Living with Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
A rare inherited condition with a small head, cataracts from birth, a scaly skin rash, slow growth, and mild developmental delay.
Understanding Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
It is a rare disorder of how the body makes cholesterol-like fats (sterol biosynthesis). People have a small head, cataracts in both eyes from birth, mild developmental delay, and short stature. They also have a skin condition that looks like psoriasis, and the immune system may not work as it should. Behavior concerns, joint contractures, and joint pain have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Clouding of the eye lens at birth (cataract)
- Psoriasis-like skin rash (psoriasiform dermatitis)
- Short stature
- Delays in reaching developmental milestones
- Dry, scaly skin (ichthyosis)
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MSMO1 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
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 MSMO1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mccpd; microcephaly, congenital cataract, and psoriasiform dermatitis; microcephaly, congenital cataract, psoriasiform dermatitis syndrome; sc4mol deficiency; smo (sterol-c4-methyl oxidase) deficiency; smo deficiency
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome.
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