Living with X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
A rare X-linked condition with a small head, severe developmental delay, seizures, slow growth, and distinct features.
Understanding X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
It can also include heart wall defects, undescended testes, hypospadias, and distinct facial features such as prominent ears, a prominent lower jaw, a thin upper lip, and crowded teeth. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Severe developmental delay
- Seizures
- Low muscle tone (hypotonia)
- Marked slow growth
- Repeated infections
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RPL10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
This condition is caused by changes in the RPL10 gene and follows X-linked inheritance.
Also known as: x-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome.
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