A rare case of siblings with Schwartz–Jampel-like syndrome

Schwartz–Jampel Syndrome (SJS) is a rare autosomal recessive disorder marked by myotonia, skeletal abnormalities, facial dysmorphism, and systemic involvement. First described by Schwartz and Jampel, it results from mutations in the PERLECAN/HSPG2 gene (chr 1p36-1p35), leading to neuromuscular and skeletal defects.[1] Ocular features typically include blepharophimosis, ptosis, and occasionally strabismus, while lenticular subluxation is rarely noted. We report a case of three siblings from a third-degree consanguineous marriage, two of whom showed classic SJS features. This unique photo essay highlights phenotypic variability of SJS in siblings, from severe ocular involvement to an apparently normal infant, and reports the first known case of bilateral inferior lens subluxation in such a setting, expanding the ocular spectrum of SJS. A 7-year-old girl, the eldest of three siblings born to third-degree consanguineous parents, presented during her brother’s ophthalmic evaluation. She had restricted joint movements and facial dysmorphism, flattened facies, crowded teeth, high-arched palate, low-set ears, trichomegaly, and short neck, developing after age two [Figure 1b and e]. Birth history revealed feeding difficulties and delayed motor milestones, though cognitive development was normal [Figure 1a]. Systemic exam showed joint contractures, bilateral tibial bowing, and limited knee flexion [Figure 1c]. She had subnormal height, weight (13.5 kg), and head circumference [Figure 1d]. Systemic exam showed joint contractures, bilateral tibial bowing, and limited knee flexion. Ocular findings included bilateral blepharophimosis, chin-up posture, and myopic astigmatism with best-corrected vision of 6/24 OU [Figure 1b]. Anterior segment and fundus were normal, with axial lengths of 19 mm (LE) and 20 mm (RE). Overall findings suggested a SJS-like phenotype (type I).Figure 1: clinical photographs of case 1, (a) child at 1 year age with normal facies, (b) present picture (7 year) showing blepharophimosis, pursed mouth, puckered chin, inset-high arched palate, (c) upper limb joint contracture, (d) short stature for age, (e and f) side view of face showing retrognathia, low set ears with short neckThe 5-year-old male sibling showed more severe systemic and ocular features. He had a pursed mouth, puckered chin, retrognathia, high-arched palate, low-set ears, and short neck [Figure 2b and d]. Short stature, limb contractures, pigeon chest, and prominent myotonia were noted [Figure 2c]. Facies appeared normal until age one [Figure 2a]. The weight was 8 kg, with subnormal height and head circumference. He could fix and follow light but had severe bilateral blepharophimosis with chin-up posture, like his sister [Figure 2b]. Slit lamp exam showed inferior lens subluxation in the right eye (RE) and inferotemporal dislocation in the left—rare in SJS [Figure 2e]. Fundus showed bilateral disc pallor, vessel tortuosity, and peripapillary atrophy. Cycloplegic retinoscopy revealed high hyperopia (+8.00D RE, +7.00D LE) through aphakic zones. Axial lengths were 22 mm (left eye [LE]) and 23 mm (RE). Blood counts, thyroid profile, and echo scan were normal. Genetic testing showed a homozygous missense variant in exon 9 of the MFN2 gene (uncertain significance). Karyotyping wasn’t done due to financial constraints. Features supported a diagnosis of SJS-like syndrome (Type I).Figure 2: clinical photographs of case 2, (a) child at 6 month age with normal facies, (b) present picture (5 year) showing blepharophimosis, pursed mouth, puckered chin, inset-high arched palate, (c) short stature for age with lower limb contracture, pigeon breast with prominent myotonia, inset-upper limb contracture, (d) side view of face showing retrognathia, low set ears with short neck, (e) ocular examination showing OD-inferior lens subluxation OS-inferotemporal lens dislocationThe youngest sibling, a 10-month-old male, had a normal birth and development with unremarkable systemic and ocular exams [Figure 3]. Close follow-up was advised, with a recommendation for whole genome sequencing and karyotyping due to the siblings’ phenotype.Figure 3: clinical photograph of case 3: normal facies in the third sibling (10 months)Bastola P reported superotemporal lens subluxation with blepharophimosis in a 13-year-old girl, along with choroidal sclerosis and myopia.[2] In our series, the elder sibling had a normal fundus, while the second child showed bilateral disc pallor and vessel tortuosity. Blepharophimosis correction is planned for the first child, while for the second child, pars plana lensectomy will be deferred until surgical fitness improves; aphakic glasses will be used to prevent amblyopia. A study from a tertiary eye care center (western Maharashtra) highlights that timely surgical intervention combined with regular follow-up plays a crucial role in enhancing visual outcomes after paediatric cataract surgery.[3] Bouchikh-El Jarroudi et al. proposed oral sodium channel blockers and intramuscular Botulinum toxin as presurgical measures for blepharophimosis management in SJS patients.[4] Anesthesia-related risks such as a difficult airway and malignant hyperthermia must be considered during surgery. Literature mentions surgical options such as botulinum toxin, levator resection, orbicularis myectomy, lateral canthopexy, and tarsal strip with good outcomes.[5] Myotonia may be managed with carbamazepine or phenytoin. Surgical risks include difficult airway, jaw stiffness, malignant hyperthermia, and skeletal deformities. This photo essay presents a rare phenotype of bilateral inferior lens subluxation in SJS, which, to the best of our knowledge, represents only the second such case reported in the literature. It underscores a unique ocular manifestation and broadens the known clinical spectrum of this rare genetic disorder and highlights the phenotypic variability of SJS. Multidisciplinary care is essential, including genetic counseling, physiotherapy, orthopedics, pediatrics, occupational therapy, plastic surgery, and ophthalmology. Support includes chest physiotherapy, speech therapy, and psychiatric care for cognitive and developmental support. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Data availability statement The data supporting the findings of this study will be made available upon reasonable request. Financial support and sponsorship Nil. Conflict of interest There are no conflicts of interest.