What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Contractures, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Impairment
• Contractures Ectodermal Dysplasia Cleft Lip Palate
• Ladda Zonana Ramer Syndrome

What is Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay? (Definition/Background Information)

• Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay is an ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development
• Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia

(Source: Contractures-ectodermal dysplasia-cleft lip/palate syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay? (Age and Sex Distribution)

• Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay is a rare congenital disorder, occurring at a frequency of less than 1 in a million newborns
• The presentation of symptoms may occur at birth
• Both genders or males (predominantly) may be affected, depending on the type of inheritance
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay? (Predisposing Factors)

• A positive family history may be an important risk factor, since Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay? (Etiology)

• The cause of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay is not known at the present time
• Based on the available cases, the mode of inheritance can either be autosomal or X-linked recessive

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

X-linked recessive pattern of inheritance: The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay?

The signs and symptoms of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay may vary among affected individuals, and include:

• Ectodermal dysplasia
• Congenital contracture
• Growth delay
• Oral cleft
• Cognitive impairment
• Hypohidrosis
• Lacrimation abnormality
• Limitation of joint mobility
• Non-midline cleft lip

(Source: Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay Diagnosed?

Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay?

The complications of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay may include:

• Difficulty in movement of joints with contractures
• Low self-esteem, if stunted growth occurs

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay Treated?

There is no cure for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay be Prevented?

Currently, Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay? (Outcomes/Resolutions)

• The prognosis of Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/