Geleophysic dysplasia is a rare genetic condition that causes a smaller physical stature, as well as challenges with joints and internal organs, among others.

Geleophysic dysplasia (GD) is inherited and caused by changes in the DNA. The condition is extremely rare, with an estimated 100 known cases.

Sometimes called geleophysic dwarfism, GD is a progressive condition that manifests with a small skeleton and health challenges that affect multiple areas of the body, such as the heart and lungs.

GD causes noticeable symptoms within the first year of life, with short height, hands, and feet among some of the most notable.

Also, during the first year of life, GD may cause progressive airway obstruction. This can develop in about 30% of cases.

Due to the rare nature of this condition, experts are still working to determine effective treatments. Currently, treatment primarily focuses on reducing and managing complications, some of which can become life threatening.

Symptoms of GD start at birth and can continue to develop and intensify throughout childhood.

The first notable symptoms are related to the skeleton. About 40% of babies who are born with geleophysic dysplasia have a length that is considered below the 5th percentile.

As the baby develops over the next several months after birth, other symptoms may include:

Joint symptoms may develop complications like carpal tunnel syndrome, hip dysplasia, and cartilage separation between bones and joints (osteochondritis dissecans).

Other common symptoms and clinical signs of GD may include:

  • thickened skin
  • significantly short hands and feet
  • a round face with a small nose
  • limited mobility
  • breathing difficulties and a narrowed windpipe (tracheal stenosis)

This condition can also cause a range of complications outside of joint and skeletal problems. A doctor may specifically look for the following:

GD is an inherited condition that can be passed down through families because of changes in specific genes. These changes can happen in one of three genes:

  • ADAMTSL2
  • FBN1
  • LTBP3

ADAMTSL2 is inherited in an autosomal recessive manner, while both FBN1 and LTBP3 are inherited in an autosomal dominant manner.

When a condition is autosomal dominant, each child of a parent with the mutation has an estimated 50-50 chance of inheriting the changed gene.

Some families who know they have these kinds of genetic changes or a history of GD may choose to talk with a doctor or genetic counselor to understand their options and what it might mean for their children.

Medical Terms Explained

Autosomal recessive: If a health condition is autosomal recessive, that means that both copies of a gene (from both parents) have a problem or mutation. A child would need to get a changed copy of the gene from both parents. If only one copy of the gene has a problem, then the child will carry the gene but won’t develop the condition.

Autosomal dominant: If a condition is autosomal dominant, it means that only one changed or mutated copy of the gene (from either parent) is enough for a child to develop the condition.

Acromicric dysplasia (AD) is another type of genetic disorder that manifests with short physical stature and short limbs. There are also two subtypes: Myhre syndrome and Weill–Marchesani syndrome (WMS).

The condition is primarily caused by FBN1 and LTBP3 mutations. Recessive ADAMTSL2 does not occur with AD.

The exact prevalence of AD is unknown, and the condition is considered extremely rare. GD and AD share similar physical symptoms, and these conditions are both present at birth.

Unlike GD, though, AD does not cause significant organ complications. For this reason, people with AD usually have an average life expectancy.

There is currently no cure for GD. Due to its rare occurrence, there is also a lack of clinical data to understand the outlook for GD.

Older research suggests that about one-third of people with GD die before the age of 5. However, some people can live much longer, and even well into late adulthood.

The survival rate with this condition is primarily related to complications, with heart and lung conditions being the most prominent.

The focus of GD treatment consists of monitoring and managing related complications. Depending on symptoms, management may consist of the following:

  • Physical therapy: Also known as physiotherapy, this treatment can help prevent further joint problems and increase overall mobility.
  • Eye and ear treatments: A doctor may refer the child to an ophthalmologist and an audiologist to help treat conditions of the eyes and ears, including recurring infections.
  • Orthopedic treatments: These include surgery for hip dysplasia and ongoing management of carpal tunnel syndrome, which may be needed in older childhood and early adolescence.
  • Lung disease treatments: A referral to a pulmonologist may help manage asthma, pulmonary hypertension, and other lung diseases.
  • Tracheostomy: Used to help treat tracheal stenosis, a tracheostomy involves making a hole in the windpipe when an obstruction prevents breathing.
  • Heart valve replacement: This treatment may be recommended to help blood flow more efficiently through the heart in cases where the valves are narrowed.

A doctor may recommend regular checkups to help monitor GD and its complications.

In addition to a primary care doctor for checkups, seeing the following specialists at least once a year may also help:

  • cardiologist
  • pulmonologist
  • orthopedist
  • ear, nose, and throat (ENT) doctor

GD is a rare condition that can be inherited through genetic mutations. Clinical signs, such as a significantly short stature, usually develop at birth. Other symptoms can develop throughout the first years of life.

While GD is considered extremely rare, it is associated with a low survival rate. Heart and lung complications are common. It is also possible to experience lifelong joint problems.

If you or a loved one has GD, a primary doctor and any recommended specialists can provide guidance and support. A GD team can help monitor the progression of this condition while also making important treatment modifications, as needed.