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Term:
acrofacial dysostosis Rodriguez type (DOID:0060383)
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Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acheiropody  
acrofacial dysostosis Cincinnati type  
acrofacial dysostosis Rodriguez type 
An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)
acrofacial dysostosis, Catania type 
acrofacial dysostosis, Patagonia type 
acrofrontofacionasal dysostosis 
acromelic frontonasal dysostosis  
Acrootoocular Syndrome 
acrorenal syndrome +  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Banki Syndrome 
brachydactyly type E1  
brachydactyly type E2  
Branchial Arch Syndrome X-Linked 
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type +  
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 
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
Catel Manzke Syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Diamond Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Digitotalar Dysmorphism 
distal arthrogryposis type 3  
Distal Symphalangism +   
DOORS syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
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 syndrome  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Fara Chlupackova Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goldenhar syndrome +   
Goodman Camptodactyly 
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  
Hecht Scott Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
IVIC syndrome  
Johnson Munson Syndrome 
Keutel Syndrome  
Khalifa Graham Syndrome 
Laurin-Sandrow syndrome  
Leri Pleonosteosis 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
mandibulofacial dysostosis, Guion-Almeida type  
Metaphyseal Acroscyphodysplasia 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Nager acrofacial dysostosis  
Neurofaciodigitorenal Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Opitz Reynolds Fitzgerald syndrome 
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
otopalatodigital syndrome spectrum disorder +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Patterson Stevenson Syndrome  
Pfeiffer Tietze Welte Syndrome 
postaxial acrofacial dysostosis  
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
Pseudotrisomy 13 Syndrome  
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Second Metatarsal-Metacarpal Syndrome 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 8  
Synpolydactyly 2  
Tabatznik Syndrome 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Tollner Horst Manzke Syndrome 
Treacher Collins syndrome +   
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tukel Syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Acrofacial Dysostosis Syndrome Of Rodriguez ;   Rodriguez lethal acrofacial dysostosis syndrome
Primary IDs: MESH:C538183
Alternate IDs: OMIM:201170 ;   RDO:0004126
Xrefs: GARD:496 ;   ORDO:1788
Definition Sources: https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type "DO"

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