Genomic coordinate (human 10:121,478,330 FGFR2) & (mouse 7,129,764,181 Fgfr2).
Cytoband (human 10q26.13 FGFR2) & (mouse 7qF3 Fgfr2).
Here I present: “Beare-Stevenson Cutis-gyrata Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FGFR2) icd10=Q87.8
INTRODUCTION.
Beare–Stevenson (Cutis-gyrata) Syndrome (BSS) is a severe craniosynostosis syndrome caused by mutations in the FGFR2 (fibroblast growth factor receptor-2) gene.
Core Features.
BSS is characterized by a distinctive combination of skull, skin, and craniofacial findings:
1. Craniosynostosis
Premature fusion of cranial sutures, often involving multiple sutures
Leads to abnormal head shape, increased intracranial pressure, and potential brain compression
2. Cutaneous abnormalities (hallmark)
Cutis gyrata: thick, ridged, furrowed skin—especially on the scalp
Acanthosis nigricans (dark, velvety skin folds), often widespread
Skin findings are unusually prominent compared with other FGFR2 syndromes
3. Craniofacial anomalies
Prominent eyes (proptosis)
Midface hypoplasia
Choanal stenosis or atresia (airway obstruction risk)
Cleft palate may occur
4. Other findings
External ear abnormalities
Genital anomalies (especially in males)
Developmental delay (variable; often secondary to cranial/neurologic issues)
Genetics & Pathophysiology
Gene: FGFR2
Mutation type: Gain-of-function
Inheritance: Autosomal dominant, but most cases are de novo
FGFR2 overactivation → excessive bone formation at sutures and abnormal epidermal proliferation, explaining the combined bone–skin phenotype
BSS is allelic with other FGFR2 disorders such as:
Apert syndrome
Crouzon syndrome
Pfeiffer syndrome
…but distinguished by its extreme skin manifestations
Diagnosis.
Clinical recognition based on craniosynostosis + cutis gyrata
Molecular confirmation via FGFR2 sequencing
Prenatal ultrasound may detect craniosynostosis in severe cases
Management.
There is no cure; treatment is multidisciplinary and supportive:
Early cranial surgery to relieve intracranial pressure
Airway management (may be life-saving)
Ophthalmologic protection for exposed eyes
Dermatologic care for skin complications
Developmental and neurologic monitoring
Care typically involves:
craniofacial surgery, neurosurgery, ENT, dermatology, genetics, and pediatrics
Prognosis.
Often poor, especially in severe neonatal cases
Complications arise from:
Airway obstruction
Elevated intracranial pressure
Infections
Survivors may have significant medical and developmental challenges
One-Line Summary.
Beare–Stevenson syndrome is a FGFR2-related craniosynostosis syndrome uniquely marked by severe scalp ridging (cutis gyrata) and extensive skin thickening, alongside life-threatening craniofacial abnormalities.
Beare-Stevenson syndrome (BSS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death.
There is evidence that Beare-Stevenson syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR2) gene encoded on genomic coordinate 10:121,478,330 and cytoband 10q26.13 in humans.
