Ulbright-Hodes syndrome

Ulbright-Hodes syndrome is a rare condition marked by several birth defects including abnormal kidney development (renal dysplasia), growth delays, and limb malformations such as shortened limbs (mesomelia) or missing parts (phocomelia) with fusion in the radiohumeral region. Other features include rib abnormalities, unusual external genitalia, and a distinctive facial appearance sometimes described as potter-like facies. The condition has been observed in very few cases, specifically three infants from two families. In all reported instances, the infants experienced serious breathing problems due to underdeveloped lungs and low amniotic fluid, leading to respiratory distress shortly after birth.

People with this condition typically have abnormal kidney development, growth retardation, and limb defects including shortened limbs or fusion of the upper arm and forearm bones. They also show rib abnormalities, unusual external genitalia, and a distinct facial appearance. Breathing difficulties shortly after birth due to underdeveloped lungs have been noted in the few documented cases.

Ulbright-Hodes syndrome appears to be inherited in an autosomal recessive manner, meaning that in families, a child may inherit one copy of an abnormal gene from each parent. No specific genes have been identified as causing the condition.

Information about treatment is currently limited for this condition.

In the few reported cases, the outlook has been poor, with infants experiencing severe respiratory distress soon after birth due to lung underdevelopment. Long-term quality of life data is not available due to the limited number of cases.

Information about research is currently limited for this condition.