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Term:
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis (DOID:9009336)
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Parent Terms Term With Siblings Child Terms
Growth Disorders +     
scoliosis +     
3p- syndrome 
acheiropody  
achondrogenesis +   
achondroplasia +   
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
acromesomelic dysplasia +   
Acropectorovertebral Dysplasia 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Akaba Hayasaka Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Amelogenesis Imperfecta Hypomaturation Type +   
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1E  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
Amelogenesis Imperfecta Type 1J  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
Amelogenesis Imperfecta Type 3C  
amelogenesis imperfecta type 4  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Aphalangia Syndactyly Microcephaly 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Blount's disease 
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
brachyolmia +   
brachyolmia-amelogenesis imperfecta syndrome  
Brooks-Wisniewski-Brown syndrome 
Caffey disease +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cervical Hypertrichosis with Underlying Kyphoscoliosis 
Chitty Hall Baraitser Syndrome 
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
Clark-Baraitser Syndrome 
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS Syndrome  
Coffin Syndrome 1 
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Cone Rod Dystrophy Amelogenesis Imperfecta  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cote Katsantoni Syndrome 
COUSIN SYNDROME  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Czech Dysplasia, Metatarsal Type  
Daish Hardman Lamont Syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Dermoids of Cornea 
Desbuquois dysplasia +   
Devriendt syndrome 
diastrophic dysplasia  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fairbank Disease 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Horizontal Gaze Palsy with Progressive Scoliosis +   
Familial Osteochondritis Dissecans  
Faye-Petersen Ward Carey Syndrome 
Fetal Growth Retardation +   
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Filippi Syndrome  
Floating-Harbor Syndrome  
Forsythe-Wakeling Syndrome 
Fraser Jequier Chen Syndrome 
Frias Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Ghosal Hematodiaphyseal Dysplasia  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Greenberg Dysplasia  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Hip Dysplasia, Beukes Type  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
idiopathic scoliosis  
Idiopathic Short Stature, X-Linked  
Iida Kannari Syndrome 
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Jalili Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kashin-Beck Disease  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kohlschutter Tonz Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kyphoscoliosis +   
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndrome, Recessive Type  
Larsen Syndromes +   
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Maffucci syndrome 
Malocclusion and Short Stature 
Marshall Syndrome +   
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Micromelia Syndrome  
Microdontia Hypodontia Short Stature 
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Miura type epiphyseal chondrodysplasia  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nievergelt Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Ogden syndrome  
Ollier disease  
omodysplasia +   
Omodysplasia Type 1  
Omphalocele Exstrophy Imperforate Anus 
Onat Syndrome 
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
Osteolysis Syndrome Recessive 
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Parastremmatic Dwarfism  
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pili Torti Developmental Delay Neurological Abnormalities 
Pilotto Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Prata Libéral Gonçalves Syndrome 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
PSPH deficiency  
Pubic Bone Dysplasia 
pycnodysostosis  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Syndrome  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
rigid spine muscular dystrophy 1  
Rodrigues Blindness 
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs Syndrome  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Meyer Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Scoliosis, Arachnodactyly, and Blindness 
Seemanova Lesny Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT Syndrome  
Shprintzen Omphalocele Syndrome 
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slavotinek Pike Mills Hurst Syndrome 
Slipped Capital Femoral Epiphyses 
Sonoda Syndrome 
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
spondylocarpotarsal synostosis syndrome  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stern Lubinsky Durrie Syndrome 
Stuve-Wiedemann Syndrome  
syndromic X-linked intellectual disability Cabezas type  
Synostosis of Talus and Calcaneus with Short Stature 
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tonoki Syndrome 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Wittwer Syndrome 
Wolcott-Rallison syndrome  
Worth's syndrome  
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 +   
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: SSASKS
Primary IDs: OMIM:618363

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