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Term:
Multiple Epiphyseal Dysplasia with Robin Phenotype (DOID:9001369)
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Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Abruzzo Erickson Syndrome  
Acromegaloid Facial Appearance Syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
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 
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Arachnodactyly +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Atelosteogenesis Type 3  
Aughton Syndrome 
autosomal recessive Robinow syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Bird Headed Dwarfism Montreal Type 
blepharocheilodontic syndrome +   
brachydactyly +   
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Calabro Syndrome 
Camptobrachydactyly 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cartwright Nelson Fryns Syndrome 
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebrocostomandibular syndrome  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
CHILD Syndrome  
CHITAYAT SYNDROME  
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
cocoon syndrome  
Coffin-Siris syndrome +   
Coloboma of Macula and Skeletal Anomalies 
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Symmetric Circumferential Skin Creases +   
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Craniomicromelic Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Crumpled Helices and Small Mouth 
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Ectrodactyly-Polydactyly 
Ectromelia +   
EEC syndrome +   
Emanuel Syndrome 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiomelic Dysplasia, Lethal 
Faciocardiorenal Syndrome 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Fetal Akinesia Syndrome, X-Linked 
Freire-Maia Odontotrichomelic Syndrome 
Frontonasal Dysplasia 3  
Fryns Syndrome 
Genito Palato Cardiac Syndrome 
Gordon Syndrome  
Grubben de Cock Borghgraef Syndrome 
Halal Syndrome 
Hand and Foot Deformity with Flat Facies 
Hanhart Syndrome 
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
Heart Defects Limb Shortening 
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holzgreve-Wagner-Rehder syndrome 
hypertelorism, microtia, facial clefting syndrome 
hypochondroplasia  
Hypodontia Oligodontia with Orofacial Cleft 
Hypoglossia-Hypodactylia 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Ichthyosis Tapered Fingers Midline Groove Up 
Iida Kannari Syndrome 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
isolated cleft palate  
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kaplan Plauchu Fitch Syndrome 
Kapur Toriello Syndrome 
Kaufman Oculocerebrofacial Syndrome  
Kniest dysplasia  
Kuster Syndrome 
Ladda Zonana Ramer syndrome 
Larsen syndrome  
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Le Marec Bracq Picaud Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Limb-Mammary Syndrome  
Lower Extremity Deformities, Congenital +   
Lowry Maclean syndrome 
Lynch Lee Murday syndrome 
Macrosomia with Lethal Microphthalmia 
Malformation of Arms 
Martinez Monasterio Pinheiro Syndrome 
McPherson Clemens Syndrome 
Megalodactyly  
Meier-Gorlin syndrome +   
Mental Retardation Spasticity Ectrodactyly 
Mesomelia-Synostoses Syndrome 
Metaphyseal Anadysplasia +   
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Syndromic 6  
Microtia, Hearing Impairment, and Cleft Palate  
Milner Khallouf Gibson Syndrome 
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 7  
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
Multiple Epiphyseal Dysplasia with Miniepiphyses 
Multiple Epiphyseal Dysplasia with Myopathy 
multiple epiphyseal dysplasia with myopia and deafness  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia 
Multiple Pterygium Syndrome, X-Linked 
Native American myopathy  
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
Nievergelt Syndrome 
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Palant Cleft Palate Syndrome 
PARC Syndrome 
Penttinen-Aula Syndrome  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Peters plus syndrome  
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
Pointer Syndrome 
polydactyly +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Powell Chandra Saal Syndrome 
Proteus syndrome +   
Radial Ray Deficiency, X-Linked 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raine Syndrome  
rapadilino syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Renal Dysplasia - Limb Defects Syndrome 
Robinow syndrome +   
Rosselli-Gulienetti Syndrome 
Ruzicka Goerz Anton syndrome 
Sakoda Complex 
Samson Viljoen Syndrome 
Say Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schweitzer Kemink Graham Syndrome 
Selective Tooth Agenesis with Orofacial Cleft 
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature-Obesity Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
split hand-foot malformation 3  
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
syndactyly +   
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
thanatophoric dysplasia +   
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Ulnar Hypoplasia with Mental Retardation 
Upper Extremity Deformities, Congenital +   
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL association  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Viljoen Kallis Voges Syndrome 
Weill-Marchesani Syndrome 3  
Weyers Acrofacial Dysostosis  
Wright Dyck Syndrome 
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 

Synonyms
Primary IDs: MESH:C563291
Alternate IDs: RDO:0012596

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