Living with Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
A rare genetic condition (cerebro-facio-thoracic dysplasia) with intellectual disability, distinct facial features, and rib and spine bone differences.
Understanding Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
It causes severe intellectual disability, distinct facial features, and rib and spine bone differences. Speech and movement skills are delayed, and in some people they never develop. Nearly one-quarter never learn to speak and almost half cannot walk. Some infants have low muscle tone and feeding trouble. Many people are described as friendly and good-natured, though some have anxiety, autism spectrum disorder, or self-injury.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Distinct facial features
- Rib differences, such as split ribs
- Spine bone differences
- Delayed speech and movement
- Feeding difficulties
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TMCO1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
It is caused by changes in the TMCO1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cerebrofaciothoracic dysplasia; cfsmr1; pascual-castroviejo syndrome type 1
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 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1.
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