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Limb Deformities, Congenital

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Definition: Congenital structural deformities of the upper and lower extremities collectively or unspecified.  general or unspecified; LOWER EXTREMITY DEFORMITIES, CONGENITAL and UPPER EXTREMITY DEFORMITIES, CONGENITAL are available as well as /abnorm with specifics treed under UPPER EXTREMITIES and LOWER EXTREMITIES; DF: LIMB DEFORMITIES CONGEN   
Examples Arachnodactyly; Brachydactyly; Ectromelia; Lower Extremity Deformities, Congenital; Polydactyly; Proteus Syndrome; Syndactyly; Thanatophoric Dysplasia; Upper Extremity Deformities, Congenital 		Other names Limb Deformity, Congenital; Deformity, Congenital Limb; Deformities, Congenital Limb; Congenital Limb Deformity; Congenital Limb Deformities
 
SubstanceCAS Registry & nameCategoriesSource
Powell Chandra Saal syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius/abnormalities Vertebrates/abnormalities.
Adams Oliver syndrome  0   *Ectodermal Dysplasia *Scalp Dermatoses/congenital *Limb Deformities, Congenital.
Kuster syndrome  0   *Cleft Lip *Cleft Palate *Limb Deformities, Congenital Lip/abnormalities.
Palant cleft palate syndrome  0   *Abnormalities, Multiple *Cleft Palate *Intellectual Disability *Limb Deformities, Congenital *Facies.
Fryns syndrome  0   *Facies *Hernia, Diaphragmatic/congenital *Limb Deformities, Congenital.
Propping Zerres syndrome  0   *Anodontia *Ectodermal Dysplasia *Lacrimal Duct Obstruction *Nails, Malformed *Pigmentation Disorders *Limb Deformities, Congenital Breast/abnormalities.
Camptobrachydactyly  0   *Limb Deformities, Congenital *Brachydactyly.
Calabro syndrome  0   *Constriction, Pathologic *Craniosynostoses *Klippel-Feil Syndrome *Mouth Abnormalities *Urogenital Abnormalities *Limb Deformities, Congenital.
Fetal akinesia syndrome, X-linked  0   *Fetal Growth Retardation *Pterygium *Limb Deformities, Congenital *Genetic Diseases, X-Linked.
Chondrodysplasia, acromesomelic, with genital anomalies  0   *Ovarian Diseases *Limb Deformities, Congenital.
Bagatelle Cassidy syndrome  0   *Hearing Loss, Bilateral *Hypertelorism *Limb Deformities, Congenital *Macrocephaly Developmental Disabilities.
Renal dysplasia - limb defects syndrome  0   *Kidney Diseases *Limb Deformities, Congenital Humerus/abnormalities Radius/abnormalities.
Oculodigitoesophagoduodenal syndrome  0   *Duodenal Obstruction *Esophageal Atresia *Microcephaly *Limb Deformities, Congenital Eyelids/abnormalities.
Lynch Lee Murday syndrome  0   Spine *Cryptorchidism *Deafness *Intellectual Disability *Limb Deformities, Congenital.
Genee-Wiedemann syndrome  0   *Abnormalities, Multiple *Mandibulofacial Dysostosis *Micrognathism *Limb Deformities, Congenital.
Grubben de Cock Borghgraef syndrome  0   *Developmental Disabilities *Eczema/congenital *Muscle Hypotonia/congenital *Tooth Abnormalities *Limb Deformities, Congenital.
Krause-Kivlin syndrome  0   *Growth Disorders *Limb Deformities, Congenital Cornea/abnormalities.
Stern Lubinsky Durrie syndrome  0   *Corneal Diseases *Growth Disorders *Keratoderma, Palmoplantar *Limb Deformities, Congenital Infant, Premature.
Mental retardation spasticity ectrodactyly  0   *Intellectual Disability *Spastic Paraplegia, Hereditary *Limb Deformities, Congenital.
Metaphyseal anadysplasia  0   *Osteochondrodysplasias *Limb Deformities, Congenital.
Mesomelia-synostoses syndrome  0   *Abnormalities, Multiple *Synostosis *Limb Deformities, Congenital.
Splenogonadal fusion limb defects micrognatia  0   *Limb Deformities, Congenital *Craniofacial Abnormalities Gonads/abnormalities Spleen/abnormalities.
Ruzicka Goerz Anton syndrome  0   *Cervical Rib Syndrome *Hearing Loss, Central *Ichthyosis *Intellectual Disability *Thyroid Neoplasms *Limb Deformities, Congenital.
Brachyolmia, recessive Hobaek type  0   *Osteochondrodysplasias *Limb Deformities, Congenital.
Kaufman oculocerebrofacial syndrome  0   *Eye Abnormalities *Intellectual Disability *Microcephaly *Limb Deformities, Congenital *Facies.
Le Marec Bracq Picaud syndrome  0   *Abnormalities, Multiple *Limb Deformities, Congenital. Ann Pediatr (Paris). 1983;30(9):721-4
Kaplan Plauchu Fitch syndrome  0   *Craniofacial Dysostosis *Limb Deformities, Congenital.
Wright Dyck syndrome  0   *Dementia *Deafness *Limb Deformities, Congenital Ankle/abnormalities.
Yunis Varon syndrome  0   *Cleidocranial Dysplasia *Ectodermal Dysplasia *Micrognathism *Limb Deformities, Congenital.
Weyers acrofacial dysostosis  0   *Abnormalities, Multiple *Tooth Abnormalities *Limb Deformities, Congenital.
Penttinen-Aula syndrome  0   *Progeria *Limb Deformities, Congenital *Acro-Osteolysis.
VACTERL hydrocephaly  0   *Heart Defects, Congenital *Hydrocephalus *Limb Deformities, Congenital Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
VACTERL association with hydrocephaly, X-linked  0   *Hydrocephalus *Heart Defects, Congenital *Limb Deformities, Congenital *Genetic Diseases, X-Linked Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
Thoraco limb dysplasia Rivera type  0   *Dwarfism *Limb Deformities, Congenital Ribs/abnormalities.
VACTERL association  0   *Heart Defects, Congenital *Limb Deformities, Congenital Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
Split-hand/foot malformation with long bone deficiency  0   *Limb Deformities, Congenital Tibia/abnormalities.
Nephrosis deafness urinary tract digital malformation  0   *Deafness *Nephrosis *Urogenital Abnormalities *Limb Deformities, Congenital.
Viljoen Kallis Voges syndrome  0   *Growth Disorders *Intellectual Disability *Limb Deformities, Congenital *Craniofacial Abnormalities.
Pointer syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Limb Deformities, Congenital *Craniofacial Abnormalities Eating Disorders.
Ichthyosis tapered fingers midline groove up  0   *Ichthyosis *Limb Deformities, Congenital Face/abnormalities.
Brachymorphism-onychodysplasia-dysphalangism syndrome  0   *Nails, Malformed *Limb Deformities, Congenital.
Curry Hall syndrome  0   *Nails, Malformed *Limb Deformities, Congenital.
Nievergelt syndrome  0   *Dwarfism *Osteochondrodysplasias *Limb Deformities, Congenital Leg/abnormalities.
Cartwright Nelson Fryns syndrome  0   *Fetal Growth Retardation *Intellectual Disability *Nails, Malformed *Limb Deformities, Congenital.
Limb-mammary syndrome  0   *Limb Deformities, Congenital Breast/abnormalities.
Robinow syndrome, autosomal recessive  0   *Limb Deformities, Congenital *Maxillofacial Abnormalities Spine/abnormalities.
Heart defects limb shortening  0   *Abnormalities, Multiple *Heart Defects, Congenital *Limb Deformities, Congenital.
Split hand foot deformity  0   *Limb Deformities, Congenital *Genetic Diseases, X-Linked.
Acrorenal syndrome recessive  0   *Digestive System Abnormalities *Limb Deformities, Congenital.
Acropectoral syndrome  0   *Limb Deformities, Congenital.
Acromicric dysplasia  0   *Bone Diseases, Developmental *Limb Deformities, Congenital.
Acromegaloid facial appearance syndrome  0   *Acromegaly *Hypertrichosis *Limb Deformities, Congenital.
Freire-Maia odontotrichomelic syndrome  0   *Ectodermal Dysplasia *Limb Deformities, Congenital.
Hanhart syndrome  0   *Abnormalities, Multiple *Limb Deformities, Congenital *Craniofacial Abnormalities.
Hand and foot deformity with flat facies  0   *Limb Deformities, Congenital Face/abnormalities.
Abruzzo Erickson syndrome  0   *Hearing Loss, Conductive *Limb Deformities, Congenital *Maxillofacial Abnormalities *Genetic Diseases, X-Linked.
Aase Smith syndrome  0   *Abnormalities, Multiple *Cleft Palate *Contracture *Hydrocephalus *Limb Deformities, Congenital.
Reardon Hall Slaney syndrome  0   *Cleft Palate *Limb Deformities, Congenital *Craniofacial Abnormalities.
Rapadilino syndrome  0   *Dwarfism *Heart Septal Defects, Atrial *Rothmund-Thomson Syndrome *Limb Deformities, Congenital Anal Canal/abnormalities Patella/abnormalities Radius/abnormalities.

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