This document provides an overview of dwarfism (bone dysplasias), including classification, causes, signs and symptoms, radiographic findings, and treatment for various types. It discusses proportionate vs disproportionate dwarfism and classifications based on location and source. Specific types covered include achondroplasia, spondyloepiphyseal dysplasia, chondrodysplasia punctata, Kniest syndrome, metaphyseal chondrodysplasia, multiple epiphyseal dysplasia, and mucopolysaccharidoses. Treatment focuses on managing skeletal deformities and complications.

1. DWARFISM
Presentation by- Nikhil .S.U
Chair person - Dr Ravishankar
Co-chair person- Dr Prakash
JSS hospital, Mysore

2. Introduction
 Bone dysplasias ( Dwarfism)
 Greek word – Dys- disordered
Plasia – development
 Shortening of the growing bones in
different proportions due to multiple gene
defects
 >200 disorders, abnormal growth of
bones and cartilage
 Height less than 147cms, <3rd percentile

3. Classification
 Proportion
 Proportionate- symmetric decrease in
both trunk and limb length. eg-constitutional,
familial, endocrinopathies,
mucopolysaccharidoses.
 Disproportionate dwarfism:-
1. Short-trunk variety (e.g., Kniest
syndrome–spondyloepiphyseal)
2. Short-limb variety (e.g.,
achondroplasia, diastrophic dysplasia)

4.  Based on location in short limb variety
rhizomelic = root, e.g., bones of the arm
or thigh
mesomelic = middle, e.g., bones of the
forearm or leg
acromelic = end, e.g., bones of hands
and feet.
micromelic = entire limbs are shortened

5.  Source
chondro = of cartilage
osteo = of bone
spondylo = of the vertebrae

6.  Lethal
Achondrogenesis
Thanatophoric dysplsia
Asphyxiating thoracic dysplasia(ATD)
Dysplasia epiphysealis punctata
Osteogenesis imperfecta
 Non leathal
Majority of dysplasia

7. Achondroplasia
 Syn; chondrodystrophia fetalis
 Most common form of disproportionate
dwarfism
 AD
 Incidence - 1.5 per 10,000 live births.
 GENETICS
 Spontaneous mutation in Fibroblast Growth
Factor Receptor 3(FGFR 3)
 There is failure in the cartilaginous
proliferative zone of physis- quantitative
defect
 Associated with advanced paternal age

8.  Signs and symptoms
Normal trunk and short limbs with
hypotonia

9.  Lumbar stenosis & excessive lordosis
with spinal cord / nerve root
compression
 Radial head subluxation
 Normal intelligence but delayed motor
milestones

10. Radiographic findings
 Spine: narrowed interpedicular
distance(L1 to S1)
 pedicular shortening
 T12/L1wedging,
generalized posterior
vertebral scalloping

11.  Bullet shaped vertebral bodies
 Thick short pedicles
 Lumbosacral hyperlordosis

14. Treatment
 Lumbar stenosis: decompression
(laminectomy & discectomy) and fusion
of the spine for a developing neurologic
deficit (usually in children older than age
10)
 Posterior fusion of cervical spine is
recommended in individual cases
 Foramen magnum stenosis:
decompression
 Progressive kyphosis: if fail bracing,
anterior and posterior fusion are
indicated for residual kyphosis greater
than 50 degrees by age 5 years.

15.  Genu varum: Tibial osteotomies or
hemiepiphysiodesis
 Limb lengthening - adolescence
usually is the time when lengthening is
undertaken through callodiastasis
(lengthening through a metaphyseal
corticotomy) have been well
described, with a high rate of
complications.
 Growth hormone is being used to
augment the height

16. SPONDYLOEPIPHYSEAL
DYSPLASIA
 Defect in gene encoding Type 2
collagen
 Abnormal epiphyseal development in
the upper and lower extremities-disproportionate
dwarfism
 Retinal detachment and respiratory
problems are common.

17.  Eyes are wide-set, the neck is short,
and the chest appears barrel shaped.
 Genu valgum, is common.
 Lumbar lordosis may be accentuated
and is usually due to hip flexion
contractures. The lordosis gives the
abdomen a protuberant appearance.
 A waddling gait is produced by the
coxa vara

18.  Generalised severe platyspondyly
 Increased intervertebral disc height
 Open staircase vertebrae
 Kyphosis/ scoliosis
 Widening sclerosis irregularity of
tubular bones
 Irregular femoral epiphysis
 Retarded bone maturation

19. Treatment
 In case of cervical instability- posterior
cervical fusion from the occiput or C1
to C2 with halo vest immobilization is
necessary
 When the scoliosis exceeds 50
degrees or is associated with
significant kyphosis, fusion with
standard instrumentation is effective

20.  Valgus osteotomy when the neck–
shaft angle is less than 100 degrees,
when the Hilgenreiner–epiphyseal
angle is greater than 60 degrees

21. CHONDRODYSPLASIA
PUNCTATA
 Multiple punctate calcifications seen on
radiographs during infancy.
 2 types
1. Conradi-Hünermann syndrome- XR-normal
life expectancy(arylsulfatase E (ARSE)
gene mutation)
2. Autosomal recessive- fatal during the first
year of life, rhizomelic form.
 Short stature, dry and scaly skin, occasional
heart defects, and cataracts and spinal
deformities are common.
 Congenital vertebral anomalies - scoliosis or
kyphosis

22.  Strippling / punctate calcification
tarus, carpus, long bone epiphysis,
vertebral transverse process, ischium
& pubis
 Soft tissue calcification around the
joints present

23. Treatment
 Orthopaedic treatment consists primarily
of managing the scoliosis- early anterior
and posterior spinal fusion
 Prognosis ; bad prognosis, most patients
die due to respiratory complications by 1
year of age

24. KNIEST SYNDROME
 Defect in COL2A1 gene
 AD- short-trunked, disproportionate
dwarfism with joint
stiffness/contractures, scoliosis,
kyphosis, and hypoplastic pelvis and
spine
 Otitis media and hearing loss are
frequent.

25.  Radiology ; Osteopenia and dumbbell-shaped
bones

26.  Treatment ;
Early therapy for joint contractures,
Reconstructive procedures for early
hip degenerative arthritis
Correction of the spinal deformity

27. METAPHYSEAL
CHONDRODYSPLASIA
 Heterogeneous group of disorders
characterized by metaphyseal
changes of tubular bones with normal
epiphyses
 Defect in the proliferative and
hypertrophic zones of the physis

28. Types

29. Schmid type
 More common, less severe
 Genetic defect is in type X collagen-
AD
 Short-limbed dwarfism not diagnosed
until patient is older
 Metaphyseal flaring & irregularity with
widening of physis.
 Enlarged capital femoral epiphysis

31. treatment
 Valgus osteotomy of the proximal
femur may be indicated for children
with significant coxa vara

32.  Recurrence of deformity with growth is
common.
 Hemiepiphysiodesis or stapling may
improve angular deformities in some
children.

33. Jansen type
 Rare and most severe- AD
 Genetic defect in parathyroid
hormone–related peptide
 Retardation, markedly short-limbed
dwarfism with wide eyes, monkey-like
stance, and hypercalcemia
 x ray shows triking bulbous
metaphyseal expansion of long bones

34. McKusick type
 AR-
 Cartilage-hair dysplasia (hypoplasia of
cartilage and small diameter of hair)
 Most common in the Amish population and in
Finland
 Atlantoaxial instability is common
 Ankle deformity develops as a result of fibular
overgrowth distally.
 Abnormal immunocompetence, increased
risk for malignancies, intestinal
malabsorption, and megacolon

36. treatment
 Orthopaedic treatment is usually
directed toward the ankle and foot-calcaneal
sliding osteotomy as
treatment for hindfoot varus
 Growth hormone has recently been
used

37. MULTIPLE EPIPHYSEAL
DYSPLASIA
 COMP gene mutation(Cartilage
oligomeric matrix protein )
 Prevalence of MED was 9 per 100,000
 Short-limbed, disproportionate
dwarfism often not manifested until
between the ages of 5 and 14.
 A mild form (Ribbing) and a more
severe form (Fairbanks) exist
 Waddling gait, and early hip arthritis
are common

38.  Irregular, delayed ossification at
multiple epiphyses
 Short, stunted metacarpals and
metatarsals, irregular proximal femora,
abnormal ossification (flattened tibial &
femoral condyles, patella
with double layer),
valgus knees

39. Multiple epiphyseal dysplasia.
Abnormal femoral heads
Flattened tibial &
femoral condyles

40.  Treatment :
 Caution regarding weight gain
 Treat limb alignment and perform
early joint replacement
 Shelf acetabular augmentation in
some patients - to improve coverage
of the misshapen femoral head
 Osteotomies may be helpful in
realigning the lower extremities when
angular deformities exist, particularly
at the knee

41.  stapling may provide correction in
some cases

42. DD s for MULTIPLE
EPIPHYSEAL DYSPLASIA
 Perthes disease - usually affects
unilateral hip but when bilaterals each
hip is in a different stage of the
disease.- this is not the case in MED
 Spondyloepiphyseal dysplasia-abnormal
epiphyseal development
with typical spine involvement which is
not found in MED

43. MUCOPOLYSACCHARIDOSIS
 Due to hydrolase(lysosomal storage
disorder) enzyme deficiency-mucopolysaccharides
accumulate in
the body & produce proportionate
dwarfism.
 Normal mucopolysaccharide excretion
in urine <15mg/24 hrs
 It wil be >100mg/24hrs

44. All are AR, autosomal recessive; except MPS 2-XR, X-linked
recessive.

45. Hurlers syndrome

46.  The facies coarse and heavy.
 The head is enlarged, and hydrocephalus-meningeal
deposits.
 The skull is abnormally shaped, and the forehead is low.
 Premature closure of the sagittal and metopic sutures of the
skull leads to a prominent longitudinal ridge that may cross
the forehead.
 The ears are low and the eyes are wide-set.
 The teeth are poorly formed and widespread.
 The nostrils are wide, and the nose has a depressed bridge
and broad tip.
 The lips are everted, the tongue is enlarged, and the mouth
is open. “Chronic rhinitis” with noisy mouth-breathing is
always present and is due to narrowing of the nasopharynx
by enlarged adenoids and mucosal deposits.
 This, combined with the presence of hernias, may be the
presenting sign of the disease
 Clouding of the cornea is a universal feature of the disease

47.  Urinary excretion of dermatan/heparan
sulfate
 Treatment
 Bone marrow transplantation has
increased the life span for patients
with this disorder- Transplantation
before the age of 24 months yields
better clinical results

48.  Surgical reconstruction, including
reduction, femoral osteotomy, and
pelvic osteotomy- for Hip dysplasia
 Carpal tunnel syndrome- Treated by
surgical decompression

49. Hunter syndrome
Bone marrow transplantation has been used in isolated cases of Hunter's syndrome

50. Morquio syndrome

53. Bullet-shaped metacarpals

54. Wide, unossified femoral heads
Wine-glass shaped inner pelvic contour

55. treatment
 Manifesting myelopathy necessitates
decompression and cervical fusion
 Genu valgum may be treated by
realignment osteotomy
 Carry substantial anesthetic risk
because of their cervical instability and
respiratory and cardiac abnormalities

57. Thanatophoric dysplasia
 Disproportionately small ribcage,
extremely short limbs and folds of
extra skin on the arms and legs
 lethal skeletal dysplasia
 Narrow chest, small ribs and under
developed lungs

60.  Children with this condition are usually
stillborn or die shortly after birth from
respiratory failure
 Survivors have difficulty breathing on
their own and require respiratory
support

61. DIASTROPHIC DYSPLASIA
 AR.
 Deficiency in sulfate transport protein
 Features
 Severe, short-limbed dwarfism
 Cleft palate (59% of cases)
 Severe joint contractures (especially hip and
knee)
 Cauliflower ears (80% of cases), hitchhiker’s
thumb
 Rigid clubfeet

62. Hitchhiker’s thumb
Cleft palate

63.  Radiologic findings
 Spine radiographs reveal cervical
kyphosis (often severe, necessitating
immediate treatment), thoracolumbar
kyphoscoliosis
 (83% of cases), spina bifida occulta,
and atlantoaxial instability.

64.  Treatment
 Quadriplegia is a major concern with
deformities of the cervical spine.
 Surgical release of clubfoot deformities
 Osteotomies for contractures
 Spinal fusion often required- Anterior fusion
with fibular strut grafting and posterior
fusion with halo immobilization

65. CLEIDOCRANIAL DYSPLASIA
(DYSOSTOSIS)
 AD
 Proportionate dwarfism that affects
bones formed by intramembranous
ossification (clavicles, cranium, pelvis)
 Defect in -Core-binding factor alpha 1
(Cbfa1)- transcription factor for
osteocalcin

68.  Delayed closure of skull sutures,
frontal bossing
 Treatment
Excision of the clavicular fragments
can decompress the brachial plexus
Intertrochanteric valgus osteotomy if
neck-shaft angle is less than 100
degrees

69. Summary

74.  At the end of the survey &
investigation prognosis has to be
conveyed to the family members
which includes genetic counselling
and appropriate occupation
Dysplastic may be of short
stature but not a lesser
human being.

75. References
 Tachdjian's Pediatric Orthopaedics
 Review of Orthopaedics- Miller
 Radiology of syndromes, metabolic
disorders & skeletal dysplasia- Taybi &
Lachman’s
 Essentials of skeletal radiology- Yochum
& Rowe’s
 Turek s orthopaedics
 Campbell's Operative Orthopaedics
 Wikipedia

76. Thank you