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Hormone and bone diseases

Achondroplasia

An inherited bone disease that is the most common cause of short stature with short arms and legs. Intelligence is usually normal.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Hormone and bone diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A change in the FGFR3 gene makes this protein overactive. This slows down the turning of cartilage into bone. The long bones of the arms and legs are affected most. The trunk stays a normal length.

Which symptoms can occur?

All people have short stature. The following may also be seen:

  • Shortness especially of the upper arms and thighs
  • A large head and a prominent forehead
  • Short fingers, limited movement at the elbow
  • A marked inward curve of the lower back and bowed legs
  • Frequent ear infections and a tendency to gain weight
  • Later in life, narrowing of the spinal canal, with pain and weakness in the legs
  • Rarely in infancy, narrowing at the base of the skull, pauses in breathing during sleep

How is it diagnosed?

The typical signs are noticed at birth. X-rays support the diagnosis. If there is doubt, a genetic test of the FGFR3 gene confirms the diagnosis.

Treatment and care

There is an approved treatment specifically for the disease. This treatment increases bone growth in children whose growth plates are still open. Research on other treatments is also ongoing. Head growth and breathing during sleep are monitored regularly. If needed, a brain surgeon assesses the child. Ear tubes, treatment of sleep apnea and weight control are important. Curvature of the legs and spine may need orthopedic follow-up or surgery. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through dominant inheritance. This means one copy of the changed gene is enough. About 8 in 10 people are born to parents of average height, through a new gene change. For each child of an affected parent, the chance is 1 in 2. If both parents are affected, a very severe form can occur in the baby. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Achondroplasia · NORD: Achondroplasia

Key facts

How is it inherited?
Autosomal dominant
When does it usually start?
Before birth, Newborn period
Gene(s) involved
FGFR3

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Achondroplasia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 14 active interventional studies for this disease. 6 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Hormone and bone diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:15 · ICD-11 LD24.00

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.