3M syndrome
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(Orphanet:2616)
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Achondrogenesis
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(Orphanet:932)
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Achondrogenesis type 1B
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(Orphanet:93298)
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Achondrogenesis type 2
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(Orphanet:93296)
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Acrocapitofemoral dysplasia
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(Orphanet:63446)
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Bone dysplasia, lethal Holmgren type
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(Orphanet:1842)
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CHILD syndrome
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(Orphanet:139)
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CLEIDOCRANIAL DYSPLASIA
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(OMIM:119600)
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Chondrodysplasia, Blomstrand type
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(Orphanet:50945)
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Cleidocranial dysplasia
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(Orphanet:1452)
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Cranioectodermal dysplasia
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(Orphanet:1515)
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Cranioectodermal dysplasia 1
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(OMIM:218330)
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Craniosynostosis - anal anomalies - porokeratosis
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(Orphanet:85199)
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Dysosteosclerosis
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(Orphanet:1782)
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Dyssegmental dysplasia, Rolland-Desbuquois type
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(Orphanet:156731)
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Ear-patella-short stature syndrome
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(Orphanet:2554)
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Ellis Van Creveld syndrome
|
(Orphanet:289)
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FIBROCHONDROGENESIS 2
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(OMIM:614524)
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Fetal Gaucher disease
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(Orphanet:85212)
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Fibrochondrogenesis
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(Orphanet:2021)
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Focal dermal hypoplasia
|
(Orphanet:2092)
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Gorlin syndrome
|
(Orphanet:377)
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Greenberg dysplasia
|
(Orphanet:1426)
|
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED
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(OMIM:241800)
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Hurler-Scheie syndrome
|
(Orphanet:93476)
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Infantile hypophosphatasia
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(Orphanet:247651)
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Jeune syndrome
|
(Orphanet:474)
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Lethal Kniest-like dysplasia
|
(Orphanet:2347)
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MEIER-GORLIN SYNDROME 1
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(OMIM:224690)
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MEIER-GORLIN SYNDROME 3
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(OMIM:613803)
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Metaphyseal chondrodysplasia, Jansen type
|
(Orphanet:33067)
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Metaphyseal dysostosis - intellectual deficit - conductive deafness
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(Orphanet:2502)
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Mucolipidosis type 3
|
(Orphanet:577)
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Otopalatodigital syndrome
|
(Orphanet:669)
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Perinatal lethal hypophosphatasia
|
(Orphanet:247623)
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Platyspondylic dysplasia, Torrance type
|
(Orphanet:85166)
|
Poland syndrome
|
(Orphanet:2911)
|
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
|
(OMIM:610319)
|
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
|
(OMIM:615087)
|
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
|
(OMIM:263510)
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SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
|
(OMIM:613320)
|
Saldino-Mainzer syndrome
|
(Orphanet:140969)
|
Schneckenbecken dysplasia
|
(Orphanet:3144)
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Severe achondroplasia - developmental delay - acanthosis nigricans
|
(Orphanet:85165)
|
Short rib-polydactyly syndrome, Beemer-Langer type
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(Orphanet:93268)
|
Short rib-polydactyly syndrome, Majewski type
|
(Orphanet:93269)
|
Short rib-polydactyly syndrome, Saldino-Noonan type
|
(Orphanet:93270)
|
Short-rib thoracic dysplasia 10 with or without polydactyly
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(OMIM:615630)
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Short-rib thoracic dysplasia 13 with or without polydactyly
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(OMIM:616300)
|
Short-rib thoracic dysplasia 3 with or without polydactyly
|
(OMIM:613091)
|
Short-rib thoracic dysplasia 4 with or without polydactyly
|
(OMIM:613819)
|
Short-rib thoracic dysplasia 6 with or without polydactyly
|
(OMIM:263520)
|
Short-rib thoracic dysplasia 7 with or without polydactyly
|
(OMIM:614091)
|
Short-rib thoracic dysplasia 8 with or without polydactyly
|
(OMIM:615503)
|
Spondylo-megaepiphyseal-metaphyseal dysplasia
|
(Orphanet:228387)
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Spondylocostal dysostosis - anal and genitourinary malformations
|
(Orphanet:94095)
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Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
|
(Orphanet:93358)
|
Spondyloepimetaphyseal dysplasia, Shohat type
|
(Orphanet:93352)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
THANATOPHORIC DYSPLASIA, TYPE II
|
(OMIM:187601)
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THORACIC DYSOSTOSIS, ISOLATED
|
(OMIM:187750)
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THORACOPELVIC DYSOSTOSIS
|
(OMIM:187770)
|
THREE M SYNDROME 1
|
(OMIM:273750)
|
Thanatophoric dysplasia type 1
|
(Orphanet:1860)
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Thoracic dysplasia-hydrocephalus syndrome
|
(Orphanet:1861)
|
Thoracolaryngopelvic dysplasia
|
(Orphanet:3317)
|
Thoracomelic dysplasia
|
(Orphanet:1803)
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Ulbright-Hodes syndrome
|
(Orphanet:3404)
|
Weaver syndrome
|
(Orphanet:3447)
|
Wolcott-Rallison syndrome
|
(Orphanet:1667)
|