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1106 - A rare case of Schaaf-Yang Syndrome with atypical hypertonia - A case report

Friday, February 28, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

AL

Alex Landau, MD

Resident Physician
Montefiore Medical Center
New Rochelle, New York, United States

Co-Author(s)

MD

Monika Desai, MD

Division Chief, Pediatric Rehabilitation Medicine
Montefiore Medical Center/Albert Einstein COM
Bronx, New York, United States
JL

Joshua B. Lewis, MD, PhD

Resident
Montefiore Medical Center, Bronx, NY/Albert Einstein College of Medicine, Bronx, NY
Bronx, New York, United States
RG

Rohan Gogoi, MD

Resident Physician
Montefiore
Scarsdale, New York, United States

Case Diagnosis: Schaaf-Yang Syndrome

Case Description: A 4-month-old female with Schaaf-Yang presented to the Pediatric Rehab clinic with global developmental delay, hypertonicity, and dysphagia (now G-tube dependent). At birth the patient was seen by plastic surgery due to concern for hand contractures but was recommended to defer surgery and referred to Pediatric Rehab for management of care. Initial treatment plan included referral to pediatric occupational therapy for splint modification, enrollment with pediatric speech language pathology for dysphagia and feeding difficulties, and daily hand-stretching modalities.

Discussions: Schaaf-Yang is a rare genetic disorder, often characterized by global developmental delay, neonatal hypotonia, feeding difficulties, and respiratory distress. The estimated prevalence of this disease is < 1/1,000,000. Given its rarity our understanding of the disease is limited to case reports, however it has been noted to have partial overlap with Prader Willi Syndrome. Patients have phenotypic characteristics including dysmorphic facial features, interphalangeal joint contractures, neonatal hypotonia, endocrine abnormalities, and behavioral dysregulation. Herein we report an atypical case of Schaaf-Yang Syndrome with hypertonia.

Conclusions: This case illustrates the challenges of managing abnormalities of muscle tone in individuals with Schaaf-Yang Syndrome. Hypotonia is more common in affected individuals, however hypertonia can also occur. Age is a limiting factor in choosing appropriate interventions. Early physical therapy with a focus on gross motor skills decreases risk of orthopedic complications, such as progressive contractures, scoliosis, and hip dislocations. Early therapy integration with a focus on fine motor skills improves mobility and coupling early intervention orthoses are essential in preventing worsening contractures. If a patient becomes hypertonic, muscle relaxers such as Baclofen, tizanidine, or Botox injections can be effective treatments.