ARTHROGRYPOSIS, DISTAL, TYPE 1A
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(OMIM:108120)
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ASYMMETRIC SHORT STATURE SYNDROME
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(OMIM:108450)
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Acrocapitofemoral dysplasia
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(Orphanet:63446)
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Acrofacial dysostosis, Palagonia type
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(Orphanet:1787)
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Acromesomelic dysplasia, Grebe type
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(Orphanet:2098)
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Acromesomelic dysplasia, Maroteaux type
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(Orphanet:40)
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Amaurosis - hypertrichosis
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(Orphanet:1021)
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Ankyloblepharon - ectodermal defects - cleft lip/palate
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(Orphanet:1071)
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Arthrogryposis multiplex congenita
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(Orphanet:1037)
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Arthrogryposis with oculomotor limitation and electroretinal anomalies
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(Orphanet:1154)
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Autosomal dominant Kenny-Caffey syndrome
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(Orphanet:93325)
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Autosomal dominant brachyolmia
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(Orphanet:93304)
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Autosomal recessive facio-digito-genital syndrome
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(Orphanet:1974)
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Autosomal recessive multiple pterygium syndrome
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(Orphanet:2990)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
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(OMIM:218400)
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CYSTINOSIS, NEPHROPATHIC
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(OMIM:219800)
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Catel-Manzke syndrome
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(Orphanet:1388)
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Cerebellar ataxia - ectodermal dysplasia
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(Orphanet:1174)
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Congenital muscular dystrophy, Ullrich type
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(Orphanet:75840)
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Congenital pulmonary lymphangiectasia
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(Orphanet:2414)
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Cranioectodermal dysplasia 1
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(OMIM:218330)
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Cranioectodermal dysplasia 2
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(OMIM:613610)
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Craniofrontonasal dysplasia
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(Orphanet:1520)
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Craniosynostosis - intracranial calcifications
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(Orphanet:52054)
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Cryptomicrotia - brachydactyly - excess fingertip arch
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(Orphanet:1547)
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DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
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(OMIM:600771)
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DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
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(OMIM:304950)
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Diastrophic dwarfism
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(Orphanet:628)
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Dyschondrosteosis - nephritis
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(Orphanet:1765)
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ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
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(OMIM:600907)
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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
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(OMIM:607682)
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EPILEPSY, MYOCLONIC JUVENILE
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(OMIM:254770)
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Femoral-facial syndrome
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(Orphanet:1988)
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Greig cephalopolysyndactyly syndrome
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(Orphanet:380)
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HAJDU-CHENEY SYNDROME
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(OMIM:102500)
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Isolated oxycephaly
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(Orphanet:63440)
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Juvenile hyaline fibromatosis
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(Orphanet:2028)
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Keutel syndrome
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(Orphanet:85202)
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Langer mesomelic dysplasia
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(Orphanet:2632)
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MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
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(OMIM:252700)
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Mesomelic dwarfism, Nievergelt type
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(Orphanet:2633)
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Metaphyseal chondrodysplasia, Kaitila type
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(Orphanet:166038)
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Microcephalic osteodysplastic primordial dwarfism type 2
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(Orphanet:2637)
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Mucopolysaccharidosis type 4A
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(Orphanet:309297)
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Mucopolysaccharidosis type 4B
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(Orphanet:309310)
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Mucopolysaccharidosis type 6
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(Orphanet:583)
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Mulibrey nanism
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(Orphanet:2576)
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NEMALINE MYOPATHY 5
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(OMIM:605355)
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Nager syndrome
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(Orphanet:245)
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OSTEOGENESIS IMPERFECTA, TYPE XIII
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(OMIM:614856)
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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
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(OMIM:259710)
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Parastremmatic dwarfism
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(Orphanet:2646)
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Phocomelia - ectrodactyly - deafness - sinus arrhythmia
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(Orphanet:2878)
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Primordial short stature - microdontia - opalescent and rootless teeth
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(Orphanet:46658)
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Pseudoachondroplasia
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(Orphanet:750)
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RAPADILINO syndrome
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(Orphanet:3021)
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Renal coloboma syndrome
|
(Orphanet:1475)
|
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES
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(OMIM:602471)
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SHORT syndrome
|
(Orphanet:3163)
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SMITH-MCCORT DYSPLASIA 1
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(OMIM:607326)
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SPECIFIC LANGUAGE IMPAIRMENT 1
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(OMIM:606711)
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SPECIFIC LANGUAGE IMPAIRMENT 2
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(OMIM:606712)
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SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
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(OMIM:607944)
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SYMPHALANGISM, PROXIMAL, 1A
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(OMIM:185800)
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Scheie syndrome
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(Orphanet:93474)
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Schimke immuno-osseous dysplasia
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(Orphanet:1830)
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Spondyloepimetaphyseal dysplasia - abnormal dentition
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(Orphanet:168451)
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Spondyloepimetaphyseal dysplasia congenita, Strudwick type
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(Orphanet:93346)
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Spondyloepiphyseal dysplasia, Maroteaux type
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(Orphanet:263482)
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Stüve-Wiedemann syndrome
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(Orphanet:3206)
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Summitt syndrome
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(Orphanet:3210)
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THREE M SYNDROME 1
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(OMIM:273750)
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TRICHORHINOPHALANGEAL SYNDROME, TYPE I
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(OMIM:190350)
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TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
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TRIGONOCEPHALY 1
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(OMIM:190440)
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URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
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(OMIM:300280)
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Van den Ende-Gupta syndrome
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(Orphanet:2460)
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Velo-facial-skeletal syndrome
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(Orphanet:3424)
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X-linked non progressive cerebellar ataxia
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(Orphanet:314978)
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X-linked spondyloepimetaphyseal dysplasia
|
(Orphanet:93349)
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