Living with Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
A very rare condition with scaly skin from birth, intellectual disability, short height, and kidney problems.
Understanding Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
It is present from birth. GARD says it has been described in four members of one Iranian family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scaly skin and redness from birth (ichthyosis)
- Intellectual disability
- Severe short stature
- Poor weight gain (failure to thrive)
- Clouding of the eye lens (cataract)
- Tooth and fingernail differences
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, eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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 genes cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital ichthyosis, mental retardation, dwarfism and renal impairment; ichthyosis intellectual deficit dwarfism renal impairment; ichthyosis mental retardation dwarfism renal impairment; passwell goodman ziprkowski syndrome; passwell-goodman-siprkowski syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis-intellectual disability-dwarfism-renal impairment syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome.
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