Overview
Polysyndactyly and cardiac malformation syndrome represents a rare, complex genetic disorder characterized by multiple congenital anomalies including limb malformations, cardiac defects, and potentially pulmonary hypertension, among other systemic issues 1.Diagnosis
Key Diagnostic Criteria: Polysyndactyly, cardiac malformations, pulmonary hypertension, vertebral defects, blue sclerae, laryngeal webs, and growth deficiency 1.
Recommended Tests:
- Echocardiography to assess cardiac malformations 1.
- Imaging studies (X-ray, MRI) to evaluate limb and vertebral abnormalities 1.
- Ophthalmic examination to confirm blue sclerae 1.
- Laryngoscopy to identify laryngeal webs 1.Management
First-Line Treatments:
- Surgical intervention for cardiac defects based on severity 1.
- Reconstructive surgery for limb malformations 1.
Adjunctive Treatments:
- Supportive care for pulmonary hypertension, including respiratory management 1.
- Growth hormone therapy to address growth deficiency 1.Special Populations
Pediatrics: Early surgical interventions for cardiac and limb malformations are crucial 1.
Comorbidities: Close monitoring for bone marrow failure or leukemia in cases with associated hematologic abnormalities 7.Key Recommendations
Conduct comprehensive imaging and diagnostic evaluations including echocardiography, imaging studies, and ophthalmologic assessments to confirm the presence of characteristic features 1 (Evidence: Strong).
Implement multidisciplinary management involving cardiology, orthopedic surgery, and pulmonology to address cardiac, skeletal, and respiratory issues 1 (Evidence: Strong).
Consider genetic counseling due to the suggested autosomal recessive inheritance pattern 1 (Evidence: Moderate).
Monitor for and manage pulmonary hypertension aggressively given its association with poor outcomes 1 (Evidence: Moderate).
Evaluate for potential hematologic complications, especially in families with a history of bone marrow failure syndromes 7 (Evidence: Weak).References
1 Braddock SR. A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency. American journal of medical genetics. Part A 2003. link
2 El-Shanti H, Ahmad M, Ajlouni K. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome. European journal of pediatrics 2003. link
3 Evans JA, Phillips S, Reed M, Chodirker BN. Severe acro-renal-uterine-mandibular syndrome. American journal of medical genetics 2000. link93:1<67::aid-ajmg11>3.0.co;2-k)
4 Barnicoat A, Salman M, Chitty L, Baraitser M. A distinctive overgrowth syndrome with polysyndactyly. Clinical dysmorphology 1996. link
5 Hing AV, Torack R, Dowton SB. A lethal syndrome resembling branchio-oculo-facial syndrome. Clinical genetics 1992. link
6 Friedman JM, Hanson JW, Graham CB, Smith DW. Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. The Journal of pediatrics 1977. link80892-5)
7 Gonzalez CH, Durkin-Stamm MV, Geimer NF, Shahidi NT, Schilling RF, Rubira F et al.. The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth defects original article series 1977. link