Severe short stature

Symptom Information:

Symptom ID: HPO:0003510
Synonyms:
Dwarfism [HPO:0003510]
Proportionate dwarfism [HPO:0003510]
Short stature, severe [HPO:0003510]
Dwarfism [Orphanet:53350]
Primordial dwarfism (disorder) [Orphanet:53350]
Constitutional short stature (disorder) [Orphanet:53350]
Dwarfism (disorder) [Orphanet:53350]
Short stature disorder (disorder) [Orphanet:53350]
Dwarfism [OMIM:Dwarfism]
Proportionate dwarfism [OMIM:Proportionate dwarfism]
Short stature, severe [OMIM:Short stature, severe]
Short stature/dwarfism/nanism [Orphanet:53350]
Dwarfism [MedDRA:10013883]
Dwarf [MedDRA:10013883]
Dwarfism NOS [MedDRA:10013883]
Dwarfism, not elsewhere classified [MedDRA:10013883]
Nanism [MedDRA:10013883]
Pituitary dwarfism [MedDRA:10013883]
Runting [MedDRA:10013883]
Short stature, severe (in some patients) [OMIM:Short stature, severe (in some patients)]
Quality:
Cross references:
Orphanet:53350 "Short stature/dwarfism/nanism" [Orphanet:53350]
OMIM: "Dwarfism" [OMIM:Dwarfism]
OMIM: "Proportionate dwarfism" [OMIM:Proportionate dwarfism]
OMIM: "Short stature, severe" [OMIM:Short stature, severe]
OMIM: "Short stature, severe (in some patients)" [OMIM:Short stature, severe (in some patients)]
UMLS:C0013336 "Dwarfism" [HPO:0003510]
UMLS:C0013336 "Dwarfism" [Orphanet:53350]
Is a (Direct Parents):
Orphanet Build/stature/longevity anomalies
MedDRA Metabolic bone disorders
HPO         Proportionate short stature
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Growth delay(HPO:0001510)
             Short stature(HPO:0004322)
                Proportionate short stature(HPO:0003508)
                   Severe short stature(HPO:0003510)
          Abnormality of body height(HPO:0000002)
             Short stature(HPO:0004322)
                Proportionate short stature(HPO:0003508)
                   Severe short stature(HPO:0003510)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Bone disorders (excl congenital and fractures)(MedDRA:10005959)
       Metabolic bone disorders(MedDRA:10027425)
          Severe short stature(HPO:0003510)
Database Frequency: 90 / 7739
Resource:

All diseases associated with this symptom:

AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS (OMIM:204730)
AREDYLD syndrome (Orphanet:1133)
Acromicric dysplasia (Orphanet:969)
Alström syndrome (Orphanet:64)
Argininosuccinic aciduria (Orphanet:23)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Autosomal dominant Kenny-Caffey syndrome (Orphanet:93325)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Bangstad syndrome (Orphanet:1227)
Bardet-Biedl syndrome (Orphanet:110)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Bloom syndrome (Orphanet:125)
Blue diaper syndrome (Orphanet:94086)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Boomerang dysplasia (Orphanet:1263)
Brachydactylous dwarfism, Mseleni type (Orphanet:2619)
Bullous dystrophy, macular type (Orphanet:1867)
Buschke-Ollendorff syndrome (Orphanet:1306)
CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS (OMIM:215050)
CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM (OMIM:216330)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Cockayne syndrome (Orphanet:191)
Cystinosis (Orphanet:213)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES (OMIM:127200)
DWARFISM WITH TALL VERTEBRAE (OMIM:126950)
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS (OMIM:600771)
DWARFISM, LEVI TYPE (OMIM:127100)
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE (OMIM:223500)
DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION (OMIM:223550)
De Barsy syndrome (Orphanet:2962)
Desbuquois syndrome (Orphanet:1425)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
Galactosialidosis (Orphanet:351)
Geroderma osteodysplastica (Orphanet:2078)
Hurler-Scheie syndrome (Orphanet:93476)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Isolated growth hormone deficiency type IA (Orphanet:231662)
Isolated growth hormone deficiency type II (Orphanet:231679)
Kearns-Sayre syndrome (Orphanet:480)
Kenny-Caffey syndrome (Orphanet:2333)
Keratosis follicularis - dwarfism - cerebral atrophy (Orphanet:2339)
Laron syndrome (Orphanet:633)
Laron syndrome with immunodeficiency (Orphanet:220465)
Leprechaunism (Orphanet:508)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metatropic dysplasia (Orphanet:2635)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Mowat-Wilson syndrome (Orphanet:2152)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 4 (Orphanet:582)
Parastremmatic dwarfism (Orphanet:2646)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Pseudodiastrophic dysplasia (Orphanet:85174)
Rabson-Mendenhall syndrome (Orphanet:769)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
SYNDESMODYSPLASIC DWARFISM (OMIM:272450)
SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM (OMIM:186575)
Split hand - split foot - deafness (Orphanet:71271)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Stimmler syndrome (Orphanet:3199)
TRYPTOPHANURIA WITH DWARFISM (OMIM:276100)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Weismann-Netter syndrome (Orphanet:3344)
Werner syndrome (Orphanet:902)
Wolcott-Rallison syndrome (Orphanet:1667)
XFE PROGEROID SYNDROME (OMIM:610965)