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achondroplasia + An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. (DO)
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
Bird Headed Dwarfism Montreal Type
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Bullous Dystrophy, Hereditary Macular Type
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cantu Sanchez-Corona Fragoso Syndrome
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-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 hypothyroidism +
Congenital Micromelic Dysplasia with Dislocation of Radius +
Czech Dysplasia, Metatarsal Type
De Sanctis-Cacchione syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyschondrosteosis and Nephritis
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Familial Dwarfism with Muscle Spasms
Familial Osteodysplasia, Anderson Type
Familial Synovial Chondromatosis with Dwarfism
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
GARG-MISHRA PROGEROID SYNDROME
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Hyperostosis Frontalis Interna
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
isolated growth hormone deficiency +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
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
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
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-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
microcephaly, short stature, and limb abnormalities
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
Mollica Pavone Antener Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
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
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
progressive pseudorheumatoid arthropathy of childhood
Proportionate Dwarfism with Hip Dislocation
Pseudodiastrophic Dysplasia
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Rommen Mueller Sybert Syndrome
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Seckel Like Syndrome Type Buebel
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
Short Stature Syndrome, Brussels Type
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia +
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 1
thanatophoric dysplasia +
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
Tryptophanuria with Dwarfism
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weill-Marchesani syndrome +
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
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