Acro-Osteolysis
Acrocapitofemoral Dysplasia
Acromesomelic dysplasia, Maroteaux type
Acromicric dysplasia
ACTH Deficiency, Isolated
Adrenal Gland Diseases
Adrenal Hyperplasia, Congenital
Adrenocortical Hypofunction, Chronic Primary Congenital
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Alagille Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
alpha 1-Antitrypsin Deficiency
Alpha-2-Deficient Collagen Disease
Anemia, Hemolytic, Congenital
Anemia, Hypoplastic, Congenital
Angel shaped phalangoepiphyseal dysplasia
Angioedemas, Hereditary
Ataxia Telangiectasia
Atrial Standstill
Autoimmune Lymphoproliferative Syndrome
Baby Rattle Pelvis Dysplasia
Basal Cell Nevus Syndrome
Battaglia Neri syndrome
Bazopoulou Kyrkanidou syndrome
Bellini Chiumello Rimoldi syndrome
Blood Coagulation Disorders, Inherited
Blount disease
Bone Diseases, Endocrine
Bone Dysplasia, Lethal, Holmgren Type
Brachioskeletogenital syndrome
Brachymesomelia renal syndrome
Brittle Bone Disorder
Brugada Syndrome
CADASIL
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
Camurati-Engelmann Syndrome
Cardiomyopathy, Hypertrophic, Familial
CATSHL syndrome
Cerebral Palsy, Ataxic, Autosomal Recessive
Cervical Vertebral Dysplasia
CHARGE Syndrome
Cherubism
Chromosome Disorders
Cirrhosis, Familial
Complement Factor I Deficiency
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Corticosteroid-Binding Globulin Deficiency
Costello Syndrome
Craniolenticulosutural Dysplasia
Cryoglobulinemia, Familial Mixed
Cystic Fibrosis
Deafness conductive ptosis skeletal anomalies
Diabetes Mellitus
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Donohue Syndrome
Doughnut Lesions of Skull, Familial
Dwarfism
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Dysostoses
Dysplasia epiphysealis hemimelica
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
Endocrine Gland Neoplasms
Endocrine-Cerebroosteodysplasia
Epistaxis, Hereditary
Eye Diseases, Hereditary
Fountain syndrome
Frasier Syndrome
Fryns Hofkens Fabry syndrome
Funnel Chest
Genetic Diseases, X-Linked
Genetic Diseases, Y-Linked
Gigantism
Gonadal Disorders
Gracile bone dysplasia
Gurrieri Sammito Bellussi syndrome
Hajdu-Cheney Syndrome
Hall Riggs mental retardation syndrome
Hemoglobinopathies
Hepatic Fibrosis, Congenital
Hereditary Autoinflammatory Diseases
Hereditary Myopathy with Early Respiratory Failure
Heredodegenerative Disorders, Nervous System
Histiocytosis, Familial Lipochrome
Hyperthyroxinemia, Familial Dysalbuminemic
Interstitial Pneumonitis, Desquamative, Familial
Ischiopatellar dysplasia
Kallmann Syndrome
Kantaputra Gorlin syndrome
Kartagener Syndrome
KBG syndrome
Kozlowski Rafinski Klicharska syndrome
Kozlowski Warren Fisher syndrome
Kyphomelic dysplasia
Larsen syndrome, recessive type
Leg Length Inequality
Lenz Majewski hyperostotic dwarfism
Lissencephaly Type III and Bone Dysplasia
Loeys-Dietz Syndrome
Macroepiphyseal dysplasia, McAlister Coe type
Macrosomia Adiposa Congenita
Marfan Syndrome
Marshall-Smith syndrome
Membranous Cranial Ossification, Delayed
Mesomelic Dysplasia, Camera Type
Mesomelic Limb Shortening and Bowing
Metabolism, Inborn Errors
Mononen Karnes Senac syndrome
Muscular Dystrophies
Myasthenic Syndromes, Congenital
Nail-Patella Syndrome
Neoplastic Syndromes, Hereditary
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Osteochondrodysplasias
Osteofibrous Dysplasia
Osteogenesis Imperfecta
Osteolysis, Essential
Osteosclerosis with ichthyosis and premature ovarian failure
Pain Insensitivity, Congenital
Parathyroid Diseases
Parotidomegaly, Hereditary Bilateral
Patterson pseudoleprechaunism syndrome
Pelger-Huet Anomaly
Pituitary Diseases
Platelet Glycoprotein IV Deficiency
Platybasia
Pointer syndrome
Polycystic Kidney, Autosomal Recessive
Polyendocrinopathies, Autoimmune
Prenatal Bowing
Prolactin Deficiency, Isolated
Proprotein Convertase 1 3 Deficiency
PROPROTEIN CONVERTASE 1/3 DEFICIENCY
Proteus Syndrome
Puerto Rican Infant Hypotonia Syndrome
Pulmonary Alveolar Microlithiasis
Pycnodysostosis
Radius absent anogenital anomalies
Retinohepatoendocrinologic Syndrome
Rh Deficiency Syndrome
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Rhizomelic syndrome
Roifman-Chitayat Syndrome
Santos Syndrome
Schwartz-Lelek syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa
Skin Diseases, Genetic
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers syndrome
Stoll Levy Francfort syndrome
TERMINAL OSSEOUS DYSPLASIA
Thyroid Diseases
TORG-WINCHESTER SYNDROME
Trichoodontoonychial Dysplasia
Tuberculosis, Endocrine
Ulna hypoplasia with mental retardation
Vertebral body fusion overgrowth
Weill-Marchesani Syndrome
Weismann Netter syndrome
Werner Syndrome
Wiedemann Oldigs Oppermann syndrome
Yellow Nail Syndrome
