Achondrogenesis
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(Orphanet:932)
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BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
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(OMIM:609945)
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Brachydactyly type E
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(Orphanet:93387)
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Brachydactyly-long thumb syndrome
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(Orphanet:2946)
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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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Cerebro-facio-articular syndrome
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(Orphanet:314679)
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Cleidocranial dysplasia
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(Orphanet:1452)
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Craniosynostosis - anal anomalies - porokeratosis
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(Orphanet:85199)
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DESBUQUOIS DYSPLASIA 2
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(OMIM:615777)
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Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
(Orphanet:2229)
|
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1
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(OMIM:130070)
|
Ehlers-Danlos syndrome, progeroid type
|
(Orphanet:75496)
|
FGFR2-related bent bone dysplasia
|
(Orphanet:313855)
|
MICROPHTHALMIA, SYNDROMIC 1
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(OMIM:309800)
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Mandibuloacral dysplasia
|
(Orphanet:2457)
|
Mandibuloacral dysplasia with type A lipodystrophy
|
(Orphanet:90153)
|
Mandibuloacral dysplasia with type B lipodystrophy
|
(Orphanet:90154)
|
Mucopolysaccharidosis type 1
|
(Orphanet:579)
|
Occipital horn syndrome
|
(Orphanet:198)
|
Osteodysplasty, Melnick-Needles type
|
(Orphanet:2484)
|
Parietal foramina with cleidocranial dysplasia
|
(Orphanet:251290)
|
Pelvis-shoulder dysplasia
|
(Orphanet:2839)
|
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
|
(OMIM:610319)
|
Richieri Costa-Pereira syndrome
|
(Orphanet:3102)
|
Ulnar-mammary syndrome
|
(Orphanet:3138)
|
VAN MALDERGEM SYNDROME 1
|
(OMIM:601390)
|
VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
|
X-linked spondyloepimetaphyseal dysplasia
|
(Orphanet:93349)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|