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Term:
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (DOID:9004044)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
brachydactyly +     
synostosis +     
Aarskog syndrome +   
acheiropody  
acrocapitofemoral dysplasia  
acrocephalosyndactylia +   
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acrootoocular Syndrome 
acrorenal syndrome +  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Antley-Bixler syndrome +   
Ballard syndrome 
Banki Syndrome 
Berk-Tabatznik Syndrome 
Bork Stender Schmidt Syndrome 
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type C  
brachydactyly type D  
brachydactyly type E1  
brachydactyly type E2  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type A2, With Microcephaly 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
calcaneonavicular coalition 
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
Carnevale Hernandez Castillo Syndrome 
Catel Manzke Syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
Coronal Synostosis, Syndactyly and Jejunal Atresia 
Cranioacrofacial Syndrome 
craniosynostosis +   
Craniosynostosis, Adelaide Type 
Cryptomicrotia Brachydactyly Syndrome 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Der Kaloustian Mcintosh Silver Syndrome 
Digital Arthropathy-Brachydactyly, Familial  
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken Skeletal Dysplasia  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons-Guilbert Syndrome  
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GOMBO Syndrome 
Goodman Camptodactyly 
Gordon Syndrome  
Grange Syndrome  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Heart-Hand Syndrome, Spanish Type 
Hecht Scott Syndrome 
Hirschsprung Disease Type d Brachydactyly 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Humeroradial Multiple Synostosis Syndrome 
humeroradial synostosis 
Humeroradial Synostosis with Craniofacial Anomalies 
hydrolethalus syndrome +   
hypertension and brachydactyly syndrome  
Ischiopatellar Dysplasia  
Johnson Munson Syndrome 
Jorgenson Lenz Syndrome 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kumar Levick Syndrome 
Laurin-Sandrow syndrome  
Leri Pleonosteosis 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Mesomelia-Synostoses Syndrome 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
multiple synostoses syndrome +   
Multiple Synostoses Syndrome 1  
Neurofaciodigitorenal Syndrome 
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pfeiffer Tietze Welte Syndrome 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Prata Libéral Gonçalves Syndrome 
Progeroid Facial Appearance with Hand Anomalies 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Pseudotrisomy 13 Syndrome 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
radioulnar synostosis  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +   
Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Second Metatarsal-Metacarpal Syndrome 
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Sillence Syndrome 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
spondylocarpotarsal synostosis syndrome  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stoll Alembik Dott Syndrome 
Sugarman brachydactyly +  
Symphalangism of Toes 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly +   
Synostosis of Talus and Calcaneus with Short Stature 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. LBNBG, or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene on chromosome 5q31. (OMIM)
Synpolydactyly 2  
Tabatznik Syndrome 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
temtamy preaxial brachydactyly syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tsukahara Syndrome 
Tukel Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: Brachydactyly with Joint Dysplasia ;   LBNBG ;   Liebenberg Syndrome
Primary IDs: MESH:C566090 ;   RDO:0014551
Alternate IDs: OMIM:186550

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.