Overview
Microcephalic primordial dwarfism, Dauber type, is an extremely rare genetic condition characterized by very short stature that begins before birth and a smaller-than-normal head size (microcephaly). The term 'primordial dwarfism' means that growth restriction starts very early in development, even before a baby is born, and continues after birth. Children and adults with this condition are significantly shorter than their peers, and their head circumference is notably smaller than average, though intellectual development may be relatively preserved compared to some other forms of primordial dwarfism. This condition is caused by changes (mutations) in a gene involved in growth signaling pathways. Because the condition affects overall body growth from the earliest stages of development, individuals tend to have proportionate short stature, meaning their body parts are small but generally in proportion to each other. Some individuals may also have mild facial differences and other subtle physical features. There is currently no cure for this condition. Treatment focuses on monitoring growth, managing any associated health concerns, and providing supportive care. Growth hormone therapy has been explored in some forms of primordial dwarfism, but its effectiveness in this specific type may be limited. Regular follow-up with specialists is important to track development and address any complications that may arise over time.
Key symptoms:
Very short stature present from birthSmaller-than-normal head size (microcephaly)Low birth weightShort body length at birthProportionate short stature throughout lifeDelayed growth milestonesMild facial differencesThin body buildSmall hands and feetPossible mild learning difficulties in some cases
Clinical phenotype terms (22)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephalic primordial dwarfism, Dauber type.
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Specialists
View all specialists →No specialists are currently listed for Microcephalic primordial dwarfism, Dauber type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microcephalic primordial dwarfism, Dauber type.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic change was found, and what does it mean for my child's health?,Is growth hormone therapy an option, and what are the expected benefits and risks?,What developmental milestones should we watch for, and when should we be concerned?,Are there any other health complications we should screen for regularly?,What early intervention or therapy services would benefit my child?,Is there a risk that future children could also have this condition?,Are there any clinical trials or research studies we could participate in?
Common questions about Microcephalic primordial dwarfism, Dauber type
What is Microcephalic primordial dwarfism, Dauber type?
Microcephalic primordial dwarfism, Dauber type, is an extremely rare genetic condition characterized by very short stature that begins before birth and a smaller-than-normal head size (microcephaly). The term 'primordial dwarfism' means that growth restriction starts very early in development, even before a baby is born, and continues after birth. Children and adults with this condition are significantly shorter than their peers, and their head circumference is notably smaller than average, though intellectual development may be relatively preserved compared to some other forms of primordial d
How is Microcephalic primordial dwarfism, Dauber type inherited?
Microcephalic primordial dwarfism, Dauber type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephalic primordial dwarfism, Dauber type typically begin?
Typical onset of Microcephalic primordial dwarfism, Dauber type is neonatal. Age of onset can vary across affected individuals.