Ontology Browser

Term:
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (DOID:9003030)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Facies +     
Growth Disorders +     
hypotrichosis +     
Malformed Nails +     
3p- syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
ADULT syndrome  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
alopecia +   
Alopecia Universalis, Onychodystrophy, Vitiligo 
Ameloonychohypohidrotic Syndrome 
Anonychia Onychodystrophy 
Anonychia with Flexural Pigmentation 
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Auriculoosteodysplasia 
autosomal recessive congenital ichthyosis 11  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Baraitser-Winter syndrome +   
Basan Syndrome  
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type E2  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachytelephalangy Characteristic Facies Kallmann 
Brooks-Wisniewski-Brown syndrome 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
cardiofaciocutaneous syndrome +   
Cartwright Nelson Fryns Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chitty Hall Baraitser Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
CODAS Syndrome  
Coffin Syndrome 1 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypotrichosis with juvenile macular dystrophy  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Cote Katsantoni Syndrome 
COUSIN SYNDROME  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cyprus Facial Neuromusculoskeletal Syndrome 
Daish Hardman Lamont Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Dermoids of Cornea 
Dermoodontodysplasia 
Devriendt syndrome 
Digitorenocerebral Syndrome  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Double Nail for Fifth Toe 
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
FACES Syndrome 
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Osteochondritis Dissecans  
Feingold Trainer Syndrome 
Fetal Growth Retardation +   
fibrochondrogenesis +   
Filippi Syndrome  
Floating-Harbor Syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Fryns Macrocephaly 
Fryns Syndrome 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Bushkell Jensen Syndrome 
Granddad Syndrome 
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, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Hairy Elbows 
Haspeslagh Fryns Muelenaere Syndrome 
Heme Oxygenase 1 Deficiency  
Hereditary Koilonychia 
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Holoprosencephaly 10 
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
Hypotrichosis 14  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis and recurrent skin vesicles  
hypotrichosis of eyelid 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Idiopathic Short Stature, X-Linked  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
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 
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kahrizi syndrome  
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kumar Levick Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Mammary-Digital-Nail Syndrome 
Marfanoid Mental Retardation Syndrome, Autosomal 
McDonough Syndrome 
McPherson Clemens Syndrome 
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
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  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Pterygium Syndrome, X-Linked 
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 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen Breakage Syndrome-Like Disorder  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonsyndromic congenital nail disorder 1 
nonsyndromic congenital nail disorder 10  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 8  
nonsyndromic congenital nail disorder 9  
Oculotrichodysplasia 
Ogden syndrome  
Omodysplasia 2  
Omodysplasia Type 1  
Onat Syndrome 
Onycholysis, Partial, with Scleronychia 
Onychotrichodysplasia and Neutropenia 
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome Recessive 
Otoonychoperoneal Syndrome 
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pili Torti Developmental Delay Neurological Abnormalities 
Pili Torti Onychodysplasia 
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Polydysspondyly 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Facial Appearance with Hand Anomalies 
Progeroid Syndrome, Congenital, Petty Type  
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Roifman-Chitayat Syndrome 
Rombo syndrome 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs Syndrome  
Ruvalcaba Syndrome 
Santos Syndrome 
Say Meyer Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schopf-Schulz-Passarge Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Seemanova Lesny 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 WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT Syndrome  
Shprintzen Omphalocele Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Snijders Blok-Campeau Syndrome  
Sonoda Syndrome 
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Steatocystoma Multiplex with Natal Teeth 
Stern Lubinsky Durrie Syndrome 
Storm Syndrome 
syndromic X-linked intellectual disability Cabezas type  
Synostosis of Talus and Calcaneus with Short Stature 
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Kaurah Syndrome 
Temple-Baraitser syndrome  
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tonoki Syndrome 
tooth and nail syndrome  
Total Anonychia with Microcephaly 
Trichohepatoenteric Syndrome +   
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type III  
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Ulnar Hypoplasia with Mental Retardation 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Wellesley Carmen French Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Wittwer Syndrome 
Woolly Hair, Autosomal Recessive 3  
yellow nail syndrome +  
Young Hughes Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: SOFT ;   SOFT Syndrome
Primary IDs: OMIM:614813 ;   RDO:9001072

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