cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-deafness-sacral lipoma syndrome, also known as Lowry-Yong syndrome, is a condition marked by craniofacial anomalies, severe sensorineural hearing impairment, and a sacral lipoma. It was originally described in two brothers of Chinese origin born to nonconsanguineous parents. This condition is very rare, affecting fewer than 1 in 1,000,000 people. Although the genetic basis has yet to be defined, the pattern observed in the initial case reports suggests a possible autosomal or X-linked recessive mode of inheritance.

The clinical presentation is defined by distinctive facial and skeletal features along with profound hearing loss. Affected individuals typically show cleft lip and/or cleft palate combined with severe sensorineural hearing impairment and a sacral lipoma. Additional features reported include facial asymmetry, depressed nasal ridge, ataxia, sparse scalp hair, meningocele, hip dislocation, absent nasal septal cartilage, tooth agenesis, and lower limb asymmetry. Not all individuals experience every feature, and severity varies considerably.

The precise genetic basis of cleft lip/palate-deafness-sacral lipoma syndrome is currently under investigation, and no specific genes have been definitively linked to the condition. Evidence from the initial case reports suggests that the syndrome may follow an autosomal or X-linked recessive pattern, implying that affected individuals inherit genetic factors from both parents. Given the uncertainty regarding its molecular mechanism, families are encouraged to seek genetic counseling to better understand the potential risks for future pregnancies.

Currently, management focuses on supportive care and symptom management rather than any specific, targeted therapy. Treatment is tailored to the individual and typically involves a multidisciplinary team, including craniofacial surgeons, audiologists, and orthopedic specialists to address the cleft, hearing impairment, and skeletal abnormalities. Interventions may include surgical repair of cleft lip/palate, hearing aids or cochlear implants for deafness, and orthopedic care for associated skeletal challenges. Genetic counseling is also recommended to provide guidance on family planning and further evaluation.

Outcomes for cleft lip/palate-deafness-sacral lipoma syndrome vary widely depending on the severity of the craniofacial, auditory, and orthopedic features, as well as the availability of specialized care. With current standards of care, individuals can often achieve significant improvements in quality of life and functional abilities, although challenges related to speech, hearing, and physical development may persist. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with specialists, patient support groups, and genetic counselors for personalized guidance.