OMT CLASSIFICATION OF CONGENITAL HAND AND UPPER LIMB ANOMALIES Updated 28th January, 2015
I. MALFORMATIONS a) Wrist (carpals absent/at level of proximal A. Abnormal axis formation/differentiation—entire upper carpals/at level of distal carpals) limb b) Metacarpal 1. Proximal-distal axis c) Phalangeal (proximal/middle/distal) i. Brachymelia with brachydactyly ii. Symbrachydactyly 2. Radial-ulnar (anterior-posterior) axis a) Poland syndrome i. Radial deficiency (thumb - no forearm/arm b) Whole limb excluding Poland syndrome involvement) iii. Transverse deficiency ii. Ulnar deficiency (no forearm/arm involvement) a) Amelia iii. Radial polydactyly b) Clavicular/scapular iv. Triphalangeal thumb c) Humeral (above elbow) v. Ulnar dimelia (mirror hand – no forearm/arm d) Forearm (below elbow) involvement) e) Wrist (carpals absent/at level of proximal vi. Ulnar polydactyly carpals/at level of distal carpals ) (with forearm/arm involvement) 3. Dorsal-ventral axis f) Metacarpal (with forearm/arm involvement) i. Dorsal dimelia (palmar nail) g) Phalangeal (proximal/middle/distal) (with ii. Ventral (palmar) dimelia (including forearm/arm involvement) hypoplastic/aplastic nail) iv. Intersegmental deficiency a) Proximal (humeral – rhizomelic) 4. Unspecified axis b) Distal (forearm – mesomelic) i. Soft tissue c) Total (Phocomelia) a) Syndactyly v. Whole limb duplication/triplication b) Camptodactyly c) Thumb in palm deformity 2. Radial-ulnar (anterior-posterior) axis d) Distal arthrogryposis i. Radial longitudinal deficiency - Thumb hypoplasia ii. Skeletal deficiency (with proximal limb involvement) a) Clinodactyly ii. Ulnar longitudinal deficiency b) Kirner’s deformity iii. Ulnar dimelia c) Synostosis/symphalangism iv. Radioulnar synostosis (carpal/metacarpal/phalangeal) v. Congenital dislocation of the radial head iii. Complex vi. Humeroradial synostosis - Elbow ankyloses a) Complex syndactyly vii. Madelung deformity b) Synpolydactyly— central c) Cleft hand 3. Dorsal-ventral axis d) Apert hand i. Ventral dimelia e) Not otherwise specified a) Furhmann/Al-Awadi/Raas-Rothschild syndromes b) Nail Patella syndrome II. DEFORMATIONS ii. Absent/hypoplastic extensor/flexor muscles A. Constriction ring sequence B. Trigger digits 4. Unspecified axis C. Not otherwise specified i. Shoulder a) Undescended (Sprengel) III. DYSPLASIAS b) Abnormal shoulder muscles A. Hypertrophy c) Not otherwise specified 1. Whole limb ii. Arthrogryposis i. Hemihypertrophy ii. Aberrant flexor/extensor/intrinsic muscle B. Abnormal axis formation/differentiation— hand plate 1. Proximal-distal axis 2. Partial limb i. Brachydactyly (no forearm/arm involvement) i. Macrodactyly ii. Symbrachydactyly (no forearm/arm involvement) ii. Aberrant intrinsic muscles of hand iii. Transverse deficiency (no forearm/arm involvement)
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B. Tumorous conditions 28. Oculodentodigital dysplasia 1. Vascular 29. Orofacialdigital i. Hemangioma 30. Otopalataldigital ii. Malformation 31. Pallister-Hall iii. Others
32. Pfeiffer 2. Neurological 33. Pierre Robin i. Neurofibromatosis 34. Poland ii. Others 35. Proteus 36. Roberts-SC Phocomelia 3. Connective tissue 37. Rothmund-Thomson i. Juvenile aponeurotic fibroma 38. Rubinstein-Taybi ii. Infantile digital fibroma iii. Others 39. Saethre-Chotzen 40. Thrombocytopenia Absent Radius 4. Skeletal 41. Townes-Brock i. Osteochondromatosis 42. Trichorhinophalangeal (types 1-3) ii. Enchondromatosis 43. Ulnar-Mammary iii. Fibrous dysplasia 44. VACTERLS association iv. Epiphyseal abnormalities
v. Others B. Others IV. SYNDROMES* A. Specified *The specified syndromes are those considered most relevant; 1. Acrofacial Dysostosis 1 (Nager type) however, many other syndromes have a limb component 2. Apert categorized under “B. Others”. 3. Al-Awadi/Raas-Rothschild/Schinzel phocomelia 4. Baller-Gerold 5. Bardet-Biedl Carpenter 6. Beales 7. Catel-Manzke 8. Constriction band (Amniotic Band Sequence) 9. Cornelia de Lange (types 1-5) 10. Crouzon 11. Down 12. Ectrodactyly-Ectodermal Dysplasia-Clefting 13. Fanconi Pancytopenia 14. Fuhrmann 15. Goltz 16. Gorlin 17. Greig Cephalopolysyndactyly 18. Hajdu-Cheney 19. Hemifacial Microsomia (Goldenhar syndrome) 20. Holt-Oram 21. Lacrimoauriculodentodigital (Levy-Hollister) 22. Larsen 23. Leri-Weill Dyschondrosteosis 24. Moebius sequence 25. Multiple Synostoses 26. Nail-Patella 27. Noonan
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