental retardation syndrome; Intellectual disability-hypotonic facies syndrome, X-linked
SRCAPFloating Harbor syndrome; developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
SETD5Intellectual developmental disorder, autosomal dominant 23
SETD1AEpilepsy, early onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies
SETD1BIntellectual developmental disorder with seizures and language delay
RAI1Smith Magenis syndrome
KDM1ACleft palate, psychomotor retardation, and distinctive facial features (CPFR)
KDM6BNeurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
KDM5CIntellectual developmental disorder, X-linked syndromic, Claes-Jensen type
KDM5BIntellectual developmental disorder, autosomal recessive 65
PHF8Intellectual developmental disorder, X-linked syndromic, Siderius type
DNMT1Autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCADN); hereditary sensory neuropathy 1E (HSN1E)
DNMT3BImmunodeficiency-centromeric instability-facial anomalies (ICF) syndrome 1
NSD2Rauch-Steindl syndrome (formerly Wolf-Hirschhorn syndrome)
HDAC4Neurodevelopmental disorder with central hypotonia and dysmorphic facies (formerly brachydactyly mental retardation syndrome)
HDAC6Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
HDAC8Cornelia De Lange syndrome, type 5
ASH1LIntellectual developmental disorder, autosomal dominant 52
ASXL1Bohring-Opitz syndrome
ASXL2Shashi-Pena syndrome
ASXL3Bainbridge-Ropers syndrome
BRWD3Intellectual developmental disorder, X-linked 93
BPTFNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies
BRPF1Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)
KMT2BChildhood-onset dystonia 28; Intellectual developmental disorder, autosomal dominant 68
KMT2EO’Donnell-Luria-Rodan syndrome
KMT5BIntellectual developmental disorder, autosomal dominant 51
KDM3BDiets-Jongmans syndrome
KDM4BIntellectual developmental disorder, autosomal dominant 65
KAT5Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
KAT8Li-Ghorgani-Weisz-Hubshman syndrome
PHIPChung-Jansen syndrome
RERENeurodevelopmental disorder with or without anomalies of the brain, eye or heart
PHF21AIntellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
TCF20Developmental delay with variable intellectual impairment and behavioral abnormalities
UBR7Li-Campeau syndrome
TAF1Intellectual developmental disorder, X-linked syndromic 33
ZMYND11Intellectual developmental disorder, autosomal dominant 30
ALG13Developmental and epileptic encephalopathy 36
ORC1Meier-Gorlin syndrome 1
MSL3Basilicata-Akhtar syndrome
LBRPelger Huet anomaly (PHA) PHA with muskuloskeletal findings Greenberg skeletal dysplasia

Additional Mendelian Disorders of the Epigenetic Machinery (MDEMs)

Gene SMN1Condition Spinal muscular atrophy 1-4Recommendation *Neuromuscular evaluation preferred
MORC2Charcot-Marie-Tooth disease 2Z*Primary neurology evaluation preferred
PRDM12Hereditary sensory and autonomic neuropathy (HSAN) 8*Primary neurology evaluation preferred
PRDM16Dilated cardiomyopathy 1LL; left ventricular non-compaction 8*Cardiology evaluation preferred
PRDM6Patent ductus arteriosus 3*Cardiology evaluation preferred
PRDM5Brittle cornea syndrome 2*Ophthalmology evaluation preferred
TDRD7Cataract 36*Ophthalmology evaluation preferred
MSH6Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome*Oncology evaluation preferred
CBX2Sex reversal*Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred
HRAlopecia universalis; Atrichia with papular lesions; hypotrichosis type 4*Dermatology evaluation preferred
TET2Immunodeficiency 75; myelodysplastic syndrome, somatic*Immunology or hematology/oncology     evaluation preferred
AIREAutoimmune polyendocrinopathy syndrome 1*Immunology evaluation preferred
RAG2Omenn syndrome and severe combined immunodeficiency (SCID)*Immunology evaluation preferred
SP110Hepatic venoocclusive disease and immune deficiency*Immunology evaluation preferred

Note: The above is a complete list of the MDEMs. We care for individuals with many of the disorders shown in black. However, for the disorders that are grayed out, our clinic may not be the most appropriate place to obtain medical care; for those, more appropriate specialty clinics are listed.

Schedule An Appointment

To schedule an appointment, please call 410-955-3071 (new patients) or 443-287-9494 (returning patients) and request an appointment in the Epigenetics and Chromatin Clinic with Dr. Fahrner. An appointment with Dr. Fahrner will allow you to be evaluated by Dr. Fahrner, Dr. Harris and Ms. Britton.