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acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Acropectorovertebral Dysplasia
asphyxiating thoracic dystrophy +
benign neonatal seizures +
Caffey disease + A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. (DO)
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
chondrodysplasia-pseudohermaphroditism syndrome
cleidocranial dysplasia +
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Congenital Hyperinsulinism +
Congenital Micromelic Dysplasia with Dislocation of Radius +
Cutis Laxa-Marfanoid Syndrome
Czech Dysplasia, Metatarsal Type
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diffuse idiopathic skeletal hyperostosis +
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
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Familial Osteodysplasia, Anderson Type
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
Hyperglycinemia, Transient Neonatal
Hyperostosis Cranialis Interna
Hyperostosis Frontalis Interna +
Hyperparathyroidism, Neonatal Severe Primary
hypertrichotic osteochondrodysplasia Cantu type
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infantile Hypercalcemia +
Jequier Kozlowski Skeletal Dysplasia
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
meconium aspiration syndrome
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 +
neonatal abstinence syndrome
Neonatal Alloimmune Thrombocytopenia
Neonatal Hyperbilirubinemia +
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica
Neonatal Inflammatory Skin and Bowel Disease +
Neonatal Pulmonary Hypertension
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osgood-Schlatter's disease
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Paget's disease of bone +
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
persistent fetal circulation syndrome
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Polyosteolysis-Hyperostosis Syndrome
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Premature Infant Diseases +
progressive pseudorheumatoid arthropathy of childhood
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Rothmund-Thomson syndrome +
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
secondary hypertrophic osteoarthropathy
severe combined immunodeficiency +
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
SOST-related sclerosing bone dysplasia
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Sternocostoclavicular Hyperostosis
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
transient neonatal thrombocytopenia
Trichorhinophalangeal Syndrome +
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
vitamin K deficiency bleeding
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
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