SE-ATLAS

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Roifman syndrome Autosomal recessive hypophosphatemic rickets Mesomelic dwarfism-cleft palate-camptodactyly syndrome Achondrogenesis type 1B Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Schimke immuno-osseous dysplasia Acromesomelic dysplasia, Maroteaux type Macrocephaly-short stature-paraplegia syndrome Weissenbacher-Zweymuller syndrome Rare immune disease Spondyloepiphyseal dysplasia, Maroteaux type Langer mesomelic dysplasia Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Seckel syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Dyssegmental dysplasia, Silverman-Handmaker type Non-acquired combined pituitary hormone deficiency Hypochondrogenesis X-linked spondyloepimetaphyseal dysplasia Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Pallister-Hall syndrome X-linked corneal dermoid Mandibulofacial dysostosis-microcephaly syndrome Mesomelic dysplasia, Nievergelt type 3M syndrome Autosomal recessive Stickler syndrome FGFR3-related chondrodysplasia Kniest dysplasia Rare sucking/swallowing disorder Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepiphyseal dysplasia tarda Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Spondyloepiphyseal dysplasia congenita Rare urogenital disease Mesomelic dwarfism, Reinhardt-Pfeiffer type Microcephalic primordial dwarfism, Montreal type X-linked creatine transporter deficiency Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepiphyseal dysplasia with metatarsal shortening Achondrogenesis type 1A Septopreoptic holoprosencephaly Sparse hair-short stature-skin anomalies syndrome Smith-McCort dysplasia Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Handigodu type X-linked intellectual disability with isolated growth hormone deficiency SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Atelosteogenesis type II Metatropic dysplasia Hereditary hypophosphatemic rickets with hypercalciuria Rare bone disease Progeria-short stature-pigmented nevi syndrome Stickler syndrome GMS syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Microcephalic osteodysplastic primordial dwarfism types I and III Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Brachydactylous dwarfism, Mseleni type Short stature-craniofacial anomalies-genital hypoplasia syndrome Silver-Russell syndrome due to 11p15 microduplication Semilobar holoprosencephaly Spondyloepimetaphyseal dysplasia, aggrecan type Hypophosphatemic rickets Short stature-pituitary and cerebellar defects-small sella turcica syndrome ANE syndrome Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Achondrogenesis Microcephalic osteodysplastic primordial dwarfism type II Silver-Russell syndrome Turner syndrome Spondyloepiphyseal dysplasia, Reardon type Otospondylomegaepiphyseal dysplasia Autosomal dominant otospondylomegaepiphyseal dysplasia Thanatophoric dysplasia Metaphyseal acroscyphodysplasia Spondyloepimetaphyseal dysplasia, Missouri type Deafness-epiphyseal dysplasia-short stature syndrome Braddock syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Rare odontologic disease Non-acquired panhypopituitarism Acromesomelic dysplasia, Hunter-Thompson type Wolcott-Rallison syndrome Johanson-Blizzard syndrome KBG syndrome Isolated growth hormone deficiency type IB Myhre syndrome Ear-patella-short stature syndrome Tarsal-carpal coalition syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Diastrophic dysplasia Anophthalmia/microphthalmia-esophageal atresia syndrome Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Autosomal recessive distal osteolysis syndrome Acromicric dysplasia Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Rare infertility Short-limb skeletal dysplasia with severe combined immunodeficiency Hoyeraal-Hreidarsson syndrome Marshall syndrome Geleophysic dysplasia Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondyloperipheral dysplasia-short ulna syndrome Achondroplasia SPONASTRIME dysplasia Dyssegmental dysplasia, Rolland-Desbuquois type Richieri Costa-da Silva syndrome Rare maxillo-facial surgical disease Geroderma osteodysplastica Short stature due to growth hormone qualitative anomaly Lenz-Majewski hyperostotic dwarfism Micromelic dwarfism, Fryns type Spondylo-megaepiphyseal-metaphyseal dysplasia Short stature-wormian bones-dextrocardia syndrome Schwartz-Jampel syndrome Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Intellectual disability-myopathy-short stature-endocrine defect syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome Richieri Costa-Pereira syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Urban-Rogers-Meyer syndrome Turner syndrome due to structural X chromosome anomalies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Skeletal dysplasia-epilepsy-short stature syndrome Pseudoachondroplasia Progressive pseudorheumatoid arthropathy of childhood Spondyloepimetaphyseal dysplasia, matrilin-3 type Rare inborn errors of metabolism Spondyloepimetaphyseal dysplasia with joint laxity Non-acquired isolated growth hormone deficiency Isolated growth hormone deficiency type III Larsen-like osseous dysplasia-short stature syndrome Dyggve-Melchior-Clausen disease Microcephalic primordial dwarfism, Toriello type Short stature-webbed neck-heart disease syndrome Thanatophoric dysplasia type 2 Spondyloepiphyseal dysplasia, MacDermot type Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Cleft palate-large ears-small head syndrome Léri-Weill dyschondrosteosis Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Silver-Russell syndrome due to 7p11.2p13 microduplication Absent thumb-short stature-immunodeficiency syndrome Combined pituitary hormone deficiencies, genetic forms Thanatophoric dysplasia type 1 Mulibrey nanism X-linked hypophosphatemia Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Alobar holoprosencephaly Rare chromosomal anomaly Laron syndrome Monosomy X Osteoglosphonic dysplasia Hypochondroplasia Short stature, Brussels type Lobar holoprosencephaly Septo-optic dysplasia spectrum Spondyloepimetaphyseal dysplasia, Bieganski type Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Oculo-palato-cerebral syndrome Cleft palate-short stature-vertebral anomalies syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome Anauxetic dysplasia Parastremmatic dwarfism Achondrogenesis type 2 Hypertrichosis cubiti Stickler syndrome type 2 Short stature-valvular heart disease-characteristic facies syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Hennekam-Beemer syndrome Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome Congenital laryngeal web Isolated growth hormone deficiency type IA Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Mosaic monosomy X Isolated growth hormone deficiency type II Sanjad-Sakati syndrome Spondyloepimetaphyseal dysplasia congenita, Strudwick type Stickler syndrome type 1 Disease associated with non-acquired combined pituitary hormone deficiency Autosomal dominant hypophosphatemic rickets Intellectual disability-short stature-hypertelorism syndrome