| children | - 11q22.2q22.3 microdeletion syndrome 1229882003
- 12q14 microdeletion syndrome 719046005
- 1p35.2 microdeletion syndrome 1228844002
- 21q22.11q22.12 microdeletion syndrome 787171006
- 46,XX ovarian dysgenesis, short stature syndrome 1237345002
- 9q33.3q34.11 microdeletion syndrome 1228886008
- Acromicric dysplasia 254090007
- Asexual dwarfism 7530009
- Ataxia, photosensitivity, short stature syndrome 773769008
- Atkin Flaitz syndrome 718577005
- Autosomal recessive Robinow syndrome 890237005
- Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005
- Biemond syndrome type 2 717887003
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome 717914000
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brachytelephalangy, facial dysmorphism, Kallmann syndrome 720574003
- Cardiospondylocarpofacial syndrome 720612000
- Caudal appendage deafness syndrome 726621009
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Cleft palate with short stature and vertebral anomaly syndrome 719466009
- Cleft palate, large ears, small head syndrome 763130006
- Cleidorhizomelic syndrome 719471002
- Coffin-Lowry syndrome 15182000
- Congenital generalized hypercontractile muscle stiffness syndrome 1174000008
- Congenital malformation syndromes associated with short stature 205808005
- Constitutional short stature 190584003 removed: 2006-07-31
- Constitutional short stature 422065006
- Coxoauricular syndrome 732248005
- Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
- Craniofaciofrontodigital syndrome 763320005
- Craniolenticulosutural dysplasia 725100001
- Crome syndrome 722381004
- De Sanctis-Cacchione syndrome 414673004 removed: 2018-07-31
- Deafness, vitiligo, achalasia syndrome 733069009
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Diastrophic dysplasia 58561002
- Disproportionate short stature 772086000
- Distal arthrogryposis type 3 897570002
- Dolichocephalic dwarfism 39401000
- Dwarfism NEC 190583009 removed: 2010-01-31
- Dwarfism, alopecia, pseudoanodontia, cutis laxa 239025003
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Dyssegmental dysplasia with glaucoma syndrome 715992003 removed: 2019-07-31
- Emery Nelson syndrome 773768000
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome 771179007
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- Floating-Harbor syndrome 312214005
- GAPO syndrome 721843003
- Geleophysic dysplasia 28557005
- GEMSS syndrome 722450007
- GMS syndrome 716024001
- Growth delay due to insulin-like growth factor I resistance 715625007
- Hadziselimovic syndrome 719395001
- Haspeslagh Fryns Muelenaere syndrome 716090004
- Hennekam Beemer syndrome 722453009
- Hypogonadism with mitral valve prolapse and intellectual disability syndrome 721841001
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypothyroid dwarfism 216693007
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome 733097003
- Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005
- Idiopathic short stature 133221000119100
- Infantile dwarf 21265004
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome 773552008
- Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, short stature, hypertelorism syndrome 771077007
- Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome 1177178005
- Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome 1197592001
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
- Laron syndrome with immunodeficiency 724179008
- Laron-type isolated somatotropin defect 38196001
- Larsen-like osseous dysplasia, short stature syndrome 764956007
- Leprechaunism syndrome 111307005
- Leri-Weill dyschondrosteosis 17818006
- Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome 25109007 removed: 2020-01-31
- Macrocephaly, short stature, paraplegia syndrome 722033000
- Maroteaux-Lamy syndrome 69463008
- Mauriac's syndrome 80660001
- Menke Hennekam syndrome 1260095004
- Mesomelic dysplasia Kantaputra type 719397009
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 771074000
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Myhre syndrome 699316006
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 764995008
- Nijmegen breakage syndrome-like disorder 766753005
- Nutritional stunting 302869005
- Oculocerebrodental syndrome 1255268002
- Oculomaxillofacial dysostosis 763830009
- Oliver McFarlane syndrome 719944006
- Oral-facial-digital syndrome with short stature and brachymesophalangia 1177179002
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Osteogenesis imperfecta type 5 1003379004
- Other specified dwarfism NEC 267407001 removed: 2010-01-31
- Pectus excavatum, macrocephaly, dysplastic nails syndrome 763863002
- Primary immunodeficiency syndrome due to p14 deficiency 718717004
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 782755007
- Primordial dwarfism 237837007
- Proportionate short stature 772085001
- Pseudoleprechaunism syndrome Patterson type 771262009
- Psychosocial short stature 1217076005
- QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003
- Rachitic dwarf 13109008
- Radioulnar synostosis with microcephaly and scoliosis syndrome 719162001
- Reinhardt Pfeiffer mesomelic dysplasia 715472000
- Renal dwarfism 36914006
- Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000
- Rhizomelic dysplasia Patterson Lowry type 715505002
- Rud's syndrome 2355008
- Senile dwarfism 59319000 removed: 2020-07-31
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome 773419004
- Severe lateral tibial bowing with short stature 766819001
- Severe myopia, generalized joint laxity, short stature syndrome 1217372003
- Short stature associated with bone marrow transplant 429362002
- Short stature Brussels type 719213009
- Short stature co-occurrent and due to endocrine disorder 368331000119100
- Short stature disorder due to osteosclerosis 1153392009
- Short stature due to primary acid labile subunit deficiency 721074002
- Short stature due to radiation therapy 431038007
- Short stature locking fingers syndrome 726734001
- Short stature of childhood 735643002
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, advanced bone age, early-onset osteoarthritis syndrome 1197586007
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
- Short stature, developmental delay, congenital heart defect syndrome 1237512003
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000
- Short stature, wormian bones, dextrocardia syndrome 763631006
- SHOX-related short stature 763868006
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Spondyloepiphyseal dysplasia Cantu type 718765003
- Spondyloepiphyseal dysplasia Reardon type 718764004
- Steel syndrome 1197589000
- Stimmler syndrome 733072002
- Subaortic stenosis and short stature syndrome 783096008
- Thanatophoric dysplasia 29352008
- Thoracomelic dysplasia 783003009
- Thumb deformity, alopecia, pigmentation anomaly syndrome 771182002
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- True dwarfism 185797004 removed: 2015-01-31
- Tryptophanuria with dwarfism 12045002
- Urban Rogers Meyer syndrome 716334004
- Velofacioskeletal syndrome 763616002
- Wellesley Carman French syndrome 715988005
- Wiedemann Steiner syndrome 763618001
- X-linked agammaglobulinemia with growth hormone deficiency 234533006
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, short stature, overweight syndrome 1255335006
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