Rare Genetic Disorders

In the Amish and Mennonite communities, rare genetic disorders are actually not so rare, and finding easy-to-understand information can be a challenge. The CHC wants to provide you with a better understanding of these genetic disorders. Understanding your child’s disorder will allow you to have more effective communication with the healthcare professionals involved in his or her care. While many healthcare resources provide complicated information that is difficult to understand, we have specifically developed this educational section to be straightforward and simple. Below you will find information about how genetic disorders are inherited. You will also find a list of genetic disorders in your community along with causes, signs, symptoms and available treatment options. Please check back frequently as we will continue to update this page with more information.

What Are Genetic Disorders?

Genetic disorders are diseases that are caused when there is a change in a person’s DNA or genes. Changes can lead to problems in the way the body grows and functions. If the changes were passed down from a parent, they are called inherited disorders and are usually diagnosed at birth. However, it is possible that symptoms may not appear until later in life. Most of the genetic disorders present in your community are inherited.

Genetic Disorders In Your Community

This is a list of genetic disorders found in your community. This information serves as an educational guide only and does not replace professional medical advice. If you have any questions, please talk to your healthcare provider.

Amish brittle hair syndrome (trichothiodystrophy)
Antithrombin deficiency
Byler disease (progressive familial intrahepatic cholestasis)
Cartilage-hair hypoplasia
Charcot-Marie-Tooth disease
CHARGE syndrome
Congenital adrenal hyperplasia
Crigler-Najjar syndrome
Cystic fibrosis
Duchenne muscular dystrophy
Ellis-Van Creveld syndrome
Glutaric acidemia I
GM3 synthase deficiency
Hemophilia A & B
ITCH E3 ubiquitin ligase deficiency
Limb-girdle muscular dystrophy
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Methylmalonic acidemia and disorders of cobalamin metabolism
Mitochondrial disease
Nemaline myopathy (“chicken breast” syndrome)
Nonketotic hyperglycinemia
PAI-1 deficiency
PKU (phenylketonuria)
Polycystic kidney disease
Propionic acidemia
Refsum disease
Retinitis pigmentosa
SAMS association
SCID (severe combined immunodeficiency)
Seckel syndrome
SIDDT (sudden infant death with dysgenesis of the testes) syndrome
Spastic Ataxia
Spinal muscular atrophy I (Werdnig-Hoffmann disease)
Spondyloepiphyseal dysplasia
Symptomatic epilepsy and skull dysplasia
Troyer syndrome
von Willebrand disease 1 & 2M
Xeroderma pigmentosum
Zellweger syndrome

Chromosomal Disorders

The chromosome disorders listed below have been seen in the community. Chromosome disorders are typically not inherited from a person’s parents; however, they are still considered genetic because they affect a person’s genetic information. While these chromosome disorders do occur in the Amish and Mennonite communities, people of Amish and Mennonite descent are not necessarily at an increased risk of having these disorders.

16p11.2 deletion syndrome
22q11.2 deletion syndrome (DiGeorge or velocardiofacial syndrome)
Distal 18q- (de Grouchy syndrome)
Down syndrome
Partial trisomy 5
Trisomy 18 (Edwards syndrome)
Williams syndrome
Wolf-Hirschhorn syndrome (4p minus)

Complex Conditions and Birth Defects

The complex conditions and birth defects listed below are caused by a combination of genetic and non-genetic factors. Genetic factors may include inherited changes in a person’s genetic information, while non-genetic factors may include lifestyle, environmental influences, and other unknown causes.

Attention deficit disorders (ADD/ADHD)
Autism spectrum disorders
Bipolar disorder
Cardiomyopathy (dilated or hypertrophic)
Cerebral palsy (some individuals with cerebral palsy could actually have an undiagnosed genetic condition)
Cleft palate
Club feet
Congenital detached retinas
Congenital diaphragmatic hernia
Congenital hearing loss
Congenital heart defect
Cystic hygroma
Diabetes type 1 (juvenile)
Hirschsprung disease
Long QT syndrome
Obsessive-compulsive disorder
Panic/anxiety disorders
Perthes disease (Legg-Calve-Perthes disease)
Potter syndrome
Spina bifida
Sturge-Weber syndrome
Vein of Galen malformation
Visual impairment, including blindness