03

Clinical
symptoms of
Stone man
syndrome
 Symptoms
The first observable symptoms of FOP (Fibrodysplasia ossificans Progressiva) is the malformation of Great toes.
a) Shortened great toe with malformed distal metatarsal bone and a missing or abnormal phalanx
b) Inward turning of the great toe towards other toes- Hallux Valgus.

Other deformities seen in majority of the patients include

a) Microdactyly
b) Clinodactyly.

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 Anatomical pattern of occurrence
01. Flare ups 02. Endochondrial 03. Immobilisation
ossification Of joints

• Sporadic • Ossification of • The ectopic bone

episodes of muscles, formed can lock
Painful soft tendons, the joints in
tissue swellings ligaments to place to render
heterotopic movements
bones

They are first seen in dorsal, axial, cranial an proximal regions of the body.

Smooth muscles such as heart, GI tract are not affected but all skeletal muscles except for
Diaphragm, Extra-ocular muscles, tongue are affected.

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 Spinal defects

1. Fusion of Facet
joints
Between C2 and C7
2. Ankylosed cervical
spine
Happens at early stages.

Kyphosis and/or Ossification of

3. scoliosis
4. paraspinal muscles

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SPINAL DEFECTS

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 Limb defects

1. Short, broad
femoral necks

2. Proximal medial tibial

osteochondromas
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 Thoracic defects

1. Thoracic
insufficiency 2. Thoracic Lordosis
Swayback of
syndrome (TIS) Thoracic spine
1. Ankylosis of
costovertebral
joints
2. Ossification of costal
muscles

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 Other defects

1. Limb swelling seen with flare-ups may be substantial and lead to extra-vascular compression of nerves and
tissue lymphatics

2. Ankylosis of Jaw causes malnutrition

3. The thoracic insufficiency syndrome (TIS) causes pneumonia and heart failure

4. In cases of deep vein thrombosis and limb swelling, treatment becomes difficult.

5. Hearing loss due to ossification of bones in middle ear

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 FOP Plus and FOP variants.
A small number of patients has clinical features unusual for FOP

FOP Plus FOP variants

Classic defining features of FOP Variations in two or more classic,
plus one or more atypical features. defining features of FOP.

The disease presents itself in 10 years, postnatally with 40-56 year lifespan

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 Some of the atypical features
1. Degenerative joint disease of hips

2. Sparse/ thin scalp hair

3. Severe Growth retardation

4. Childhood glaucoma

5. Craniopharyngoma

6. Hypospadias

7. Primary amenorrhea

8. Aplastic anaemia.

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Epidemiology
04

FOP is a very rare disease with worldwide prevalence of

approximately 1 case in 2 million individuals

No ethnic, racial or geographic predisposition has been

described.

There are fewer than 1000 cases of FOP with an

estimated number of 3000-4000 cases.

The mean age of diagnosis of FOP ranges from 3

months to 15 year
 Highest prevalence (FOP)

USA
0.88 per million
population

Europe
0.47 to 1.36 per million
population

Asia
0.11 per million
population

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