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

• Moore-Federman Syndrome

What is Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome? (Definition/Background Information)

• Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome, considered to be a variable expression of acromicric dysplasia, is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands
• Fewer than 60 patients with this condition have been reported to date
• Signs and symptoms of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome include short stature, joint stiffness, respiratory complications, thickened skin on the forearms, hypermetropia, and glaucoma 
• The disease is caused by heterozygous mutations in the FBN1 gene. Mutations are all located in exon 41-42, encoding TGFβ binding protein-like domain 5.
• The diagnosis of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome can be suspected on association of severe postnatal short stature, short hands and feet, normal intelligence and mild facial dysmorphism. X-rays show delayed carpal bone age, cone shaped epiphyses, short metacarpals and phalanges with an internal notch of the second metacarpal, an external notch of the fifth metacarpal, as well as an internal notch of the femoral heads. Notches of the hands disappear in adulthood
• Orthopedic management may be needed for hip dysplasia during childhood and for carpal tunnel syndrome in older patients. Physical therapy is required to prevent progressive joint limitation. In a few cases, children have been treated with growth hormone therapy. Regular multidisciplinary follow-up is required, especially for respiratory abnormalities
• The prognosis of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome is usually good with a normal life expectancy. However, complications may occur, such as respiratory disorders, which may worsen the prognosis

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome? (Age and Sex Distribution)

• Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome is a rare congenital disorder, with less than 60 cases reported worldwide
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome can be inherited

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 Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome? (Etiology)

• Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome is caused by heterozygous mutations in the FBN1 gene
• Mutations are all located in exon 41-42, encoding TGFβ binding protein-like domain 5
• The condition is inherited in an autosomal dominant manner

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome?

The signs and symptoms of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome may include:

• Normal length at birth, with height falling progressively below the normal percentiles. The mean adult height is 130 cm (133 cm in males, 129 cm in females)
• Short hands, feet, and limbs with normal occipitofrontal circumference 
• Mild dysmorphic features (becomes less obvious in adults) including:
• Round face
• Narrow palpebral fissures
• Well-defined eyebrows
• Long eyelashes
• Bulbous nose with anteverted nostrils
• A long and prominent philtrum
• Thick lips 
• Small mouth
• Hoarse voice
• Generalized joint limitations due to stiffness
• Frequent ear, tracheal, and respiratory complications
• Spine abnormalities
• Carpal tunnel syndrome in older patients
• Short stature (with disproportionately short legs)
• Ocular abnormalities (hypermetropia, glaucoma) 
• Thickened skin on the forearms

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome Diagnosed?

The diagnosis of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome is suspected by the presence of the following abnormalities:

• Association of severe postnatal short stature, short hands and feet, normal intelligence and mild facial dysmorphism 
• X-rays show delayed carpal bone age, cone shaped epiphyses, short metacarpals and phalanges with an internal notch of the second metacarpal, an external notch of the fifth metacarpal, as well as an internal notch of the femoral heads (notches of the hands disappear in adulthood)

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

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 Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome?

The complications of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome may include:

• Chronic respiratory disorders
• Impaired vision
• Low self-esteem

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

How is Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome Treated?

The treatment of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome may involve:

• Orthopedic management for hip dysplasia during childhood and for carpal tunnel syndrome in older patients
• Physical therapy to prevent progressive joint limitation
• Growth hormone therapy for children, if warranted
• Regular multidisciplinary follow-up, especially for respiratory abnormalities

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome be Prevented?

• Presently, Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• 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 Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome?(Outcomes/Resolutions) 

• The prognosis of Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome is usually good with a normal life expectancy
• However, complications may occur, such as respiratory disorders, which may worsen the prognosis 

(Source: Acromicric dysplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Dwarfism-Stiff Joint-Ocular Abnormalities Syndrome:

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

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