Introduction: Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by progressive heterotopic ossification that forms normal bone in characteristic extra-skeletal sites. The prevalence is approximately 1/2,000,000. Children who have FOP appear normal at birth except for congenital malformations of the great toes. Trauma or stress will transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible. Cervical agenesis represents about 3% of all uterine anomalies.  It is estimated that only 4.8% of women with cervical agenesis have a functioning uterus. We describe a case report of cervical agenesis with functioning uterus that presented in 15 years old with underlying FOP; a combination of rare diseases.

Case Description: A 15 year old girl with ACVR1 mutation, was referred from genetic clinic for further investigation for primary amenorrhoea. She complained of 6 months cyclical abdominal pain. Examination revealed her secondary sexual characteristics are well formed.  A pelvic mass with size of 18 week uterus was palpable. Ultrasound pelvis and MRI pelvis showed a bicornuate bicollis uterus with hematometra. Left fallopian tube was enlarged with hematosalphinx. No evidence of hematocolpos or vaginal septum was seen. Perineum and vagina examination and hysteroscopy was performed under sedation as there is difficulty in obtaining regional anaesthesia as her spine was severely malformed with extra-skeleton bone. It was challenging for anaesthetist as the patient had a restrictive lung function. Vagina was normal with no septum. The cervix appeared normal, however there is no communication between cervix and uterine corpus. A biopsy was taken and confirmed squamous cell from ectocervix.

Conclusion: FOP is the severe form of genetic disease and surgical management is challenging. Cervical atresia is curable with operative management, but patient’s underlying medical condition, retaining of fertility should be considered before embarking on any operations especially in this case.