Overview
Absent radius-anogenital anomalies syndrome is an extremely rare condition that combines skeletal abnormalities, particularly the absence of the radius bone in the forearm, with abnormalities of the genital and anal (anogenital) region. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:3016) and falls under the broader category of multiple congenital anomaly syndromes. The hallmark feature is bilateral or unilateral absence of the radius, which is one of the two long bones in the forearm. This causes the hands and wrists to be positioned abnormally, often with the hand deviated toward the thumb side. In addition, affected individuals may have imperforate anus (where the anal opening is absent or blocked), genital malformations such as ambiguous genitalia or underdeveloped reproductive structures, and kidney abnormalities. Some patients may also have other skeletal differences, such as thumb abnormalities. Because this syndrome is so rare, there is no standardized treatment protocol. Management is largely supportive and surgical, focusing on correcting or improving the skeletal deformities through orthopedic procedures, repairing anal malformations through surgery in the newborn period, and addressing any urogenital anomalies. A multidisciplinary team approach is essential for the best outcomes. Early intervention and ongoing monitoring are important to support development and quality of life.
Key symptoms:
Absent radius bone in one or both forearmsAbnormal positioning of the wrist and handThumb abnormalities or absent thumbsImperforate anus (blocked or absent anal opening)Genital abnormalities or ambiguous genitaliaKidney malformationsShortened forearmsDifficulty with hand and arm functionPossible urinary tract abnormalitiesPossible vertebral or spinal anomalies
Clinical phenotype terms (9)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Absent radius-anogenital anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Absent radius-anogenital anomalies syndrome.
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 Absent radius-anogenital anomalies syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the full extent of my child's skeletal and organ abnormalities?,What surgeries will be needed and in what order?,Should we pursue genetic testing to look for an underlying cause?,What is the expected level of arm and hand function my child can achieve?,Will my child need a bowel management program after anorectal surgery?,Are there kidney or heart abnormalities that need monitoring?,What is the chance of this condition occurring again in a future pregnancy?
Common questions about Absent radius-anogenital anomalies syndrome
What is Absent radius-anogenital anomalies syndrome?
Absent radius-anogenital anomalies syndrome is an extremely rare condition that combines skeletal abnormalities, particularly the absence of the radius bone in the forearm, with abnormalities of the genital and anal (anogenital) region. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:3016) and falls under the broader category of multiple congenital anomaly syndromes. The hallmark feature is bilateral or unilateral absence of the radius, which is one of the two long bones in the forearm. This causes the hands and wrists to be positioned abnormally, often with the hand
At what age does Absent radius-anogenital anomalies syndrome typically begin?
Typical onset of Absent radius-anogenital anomalies syndrome is neonatal. Age of onset can vary across affected individuals.