CONGENITAL ANOMALIES
DEVELOPMENTAL DISORDERS
AND DYSPLASIAS
Melih Güven, M.D
Assoc. Prof.
Yeditepe University Hospital
Department of Orthopaedics and Traumatology
Istanbul
Congenital Anomalies
Physical variations those
disorganize physical appearance
and function
Can be
in a single part of extremity
in one extremity
multiple
combined with severeal anomalies
Congenital Anomalies
Etiology
Genetic
Single gene pathology
Multiple genes pathologies
Chromosomal anomalies
Non-genetic
Teratogenic
İdiopathic
Congenital Anomalies
Classification
Interruption of development
(Facomelia, Aphalangea)
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
4
Congenital Anomalies
Classification
Interruption of development
Separation deficit (Syndactyly)
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
5
Congenital Anomalies
Classification
Interruption of development
Separation deficit
Duplication (Polydactyly)
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
6
Congenital Anomalies
Classification
Interruption of development
Separation deficit
Duplication
Overgrowth (Macrodactyly)
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
7
Congenital Anomalies
Classification
Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia (Phalangeal hypoplasia)
Constructive band syndrome
Generalized skeletal anomalies
8
Congenital Anomalies
Classification
Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
9
Congenital Anomalies
Classification
Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies
(Arthrogryposis multiplex
congenita)
10
Congenital Anomalies
Treatment
Controversies about timing of treatment
Before the recognition of upper extremity
Before walking for the lower extremity
Treatment modalities
Reconstructions (esp. in upper extr.)
Deformity correction and extremity lengthening
Amputations
Torticollis
Sternocleidomastoid (SCM) muscle
spasm or contracture
Congenital or acquired
Association with DDH
Before 1st year of life –
conservative
After 1st year – surgical release
12
Radial Club Hand
Partial or total absence of
radius
Associated congenital cardiac
pathologies, abdominal
pathologies and haematologic
diseases
Surgical reconstruction after 6
months of age
13
Madelung Deformity
Unknown etiology (may be
developmental)
Undergrowth of distal radial
epiphysis
Ulnar deviation of the wrist
Corrective osteotomies and
reconstruction
14
Syndactyly
Partial – Total
Simple – Complex
Surgery for hands
Observation for foot
15
Polydactyly
Preaxial, postaxial, central
Surgery for both hands and
feet
16
Macrodactyly
Can be associated with vascular
anomalies or neurofibromatosis
Severe functional and cosmetic
problems
Reconstruction or amputation
17
Cleft Hand – Cleft Foot
Absence of central ray of
hand or foot
Reconstructive surgeries
18
Trigger Finger
Developmental
Frequently in thumb
Surgical release of A1 pulley
19
Lower extremity long bone deficiencies
Proximal focal femoral deficiency
Tibial hemimelia
Fibular hemimelia
20
Clubfoot (Pes Equinovarus)
Most common congenital foot
deformity
Early diagnosis and treatment
are very important
Conservative treatment – GOLD
standard
Corrective manipulation and serial
casting
21
Vertical Talus
Rigid pes planovalgus
Can be associated with
syndromes
Surgical correction in early
ages is necessary
22
Postural Foot Deformities
Metatarsus adductus
Calcaneovalgus
23
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
24
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
25
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
26
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
27
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
28
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
29
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
30
Others…
Constructive band syndrome
Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis
31
You should remember …
Classification of congenital anomalies
Definition of most common deformities
Torticollis
Syndactyly, polidactyly, macrodactyly
Cleft Hand
Clubfoot (PEV)
Trigger finger
32
Thank you …