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Term:
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES (DOID:9009129)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
22q11 Deletion Syndrome +   
3-M syndrome +   
3MC syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
achondroplasia +   
Acro-Osteolysis +   
acromesomelic dysplasia +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
Arthrogryposis Multiplex Congenita Whistling Face 
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baby Rattle Pelvis Dysplasia 
Baker Vinters Syndrome 
Bangstad Syndrome 
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome  
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blount's disease 
Bone Dysplasia, Lethal, Holmgren Type 
Boomerang dysplasia  
Brachioskeletogenital Syndrome  
Brachydactylous Dwarfism Mseleni Type 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brittle Bone Disorder 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cantu Sanchez-Corona Fragoso Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Vertebral Dysplasia 
CHITAYAT SYNDROME  
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
clubfoot +   
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
congenital hypothyroidism +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Crouzon syndrome +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Conductive Ptosis Skeletal Anomalies 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
diastrophic dysplasia +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal arthrogryposis type 6 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Doughnut Lesions of Skull, Familial  
Dwarfism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Dyssegmental Dysplasia with Glaucoma 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
FG Syndrome 5 
fibrochondrogenesis +   
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
geroderma osteodysplasticum  
Gigantism +   
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorham's disease +  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hennekam syndrome +   
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
hypochondroplasia  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
intellectual developmental disorder with short stature and behavioral abnormalities  
isolated growth hormone deficiency +   
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome 
Kantaputra Gorlin Syndrome 
Kapur Toriello Syndrome 
KBG syndrome  
Kenny-Caffey Syndrome, Type 2  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
Leg Length Inequality 
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Lessel-Kubisch Syndrome  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly Type III and Bone Dysplasia 
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Macrocephaly +   
Macroepiphyseal Dysplasia, McAlister Coe Type 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marfan syndrome +   
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Membranous Cranial Ossification, Delayed 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Camera Type 
Mesomelic Limb Shortening and Bowing 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miura type epiphyseal chondrodysplasia  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
mulibrey nanism  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nievergelt Syndrome 
Noonan syndrome +   
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Pallister W Syndrome 
parastremmatic dwarfism  
Pashayan Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Prenatal Bowing 
Prieto syndrome 
Proportionate Dwarfism, with Hip Dislocation 
Proteus syndrome +   
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radius Absent Anogenital Anomalies 
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Ruvalcaba Syndrome 
Santos Syndrome 
Say Meyer Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Sener Syndrome 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
A syndrome featuring short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. (OMIM)
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature-Obesity Syndrome 
Shwachman-Diamond Syndrome 2  
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simosa Cranio Facial Syndrome 
Singh Chhaparwal Dhanda Syndrome 
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 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondyloocular Syndrome, Autosomal Recessive  
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
Synovial Chondromatosis, Familial, with Dwarfism 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Ter Haar Syndrome  
Tetrasomy X 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
Trichoodontoonychial Dysplasia 
Tryptophanuria with Dwarfism 
Ulnar Hypoplasia with Mental Retardation 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
Weill-Marchesani syndrome +   
Weismann Netter Syndrome 
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: SSFSC
Primary IDs: OMIM:617877

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