Living with Ateleiotic dwarfism
A rare inherited condition that affects growth hormone and leads to much shorter height starting in early infancy.
Understanding Ateleiotic dwarfism
It starts in early infancy, usually by 6 months of age. After growth hormone treatment, some people develop antibodies that make the treatment work less well. Newborns can have prolonged yellowing of the skin (jaundice) and a soft spot on the head that stays open longer.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Slow growth
- Low growth hormone levels
- High forehead and flat nose
- Soft spot on the head that stays open longer
- Prolonged yellowing of skin in newborns
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in GH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Raymond A. Wood Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Raymond A. Wood Foundation, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Raymond A. Wood Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the GH1 gene cause this condition. Both parents must pass on a changed copy of the gene (autosomal recessive).
Also known as: ateliotic dwarfism; autosomal recessive isolated growth hormone deficiency; congenital ighd type ia; congenital isolated gh deficiency type ia; congenital isolated growth hormone deficiency type ia; growth hormone deficiency, isolated autosomal recessive
Patient organizations
- Raymond A. Wood FoundationAteleiotic dwarfism · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Ateleiotic dwarfism.
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