6. Hereditary Multiple Exostosis
Hard lumps (enlarge later) at ends of long bones and
along apophyseal borders of scapula / pelvis. (lumps
pressure on nerve/vessels).
severely affected bones become short.
Typical:
Wrist ulnar deviation, Radius bowing/subluxation,
Valgus knees/ankles
Unrestricted transverse growth of cartilagenous
physis (growth late)– Exostosis
Treatment:
Removal of exostosis.
Osteotomy for deformities .
7.
8.
9. Achondroplasia (commonest short stature)
• Stunted growth,
• limbs short proximal segment/large skull with
prominent forehead and saddle shaped nose
• Fingers stubby(trident hands)
• Joint laxity
• Thoracolumbar kyphosis in (infants) disappears
later in a year
• Trunk longer than limbs (childhood)
• Back lordosis, buttock prominent
• (adulthood) vetebral pedicles shortening-
ivdp/stenosis
10. Abnormality of endochondral
longitudinal growth, tubular
bone shortening. Membrane
bone formation(skull) is
unaffected.
Treatment: under cord
compression, operative
correction.
11.
12.
13. Hypochondroplasia
• Mild form of
achondroplasia
• Stocky individuals
• Xray : pelvis flattening
thickening of long
bones
Treatment:
Limb lengthening
14.
15.
16.
17. Dyschondrodystosis
Disproportionate shortening of limbs.
Middle segments (forearm/leg) are
affected.
stature reduced but not as in
achondroplasia.
Xray: short forearm/leg
bow radius
madelung’s deformity of
wrist
Treatment:
operative
26. Dyschondroplasia /Enchondromatosis/Ollier’s disease
Rare but easily recognised
Defective transformation of
physeal cartilage into bone
unilateral short limb
Valgus/varus deformity
knee/ankle
Shortened ulna
Bowing radius
Crippled hand
(Fingers/toes have multiple
enchondromata characteristic
of disease)
43. DYSPLASIA EPIPHYSEALIS HEMIMELICA
(TREVOR’S DISEASE)
• Hemi dysplasia (only one limb) or (one half
medial/lateral)
• Mostly knee/ankle (mostly in boys)
• Bone swelling on one side of the joint.
• Treatment:
Excess bone removed.
44.
45.
46. CHONDRO DYSPLASIA PUNCTATA
(SLIPPED EPIPHYSES) or (CONRADI’S DISEASE)
• Multisystem disorder
• Facial abnormalities, vertebral anamolies,
• Asymmetrical epiphyseal changes, bone changes
• Severe cases (cardiac abnormalities, cataracts, mental
retardation)
• X-ray: punctate stippling of cartilagenous epiphyses & apophyses
upto 4 years, later disappear and follow epiphyseal irregularities and
dysplasia.
66. CRANIODIAPHYSEAL DYSPLASIA
• Rare , autosomal
recessive
• Cylindrical
expression of bone
• Prominent facial
contours in
childhood-
striking features -
LEONTIASIS
• Foraminal
occlusion may
cause deafness/
visual impairment.
67.
68.
69.
70. PYKNODYSOSTOSIS
• Short stature
• Frontal bossing
• Mandible underdevelopment
• Abnormal dentition
• X-Ray: skull enlarged with wide sutures/ open
fontanellae
• Facial/mandible hypoplastic --- triangled facies
71.
72.
73.
74. CANDLE BONES (MELORHEOSTASIS / LERI’S DISEASE)
• Rare, Non
Familial
• Discovered
accidently with
pain & stiffness
of limb
• X-ray : Patch of
sclerosis appears
as a burning
candle with wax
that congeals
86. PSEUDO ACHONDROPLASIA
• Rare
• Short limb Dwarf with ligament laxity
• c/f appear after 1 or 2 years
• Increased lordosis
• Bow leg
• Ovalshape vertebrae
100. Generalized Joint Laxity
• Joint hyper mobility
passive hyper-extensive of mcp joints beyond 90
degree.
passive stretching of thumb to touch front forearm
Hyperextension of elbows & knees
Ability to bend forward & touch flat on floor with
hands
101.
102.
103. MARFAN’S SYNDROME
Due to cross linkage defect in collagen and elastin
(genetic mapping is fibrillin gene on chromosome 15)
c/f :
Tall with long legs and arms
Chest pectus excavatum(flat/hollowing)
Digits long(spider fingers- arachnodactyly)
Spine spondylolisthesis, scoliosis
Flatfeet
Associated: high arched palate, hernia, lens dislocation, retinal
detachment, aortic aneurysm, mitral/aortic incompetence, joint laxity
114. LARSEN’S SYNDROME
• Recessive
• Severe forms in infancy
joint laxity, hip dislocation, knee instability,
radial head subluxation, equinovarus feet, ‘dish’ face
• Spine deformities in older children
115.
116.
117.
118. OSTEOGENESIS IMPERFECTA
(BRITTLE BONES)
Commonest genetic disorder of bone
Type 1 collagen (abnormal synthesis & structure)
Abnormalities of bones, teeth, sclerae and skin
c/f:
Osteopenia
Liability to fracture
Laxity of ligaments
Blue sclerae
Dentinogenesis imperfecta (crumbling teeth)
119.
120.
121.
122.
123.
124. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
(MYOSITIS OSSIFICANS PROGRESSIVA)
Characterised by ossificans of muscle connective
tissue (trunk mostly)
Starts with fever & inflammation in early childhood
Associated : shortening of big toe & thumb
125.
126.
127.
128.
129. NEUROFIBROMATOSIS
• Commonest gene disorder affecting skeleton
• Type 1 (NF 1) = VON Reckling hausen’s disease
• (abnormality is in the gene which codes for neurofibromin on
chromosome 17)
characteristic lesions are --- schwann cell tumors(neuro fibromata)
patches of skin pigmentation (café-au-lait
spots)
130.
131.
132.
133. Type 2 rare (gene defect which codes for
schwannomin on chromosome 22)
Scoliosis & soft tissues overgrowth
(elephantiasis)
Vertebral anamolies (scalloping of posterior
aspects of vertebral bodies, erosion of
pedicle,pencilling of ribs, i.v. foramin
enlargement)
138. Mucopolysaccharidases MPS
• Due lack in enzyme, there will be stoppage in
degradation pathway of proteoglycans (GAG)
• C/F :
all are autosomal recessive except Hunter’s syndrome (x linked)
Short stature with vertebral deformity
Facies coarseness
Hepatosplenomegaly
Mental retardation
Out of 10 different disorders, 3 rare conditions are:
Hurler’s Hunter’s Morquiobrailsford syndrome
147. Gaucher’s disease
• Each tissue a cell dies, cell membrane releases
glucocerbroside which binds with dglucose
molecule.
• This bond is split by an enzyme glucosylceramide
betaglucosidase. Lack of enzyme causes
accumulation/enlargement of marrow,spleen,liver
• Rare form- cns affected causes death with in year
• Subacute form- hepatosplenomegaly
(neuro/skeletal abnormalities in childhood)
• Chronic form- pancytopenia
157. Homocystinuria
• Deficiency of enzyme cystathionine beta synthetase
and accumulation of homocysteine and methionine.
• c/f:
patients tall and thin (as in marfan’s disease)
Osteoporosis, mental retardation, thromboembolic
disease common
Treatment: can be cured by pyridoxine (B6)
158.
159.
160.
161. Alkaptonuria
• Deficiency of enzyme homogentistic acid oxidase
and accumulation of homogentistic acid & executed
in urine.
• C/f:
• Alkaptonuria= urine turns dark
• Ochronosis=cartilage + other connective tissues are
grey stained
• Calcification of IVD.
162.
163.
164.
165.
166.
167. Congenital hyperuricaemia
(Lesch-Nyhan syndrome)
• Rare x-linked recessive
• Absence of enzyme hypoxanthine guanine phospho
ribosyl transferase (HGPRT)
• Results in excessive uric acid and gout
• c/f:
• Young boys mental retardation and prone to self
Mutilation (gnawing the ends of teeth)
Mild cases with severe gout.