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acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Acropectorovertebral Dysplasia
asphyxiating thoracic dystrophy +
Auditory Neuropathy and Optic Atrophy
Bosch-Boonstra-Schaaf optic atrophy syndrome
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Charcot-Marie-Tooth disease X-linked recessive 5
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Congenital Micromelic Dysplasia with Dislocation of Radius +
Czech Dysplasia, Metatarsal Type
diaphyseal medullary stenosis with malignant fibrous histiocytoma
dominant optic atrophy plus syndrome
Dyschondrosteosis and Nephritis
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Exostoses with Anetodermia and Brachydactyly Type E
Familial Osteodysplasia, Anderson Type
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
Hagemoser Weinstein Bresnick Syndrome
Hyperostosis Frontalis Interna +
hypertrichotic osteochondrodysplasia Cantu type
Hypomyelinating Leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Jequier Kozlowski Skeletal Dysplasia
Konigsmark Knox Hussels Syndrome
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Leber hereditary optic neuropathy +
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Camera Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly-Micromelia Syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Optic Atrophy Spastic Paraplegia Syndrome
Optic Atrophy with Demyelinating Disease of CNS
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
progressive pseudorheumatoid arthropathy of childhood
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spastic Paraplegia, Optic Atrophy, and Dementia
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
Subacute Necrotizing Encephalomyelopathy of Leigh, Adult
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
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