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