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Adrenocortical Hypofunction, Chronic Primary Congenital
adrenocorticotropic hormone deficiency
advanced sleep phase syndrome 3
age related macular degeneration 8
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
alopecia, neurologic defects, and endocrinopathy syndrome
Alpha-2-Deficient Collagen Disease
Angel Shaped Phalangoepiphyseal Dysplasia
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
atrial heart septal defect 3
atrial heart septal defect 4
autoimmune disease of endocrine system +
autoimmune lymphoproliferative syndrome +
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
cataract 26 multiple types
Cenani-Lenz syndactyly syndrome
Cervical Vertebral Dysplasia
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
Conductive Deafness with Ptosis and Skeletal Anomalies
Congenital Hepatic Fibrosis
Congenital Pain Insensitivity +
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
desquamative interstitial pneumonia
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
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.
Dysplasia Epiphysealis Hemimelica +
Endocrine Bone Diseases +
Endocrine Gland Neoplasms +
endocrine-cerebro-osteodysplasia syndrome
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
familial hypertrophic cardiomyopathy +
Familial Lipochrome Histiocytosis
Familial Mixed Cryoglobulinemia
Familial Temporal Epilepsy +
Female Athlete Triad Syndrome
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Fryns Hofkens Fabry Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
Hereditary Bilateral Parotidomegaly
Hereditary Eye Diseases +
Hereditary Neoplastic Syndromes +
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2
inherited metabolic disorder +
Isolated Prolactin Deficiency
Kantaputra Gorlin Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Macrosomia Adiposa Congenita
mandibuloacral dysplasia +
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
Nervous System Heredodegenerative Disorders +
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
nevoid basal cell carcinoma syndrome +
Nonimmune Chronic Idiopathic Neutropenia, Adult
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
parathyroid gland disease +
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
pituitary gland disease +
Polyendocrine-Polyneuropathy Syndrome
primary hypertrophic osteoarthropathy +
progressive familial intrahepatic cholestasis +
proprotein convertase 1/3 deficiency
Radius Absent Anogenital Anomalies
Retinohepatoendocrinologic Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Sacral Agenesis with Vertebral Anomalies
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHOX-related short stature
Shwachman-Diamond Syndrome 2
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
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
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