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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
Substance
CAS Registry & name
Categories
Source
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.