Musculoskeletal complaints in patient with congenital disorders of the hand and arm.

• Patients and healthy subjects aged 18 years or older.

• Sufficient knowledge of the Dutch language to fill out the questionnaire

• A large congenital anomaly of the upper extremity classified by the “OMT CLASSIFICATION OF CONGENITAL HAND AND UPPER LIMB ANOMALIES” as follows:

I. MALFORMATIONS

A. Abnormal axis formation/differentiation—entire upper limb

1. Proximal-distal axis

i…Brachymelia with brachydactyly

ii..Symbrachydactyly

a) Poland syndrome

iv. Intersegmental deficiency

a) Proximal (humeral – rhizomelic)

b) Distal (forearm – mesomelic)

c) Total (Phocomelia)

v. Whole limb duplication/triplication

2. Radial-ulnar (anterior-posterior) axis

i…..Radial longitudinal deficiency - Thumb hypoplasia (with proximal limb involvement)

ii….Ulnar longitudinal deficiency

iii...Ulnar dimelia

iv...Radioulnar synostosis

v….Congenital dislocation of the radial head

vi…Humeroradial synostosis - Elbow ankyloses

vii..Madelung deformity

3. Dorsal-ventral axis

i…..Ventral dimelia

a) Furhmann/Al-Awadi/Raas-Rothschild syndromes

b) Nail Patella syndrome

ii….Absent/hypoplastic extensor/flexor muscles

4. Unspecified axis

i…..Shoulder

a) Undescended (Sprengel)

b) Abnormal shoulder muscles

c) Not otherwise specified

ii…..Arthrogryposis

B. Abnormal axis formation/differentiation— hand plate

1. Proximal-distal axis

i…..Brachydactyly (no forearm/arm involvement)

ii….Symbrachydactyly (no forearm/arm involvement)

2. Radial-ulnar (anterior-posterior) axis

i…..Radial deficiency (thumb - no forearm/arm involvement)

ii....Ulnar deficiency (no forearm/arm involvement)

v….Ulnar dimelia (mirror hand – no forearm/arm involvement)

3. Dorsal-ventral axis

i…..Dorsal dimelia (palmar nail)

ii….Ventral (palmar) dimelia (including hypoplastic/aplastic nail)

4. Unspecified axis

i…..Soft tissue

d) Distal arthrogryposis

iii. Complex

a) Complex syndactyly

b) Synpolydactyly— central

c) Cleft hand

d) Apert hand

e) Not otherwise specified

II. DEFORMATIONS

C. Not otherwise specified

III. DYSPLASIAS

A. Hypertrophy

1. Whole limb

i…..Hemihypertrophy

ii….Aberrant flexor/extensor/intrinsic muscle

2. Partial limb

i…..Macrodactyly

ii….Aberrant intrinsic muscles of hand

• Comorbidity severely affecting upper extremity function

• Amputation of the upper extremity

• Transverse reduction defects of the upper extremity classified by the “OMT CLASSIFICATION OF CONGENITAL HAND AND UPPER LIMB ANOMALIES” as follows:

I. MALFORMATIONS

A. Abnormal axis formation/differentiation—entire upper limb

1. Proximal-distal axis

b) Whole limb excluding Poland syndrome

iii. Transverse deficiency

a) Amelia

b) Clavicular/scapular

c) Humeral (above elbow)

d) Forearm (below elbow)

e) Wrist (carpals absent/at level of proximal carpals/at level of distal carpals ) (with forearm/arm involvement)

f) Metacarpal (with forearm/arm involvement)

g) Phalangeal (proximal/middle/distal) (with forearm/arm involvement)

B. Abnormal axis formation/differentiation— hand plate

1. Proximal-distal axis

iii…Transverse deficiency (no forearm/arm involvement)

a) Wrist (carpals absent/at level of proximal carpals/at level of distal carpals)

b) Metacarpal

c) Phalangeal (proximal/middle/distal)

II. DEFORMATIONS

A. Constriction ring sequence

• ‘Minor’ congenital anomalies classified by the “OMT CLASSIFICATION OF CONGENITAL HAND AND UPPER LIMB ANOMALIES” as follows:

B. Abnormal axis formation/differentiation— hand plate

2. Radial-ulnar (anterior-posterior) axis

iii…Radial polydactyly

iv…Triphalangeal thumb

vi…Ulnar polydactyly

4. Unspecified axis

i…..Soft tissue

a) Syndactyly

b) Camptodactyly

c) Thumb in palm deformity

ii. Skeletal deficiency

a) Clinodactyly

b) Kirner’s deformity

c) Synostosis/symphalangism (carpal/metacarpal/phalangeal)

II. DEFORMATIONS

B. Trigger digits