Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
split hand-foot malformation (DOID:0090020)
Annotations: Rat: (13) Mouse: (13) Human: (15) Chinchilla: (12) Bonobo: (12) Dog: (11) Squirrel: (12) Pig: (12)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Abruzzo-Erickson syndrome  
Acro-Osteolysis +   
Acromegaloid Facial Appearance Syndrome 
Acromesomelic Dysplasia, Demirhan Type  
acromicric dysplasia +   
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
Arachnodactyly +   
Atelosteogenesis Type 3  
Au-Kline Syndrome  
autosomal recessive Robinow syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baby Rattle Pelvis Dysplasia 
Bagatelle Cassidy syndrome 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome  
Blount's disease 
brachydactyly +   
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Brittle Bone Disorder 
Calabro Syndrome 
Camptobrachydactyly 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cartwright Nelson Fryns Syndrome 
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Cervical Vertebral Dysplasia 
CHILD syndrome  
CHITAYAT SYNDROME  
CHOPS Syndrome  
clubfoot +   
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Upper Extremity Deformities +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Deafness Conductive Ptosis Skeletal Anomalies 
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Disproportionate Tall Stature  
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Ectrodactyly-Polydactyly 
Ectromelia +   
Elsahy-Waters syndrome  
EVEN-PLUS SYNDROME  
Feingold syndrome +   
Fetal Akinesia Syndrome, X-Linked 
fetal encasement syndrome  
Fountain Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Fryns Hofkens Fabry Syndrome  
Fryns Syndrome  
Fuhrmann syndrome  
Funnel Chest +   
Gigantism +   
Gorham's disease +  
Gracile Bone Dysplasia  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hand and Foot Deformity with Flat Facies 
Hanhart Syndrome 
Heart Defects Limb Shortening 
hypochondroplasia  
Hypoglossia-Hypodactylia 
Ichthyosis Tapered Fingers Midline Groove Up 
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Kantaputra Gorlin Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kuster Syndrome 
Kyphomelic Dysplasia 
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Le Marec Bracq Picaud Syndrome 
Leg Length Inequality 
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
Lethal Faciocardiomelic Dysplasia 
Limb-Mammary Syndrome  
Lissencephaly Type III and Bone Dysplasia 
Lower Extremity Deformities, Congenital +   
Lynch Lee Murday syndrome 
Macroepiphyseal Dysplasia, McAlister Coe Type 
Malformation of Arms 
Marfan syndrome +   
Marshall-Smith syndrome  
Megalodactyly  
Membranous Cranial Ossification, Delayed 
Mental Retardation Spasticity Ectrodactyly 
Mesomelia-Synostoses Syndrome 
Mesomelic Dysplasia, Camera Type 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Anadysplasia +   
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Miura type epiphyseal chondrodysplasia  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, X-Linked 
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
nevoid basal cell carcinoma syndrome +   
Nievergelt Syndrome 
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Palant Cleft Palate Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Penttinen-Aula Syndrome  
Peters plus syndrome  
Platybasia +  
Pointer Syndrome 
polydactyly +   
postaxial acrofacial dysostosis  
Powell Chandra Saal Syndrome 
Prenatal Bowing 
Proteus syndrome +   
Radial Ray Deficiency, X-Linked 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radius Absent Anogenital Anomalies 
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Renal Dysplasia - Limb Defects Syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Ruzicka Goerz Anton syndrome 
Santos Syndrome 
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature-Obesity Syndrome 
Shwachman-Diamond Syndrome 2  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stoll Levy Francfort Syndrome 
Stratton-Parker Syndrome 
syndactyly +   
syndromic microphthalmia 6  
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
thanatophoric dysplasia +   
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
VACTERL association +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Weill-Marchesani Syndrome 3  
Weismann Netter Syndrome 
Weyers acrofacial dysostosis  
Wiedemann Oldigs Oppermann Syndrome 
Wright Dyck Syndrome 
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: lobster-claw deformity ;   split hand foot deformity ;   split hand/foot malformation ;   split-hand deformity
Related Synonyms: ECD ;   ectrodactyly
Primary IDs: MESH:C535777 ;   MESH:C574275
Xrefs: GARD:6319 ;   OMIM:PS183600 ;   ORDO:2440
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12668597 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7802032 "DO"

paths to the root

NHLBI Logo

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