| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen... |
OMIM:619795 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:277440 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:264700 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Feeding difficulties in infancy, Kyphosis, Delayed skeletal maturation, Th... |
OMIM:234250 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... |
OMIM:610967 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ... |
ORPHA:289157 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... |
ORPHA:53 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Osteoporosis, Cone-sh... |
ORPHA:71267 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
| Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... |
ORPHA:93324 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ... |
OMIM:259440 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Protruding ear, Femoral bowing, Enuresis nocturna, Decreased body w... |
OMIM:614856 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Osteoporosis, Pseudohypop... |
OMIM:612462 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Bone pain, Abnormal form of the vertebral bodies, Hypocalcemia, Genu varum, ... |
ORPHA:93160 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... |
ORPHA:53697 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Elevated cir... |
OMIM:614727 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... |
ORPHA:89936 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin... |
OMIM:307800 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Short toe, Osteoporosis, ... |
OMIM:103580 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
| Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Osteoporosis, Pseudohypop... |
OMIM:612463 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Pancytopenia, Femur frac... |
OMIM:259700 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidis... |
ORPHA:2323 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia, Short s... |
ORPHA:281 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Abnormality of the dentition, Hyperlordosis,... |
ORPHA:557003 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... |
OMIM:610968 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Paten... |
ORPHA:166272 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormal shoulder morphology, Gastroesophag... |
ORPHA:10 |
| Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Proportionate short stature, Carious teeth, Delayed skeletal maturation, Small hand, ... |
OMIM:244460 |
| Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Gast... |
ORPHA:562 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Micrognathia, Metaphyseal chondrodysplasia, Knee flexion contracture, Nephrocalcinosi... |
OMIM:156400 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Carious t... |
OMIM:203550 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Bone pain, Growth delay, Iron defic... |
ORPHA:89937 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Vomiting, Hypocalcemia, Ataxia, Short stature, Abdominal pain, Osteoporos... |
OMIM:212750 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypocalcemia, Short palm, Mi... |
OMIM:241410 |
| Pseudohypoparathyroidism Type 1C |
|
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1B |
|
Abdominal symptom, Delayed eruption of teeth, Increased bone mineral density, Calcinosis, Short s... |
ORPHA:94089 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduce... |
OMIM:166220 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tet... |
ORPHA:289176 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Moderate albuminuria, Sensorineural ... |
OMIM:619269 |
| Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79443 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
| 48,Xyyy Syndrome |
|
Short neck, Thick lower lip vermilion, Irregularly spaced teeth, Feeding difficulties, Azoospermi... |
ORPHA:99329 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
| Qazi-Markouizos Syndrome |
|
Dysharmonic bone age, Tapered finger, Cryptorchidism, Abdominal distention, High, narrow palate, ... |
ORPHA:3010 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Microdo... |
OMIM:259775 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Thin long bone diaphyses, Short stature, Kyphoscoliosis, Recurrent f... |
OMIM:616507 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Intestinal perforation, Chronic kidney disease, Abnormality of the ... |
ORPHA:314652 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Ataxia, Inability to walk, Feeding difficulties, Gait ataxia, High palate, Enamel hypoplasia, Ret... |
OMIM:617915 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Mulibrey Nanism |
|
Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal si... |
OMIM:253250 |
| Ck Syndrome |
|
Dental crowding, Posteriorly rotated ears, Micrognathia, Hyperlordosis, Kyphosis, Retrognathia, A... |
OMIM:300831 |
| Mucopolysaccharidosis Type 4 |
|
Short neck, Reduced bone mineral density, Hernia, Short stature, Abnormal dental enamel morpholog... |
ORPHA:582 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:819 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral ... |
OMIM:241530 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hype... |
ORPHA:3416 |
| Achondrogenesis Type 1A |
|
Short palm, Severe short stature, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, ... |
ORPHA:93299 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, Clinodactyly of the 5th finger, Short stature, Cry... |
ORPHA:3409 |
| Hypophosphatasia, Infantile |
|
Anorexia, Bowing of the legs, Micromelia, Nephrocalcinosis, Vomiting, Unossified vertebral bodies... |
OMIM:241500 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia, Pal... |
OMIM:226650 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal... |
OMIM:210600 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd ... |
OMIM:156510 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, External genital hypoplasia, Micrognathia, Feeding difficulties in i... |
ORPHA:251028 |
| Trisomy 4P |
|
Smooth philtrum, Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Short s... |
ORPHA:1738 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Abnormality of the dentition, Rickets, Bone pain, Renal phosphate wa... |
OMIM:193100 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... |
OMIM:617052 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Ataxia, Scarring, Delayed eruption of primary teeth, Hearing impairment, F... |
ORPHA:90322 |
| Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Short stature, Micrognathia, Cryptorchidism, Delayed skele... |
OMIM:613823 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Gastroesophageal reflux, Short philtrum, Widely spaced teeth, Microdontia, C... |
OMIM:619293 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Mandibular prognathia, High-frequency sensorineural hearing impairment, Recurrent fra... |
ORPHA:2324 |
| Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Feeding... |
ORPHA:534 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Malabsorption, Splenomegaly, Delayed skeletal maturation, Reduced bone mineral den... |
ORPHA:172 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Clitoral hypertrophy, Overfolding of the superior helices, Extramedullar... |
ORPHA:313855 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormality of the cervical spine, Abnormality of the temporomandibular joint, Abnorm... |
ORPHA:73 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Brachydactyly, Abnormal pinna morphology, Poster... |
OMIM:617475 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Gastroesophageal reflux, C... |
ORPHA:96263 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... |
ORPHA:3019 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Delayed skeletal maturation, Downturned corners of mouth, Abnormal epiphysi... |
ORPHA:2643 |
| Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract... |
OMIM:146300 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Ataxia, Sclerotic vertebral body, Kyphosis, Increased skull ossificat... |
OMIM:618476 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Microdontia, Short phala... |
ORPHA:221008 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Dementia, Ataxia, Amelogenesis imperfecta |
OMIM:226750 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Hyperhidrosis,... |
ORPHA:79406 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Nail-Patella Syndrome |
|
Back pain, Impaired temperature sensation, Abnormal tibia morphology, Flexion contracture, Abnorm... |
ORPHA:2614 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hypothyroidism, Hyperplasia of the ... |
ORPHA:231226 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Hypopar... |
OMIM:611174 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Short ... |
ORPHA:73272 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Hydroxyprolinuria, Conductive hearing impairment... |
OMIM:174810 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Hypocalcemia, Hypophosphatemia, ... |
OMIM:619073 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Fatigable we... |
ORPHA:2325 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporo... |
OMIM:136300 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Reduc... |
ORPHA:2909 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Dental crowding, Joint hypermobility, Oral-pharyngeal dysphagia, Postnatal growth re... |
OMIM:619184 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Severe short stature, Recurrent fractures, Carious teeth, O... |
OMIM:126550 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Enamel hypoplasi... |
ORPHA:79402 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Cachexia, Micrognathia, Tapered finger, Short neck, Abnormal a... |
ORPHA:1438 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... |
ORPHA:1830 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Gastroesophageal reflux, C... |
ORPHA:96264 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome... |
ORPHA:1299 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars... |
ORPHA:79405 |
| Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short stature, Large for gestational age, Short nec... |
ORPHA:2563 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Sensorineural heari... |
ORPHA:3152 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, High palate, Neutropenia, Microdontia... |
ORPHA:221016 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Protruding ear, Reduced bone mineral density, Tibial bowing, Iron deficien... |
ORPHA:93315 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Widely spaced primary teeth, Hypoplas... |
ORPHA:90321 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300554 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hypothyroidism, Hyperplasia of the maxilla, Hypop... |
ORPHA:231214 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Recurrent fractures, Hi... |
OMIM:147060 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Snijders Blok-Campeau Syndrome |
|
Joint laxity, Broad-based gait, Inguinal hernia, Unsteady gait, Feeding difficulties, Taurodontia... |
OMIM:618205 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Sensorineural he... |
OMIM:608154 |
| 17Q11.2 Microduplication Syndrome |
|
Short stature, Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar fl... |
ORPHA:139474 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Abnormal pinna morphology, Short stature, Joint stiffness |
ORPHA:2871 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Hyperlordosis, Clinodactyly, Pierre-Robin... |
OMIM:619980 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Increased bone mineral density, Short s... |
OMIM:259720 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
| Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Gastroesophage... |
OMIM:600373 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs... |
ORPHA:88630 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Syndactyly, Hyperhidrosis, Enamel hypoplasia, Macrotia |
OMIM:613576 |
| Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Abnormal... |
ORPHA:436 |
| Melnick-Needles Syndrome |
|
Micrognathia, Vesicoureteral reflux, Anisospondyly, Short stature, Cone-shaped epiphyses of the p... |
ORPHA:2484 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Short statur... |
ORPHA:1133 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodie... |
ORPHA:2710 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h... |
OMIM:605594 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Ectopic kidney, High palate, Short philtrum, Thickened he... |
ORPHA:3063 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Hypoplastic ilia, Abdominal distention, Umbilical hernia, Stillbirth... |
OMIM:600972 |
| Hypophosphatasia, Childhood |
|
Waddling gait, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Short stature, Premat... |
OMIM:241510 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Short stature, Increased connective tissue, Carious teeth, Scarring alopecia ... |
OMIM:226670 |
| Scarf Syndrome |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Inguinal hernia, Craniosynostosis, Short neck, ... |
ORPHA:3134 |
| Cranioectodermal Dysplasia 4 |
|
Short stature, Joint hypermobility, Sagittal craniosynostosis, Stage 5 chronic kidney disease, Pr... |
OMIM:614378 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing of the legs,... |
OMIM:610682 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars... |
ORPHA:79411 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... |
ORPHA:950 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Scoliosis, Spondylolisthesis... |
OMIM:229200 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Stimmler Syndrome |
|
Ataxia, Abnormal dental enamel morphology, Short stature, Aminoaciduria, Microdontia, Intrauterin... |
ORPHA:3199 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Premature loss of teeth, Increased bone mineral density, Short stature, Ankylosis, Hy... |
OMIM:239000 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature,... |
OMIM:231070 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers... |
ORPHA:93325 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300009 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated ske... |
ORPHA:561 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Bone pain, Gait disturbance, Tongue fascicula... |
ORPHA:329475 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... |
ORPHA:2785 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
| Osteoglosphonic Dysplasia |
|
Inguinal hernia, Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis... |
ORPHA:2645 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima... |
ORPHA:667 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Coxa valga, Carious teeth, Delayed skeletal maturation, Genu va... |
OMIM:613312 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Hypothyroidis... |
ORPHA:391408 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Hypohidrosis |
OMIM:615328 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Postaxial polydactyly, Unilater... |
OMIM:614576 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Short stature, Cryptorchidism, Splenomegaly, Delayed sk... |
OMIM:618440 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Pyloric stenosis, Atrophic scars, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Progressive neurologic deterioration, Micrognathia, Flexion contracture, Abnormality of the ear, ... |
OMIM:214150 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Protruding ear, Tubulointerstitial nephritis, High palate, Widely spaced tee... |
OMIM:218330 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Beaking of vertebral bodies, C... |
ORPHA:137834 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Short stature, Recurrent fractures, Hearing impairment, Abnormality of ... |
ORPHA:2801 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2238 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Severe short stature, Abnormal intervertebral disk morphology,... |
ORPHA:2635 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Pain insensitivity, Membranoproliferative glomerulonephritis, Short stature, Hypercal... |
ORPHA:251004 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatem... |
ORPHA:79445 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Recurrent fractures, Micrognathia, Short neck, ... |
ORPHA:1486 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Severe short stature, Lipoatrophy, Micrognathia, Open bite, Cr... |
ORPHA:2617 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Micrognat... |
OMIM:617913 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Hypohidrosis |
ORPHA:363523 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Micrognathia, Feeding difficulties in ... |
ORPHA:576283 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Short philtrum, Hypocalcemia, Short tibia, Lethargy, Micropenis, Hypospadias, Rhiz... |
OMIM:607143 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Hyperhidrosis, Periodontitis, Intrauterine... |
ORPHA:1775 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational... |
OMIM:616229 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Gastroesophageal reflux, Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Ata... |
OMIM:619229 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Os... |
ORPHA:2078 |
| Sjogren-Larsson Syndrome |
|
Thoracic kyphosis, Enamel hypoplasia, Flexion contracture, Short stature |
OMIM:270200 |
| Aarskog-Scott Syndrome |
|
Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finge... |
ORPHA:915 |
| Grant Syndrome |
|
Bowing of the long bones, Short stature, Micrognathia, Open bite, Decreased skull ossification, J... |
ORPHA:2097 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contracture, Large fle... |
OMIM:616897 |
| Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Reduced bone mineral density, Scoliosis, Hypophosphatemia, Ment... |
ORPHA:2611 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Short stature, Osteomyelitis, Malabsorption, Thrombocytopenia, Sensorineural hearing i... |
ORPHA:47 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short ... |
ORPHA:79106 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Congenital diaphragmat... |
OMIM:166300 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hyperphosphaturia, Short stature, Osteomalacia, Bowing of the legs, Increased circ... |
ORPHA:157215 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Severe short stature, Inguinal hernia, Hyperlordosis, ... |
OMIM:184250 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
| Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Abdominal pain, Malabsorption, Microcytic ... |
ORPHA:398063 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Micromelia, Short neck, Short palm, Abnormal dental morphology, Osteomalacia, Chronic... |
ORPHA:2176 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Neonatal death, Hypothyroidism... |
OMIM:608104 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Short neck, Feeding difficulties in infancy, Knee flexion... |
OMIM:193700 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, High palate, Conductive... |
OMIM:102500 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Delayed skeletal maturation, Hip osteoarthritis, Joint ... |
ORPHA:63442 |
| Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Hyperphosphaturia, Short stature, Recurrent fractures, K... |
OMIM:163200 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, Short neck, High palate, Abnormality of the uterus, Protein-losing enteropathy, Abn... |
ORPHA:1655 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Short distal ... |
ORPHA:2776 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Oli... |
OMIM:601216 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... |
OMIM:259730 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation |
OMIM:600252 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Short neck, High palate, Protein-losing enteropathy, Hypocalcemia, Micropenis, Cryp... |
OMIM:235255 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Carious teeth, Kyphosis, Joint stiffness, Bone cyst, P... |
ORPHA:2047 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Ohdo Syndrome |
|
Joint laxity, Small scrotum, Short stature, Proteinuria, Hearing impairment, Micrognathia, Feedin... |
OMIM:249620 |
| Parathyroid Carcinoma |
|
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Pancreatic adenocarcino... |
ORPHA:143 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period... |
ORPHA:79259 |
| Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Short fourth metatars... |
OMIM:615546 |
| Hypotonia-Cystinuria Syndrome |
|
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... |
OMIM:606407 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-s... |
OMIM:190350 |
| Hall-Riggs Syndrome |
|
Nausea and vomiting, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology,... |
ORPHA:2107 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ... |
ORPHA:79409 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... |
ORPHA:2863 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Broad-based gait, Congenital hip dislocatio... |
OMIM:614450 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Diastema, Cryptorchi... |
OMIM:619718 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Short philtru... |
ORPHA:2136 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Hyperhidrosis,... |
OMIM:601559 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skull ossification, Sle... |
OMIM:602361 |
| Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Malabsorption, Rickets, Renal tubular dysfunctio... |
ORPHA:213 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Inability to walk, Broad-based gait, Recurrent fractures |
OMIM:619884 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Posteriorly rotated ears, Short neck, Cryptorchidism, Abnormal fo... |
OMIM:312830 |
| Autoimmune Hypoparathyroidism |
|
Abdominal symptom, Calcium nephrolithiasis, Increased bone mineral density, Confusion, Autoimmune... |
ORPHA:36913 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... |
OMIM:242900 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Pancreatic adenocarcino... |
ORPHA:99880 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Gingival fibromatosis, Gingival ... |
ORPHA:2026 |
| Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Micrognathia, Short st... |
ORPHA:808 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
| Camurati-Engelmann Disease |
|
Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis... |
ORPHA:1328 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... |
OMIM:215140 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Cachexia, Malabsorption, Diarrhea, Hypomagnesemia, Xerostomia, Clubbing... |
OMIM:175500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... |
OMIM:309583 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... |
OMIM:269300 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Micrognathia, Feeding difficulties in infancy, Unilateral ... |
ORPHA:476126 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... |
OMIM:617952 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed... |
ORPHA:50814 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Short neck, Hypoplasia of the thymus, Abnormality ... |
ORPHA:567 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:739 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flexion contracture of finger, Small for gestational age, Fatiguable weakness of proximal limb mu... |
ORPHA:319332 |
| Proteus Syndrome |
|
Thin bony cortex, Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, M... |
OMIM:176920 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... |
OMIM:272460 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Micrognathia, Microcytic anemia, Protruding ear, Micro... |
ORPHA:293967 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab... |
OMIM:144750 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Microtia, Gait disturbance, ... |
OMIM:618761 |
| Coffin-Lowry Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies... |
ORPHA:192 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Feeding difficulties in infancy, Metaphyseal widening, Flexion contractur... |
ORPHA:3206 |
| Schneckenbecken Dysplasia |
|
Short neck, Snail-like ilia, Dumbbell-shaped long bone, Advanced tarsal ossification, Flat acetab... |
OMIM:269250 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
| Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, High, narrow palate, Gait ataxia, Protruding ear, Thorac... |
ORPHA:33364 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Abdominal symptom, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyp... |
ORPHA:99879 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Delayed epiphys... |
ORPHA:226313 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Chronic otitis... |
ORPHA:61 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rot... |
ORPHA:2886 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Short stature, Proteinuria, Abdominal distention, Hyperlipidemia, Osteoporosis, Growt... |
ORPHA:369 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
| Cohen Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Feeding ... |
OMIM:216550 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Esophageal stricture, Sensorineural hearing impairment,... |
OMIM:616029 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint contracture, Joint laxity, Short stature, Increased susceptibility to fractures... |
OMIM:615349 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Progressive ... |
OMIM:252500 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... |
ORPHA:2658 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... |
ORPHA:536471 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Long philtrum, Sho... |
OMIM:258480 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Usher Syndrome Type 1 |
|
Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor... |
ORPHA:231169 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Anhidrosis, Flexion contracture of finger, Abnormal dental morphology, Interphalangeal joint cont... |
ORPHA:69087 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Vertebral segmentatio... |
OMIM:608022 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Dental crowding, Short metatarsal, Protruding ear, Short palm, Short phalanx of finge... |
OMIM:190351 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology, Sensorineural hearing impairment |
ORPHA:3225 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short distal ... |
ORPHA:420561 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atypical scarr... |
ORPHA:79410 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Feeding difficultie... |
OMIM:180849 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Brachydactyly, Dental crowding, Ataxia, Kyphoscoliosis, Inability to w... |
OMIM:616354 |
| Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short neck, Delayed skeletal maturation, Thick lowe... |
OMIM:157980 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, C... |
ORPHA:2616 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... |
ORPHA:231222 |
| Campomelic Dysplasia |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi... |
ORPHA:140 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Gastroesophageal reflux, Bifid uvula, Joint laxity, Short stature, Crypt... |
OMIM:607812 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Micrognathia, Short toe, Os... |
ORPHA:633 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, ... |
ORPHA:52430 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition |
ORPHA:2222 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Short stature, Abnormal dental enamel morphology, External genital hypoplasia, Abnormality of the... |
ORPHA:3220 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Malnutrition, Fl... |
OMIM:226600 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien... |
ORPHA:79408 |
| Cerebellofaciodental Syndrome |
|
Short stature, Tapered finger, Short neck, Cryptorchidism, Delayed skeletal maturation, Dental ma... |
OMIM:616202 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Hearing abnormality, P... |
ORPHA:3270 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality... |
ORPHA:2314 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Accelerated skeletal maturation, Neonatal short-limb short stature, Distal shorteni... |
ORPHA:50945 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever... |
ORPHA:289548 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, F... |
OMIM:615883 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Abnormal carpal... |
ORPHA:85166 |
| Pseudohypoaldosteronism Type 2 |
|
Nausea and vomiting, Short stature, Abnormal dental enamel morphology, Abnormality of the dentiti... |
ORPHA:757 |
| Pycnodysostosis |
|
Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Persistence of ... |
OMIM:265800 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Short phi... |
ORPHA:3258 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing impairment, Spina bifida ... |
ORPHA:2780 |
| Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Bone cyst, Memory impairment, Dementia, Gait disturbance, Pathologic fracture |
OMIM:618193 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Decreased body weight, Short stature, Wide anterior fontanel, Paten... |
OMIM:614886 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... |
OMIM:600002 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... |
ORPHA:949 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Dental crowding, Lipoatrophy,... |
ORPHA:2457 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Severe short stature, Proteinuria, Cachexia... |
OMIM:610965 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Esophageal atresia, Congenital ... |
OMIM:226730 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Short stature, Bilateral cleft lip and palate, High palate... |
OMIM:618874 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo... |
ORPHA:955 |
| Coffin-Siris Syndrome 2 |
|
High palate, Short philtrum, Short stature, Cryptorchidism, Delayed skeletal maturation, Thick ve... |
OMIM:614607 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of... |
OMIM:618107 |
| Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
| Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Flexion contracture, Abnormal form of the vertebral bodies,... |
ORPHA:581 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Hepatic failure, Enamel hypoplasia |
ORPHA:3196 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Macrotia, Short neck, Obesity, Narrow palate, Hypopla... |
OMIM:620250 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Microtia, Short... |
OMIM:141300 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Abnormality of the dentition, Short neck, Macrotia, Feeding difficulties, Wide mou... |
OMIM:615802 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Small scrotum, Reduced bone mineral density, Vomiting, Gastroesophageal reflux, High ... |
OMIM:613658 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Waddling gait, Crumpled long bones, Joint laxity, Short stature, Isosexual precocious... |
ORPHA:2788 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Abdominal distenti... |
ORPHA:2088 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ... |
OMIM:305400 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
| Hurler Syndrome |
|
Progressive neurologic deterioration, Short neck, Metaphyseal widening, Flexion contracture, Hern... |
OMIM:607014 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Decreased body weight, Dental crowding, Short stature, Persistence of prima... |
OMIM:618342 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormal sacrum morphology, Bone... |
ORPHA:2591 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abn... |
ORPHA:2180 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... |
ORPHA:289494 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... |
OMIM:305620 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Feeding... |
OMIM:620193 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Micrognathia, Bilateral cryptorchidis... |
ORPHA:2409 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Downturned corner... |
ORPHA:1327 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta |
OMIM:234580 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Accelerated skeletal matur... |
OMIM:245600 |
| Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Short stature, Central diaphragmatic hernia, Delayed skeletal matu... |
OMIM:614608 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Joint contracture, Delayed sk... |
OMIM:601812 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Postnatal gro... |
OMIM:612199 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... |
ORPHA:2050 |
| Rin2 Syndrome |
|
Irregular dentition, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchid... |
ORPHA:217335 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... |
ORPHA:199306 |
| Cog7-Cdg |
|
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... |
ORPHA:79333 |
| Kallmann Syndrome |
|
Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Ata... |
ORPHA:478 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Inguinal hernia, Foot joint contra... |
ORPHA:444072 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Severe short stature, Abnorm... |
ORPHA:1005 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Feeding difficulties in infancy, Short neck, Glosso... |
OMIM:611209 |
| Meier-Gorlin Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Flat glenoid fossa, Fle... |
OMIM:224690 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, Hypoplastic cervical verte... |
ORPHA:79345 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
| Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Short neck, Downturne... |
OMIM:300882 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:776 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Cockayne Syndrome |
|
Urinary incontinence, Feeding difficulties in infancy, Progressive gait ataxia, Congenital contra... |
ORPHA:191 |
| Fanconi-Bickel Syndrome |
|
Poor appetite, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunction, Hypokalemia, Hyp... |
OMIM:227810 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... |
ORPHA:2751 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Proteinuria, R... |
OMIM:613388 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, Short ... |
OMIM:257850 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Growth delay, Atrophic s... |
ORPHA:79396 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... |
ORPHA:2027 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Feeding difficulties in infancy, High, narrow palate, Protruding ear, Verte... |
ORPHA:96169 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hypohidrosis, Deme... |
ORPHA:1946 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... |
OMIM:618727 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Flared metaphysis, Delaye... |
OMIM:218400 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Malabsorption, Abdominal distent... |
OMIM:613662 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Waddling gait, Increased bone mineral density, Reduced subcutaneous adipos... |
OMIM:131300 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Delayed skeletal matura... |
OMIM:612714 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Sho... |
OMIM:619879 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Metaphyseal widening,... |
OMIM:271640 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Metaphyseal... |
OMIM:182212 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Sensorineural hearing impairment, Femoral bowing,... |
OMIM:615066 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Short stature, Lipoatrophy, Micrognathia, Limited elbow movem... |
OMIM:614008 |
| Stickler Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Osteoarthritis, Bone pa... |
ORPHA:828 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism... |
ORPHA:85279 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Decre... |
ORPHA:93950 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl... |
ORPHA:861 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... |
ORPHA:2410 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Precocious puberty, Postnatal growth retardation, Small hand, Obesity, Feeding diff... |
ORPHA:254531 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Short stature, Elevated circulating growth hormone concentratio... |
OMIM:608747 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Micrognathia, Proximal placement of th... |
OMIM:270400 |
| Craniofacioskeletal Syndrome |
|
Micrognathia, Short philtrum, Hypocalcemia, Short palm, Clinodactyly of the 5th finger, Absent ga... |
OMIM:300712 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... |
ORPHA:2750 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Tapered finger, Feeding difficult... |
OMIM:618825 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, Nasogastric tube feeding in infancy, High, ... |
ORPHA:369837 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fract... |
ORPHA:453510 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Os... |
ORPHA:90354 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
| Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Short h... |
ORPHA:2662 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Underfolded helix, Abnormal pinna morphology, Craniosynostosis, Abnormality of... |
ORPHA:178303 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retarda... |
ORPHA:79303 |
| Costello Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal dental enamel morpholog... |
ORPHA:3071 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Hig... |
ORPHA:481152 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:272300 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Finger s... |
ORPHA:2092 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Protruding tongue, Coxa valga, Splenomegaly, Patent ductus arteriosus, Thoracolumbar kyph... |
OMIM:230600 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, Fatigable weakne... |
ORPHA:166108 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Down-sloping shoulders, Carious teeth, Joint hyperflexibility,... |
ORPHA:1390 |
| Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipati... |
ORPHA:95713 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa... |
ORPHA:2959 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Increased bone m... |
ORPHA:77259 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Short attention span, Micrognathia, Hyperlordosis, Hypophosphaturia, De... |
ORPHA:73223 |
| Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Ambiguous genitalia, male, Conductive hearing im... |
OMIM:607330 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, High palate, Short philtrum, Bifid uvula, Short stature, Precocious puberty, Crypto... |
ORPHA:96184 |
| Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia |
OMIM:146350 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Reduced circulating prolactin concentration, Abnorm... |
ORPHA:2235 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture... |
OMIM:312150 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,... |
OMIM:235510 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Intestinal obstruction, ... |
OMIM:243150 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst... |
ORPHA:79404 |
| Muenke Syndrome |
|
Brachydactyly, Broad hallux, Capitate-hamate fusion, Sensorineural hearing impairment, Clinodacty... |
OMIM:602849 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Wide anterior fonta... |
OMIM:619736 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... |
OMIM:108720 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation, Cutaneous syndactyly, Finger cl... |
OMIM:272440 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Akinesia, Micrognathia, Flexion contracture, Cleft... |
OMIM:253290 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral ... |
ORPHA:2512 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Increased circulating NT-proBNP concentration, ... |
ORPHA:85443 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Bifid uvula, Disl... |
OMIM:130070 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... |
ORPHA:1307 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Posteriorly rotated ears, Rocker bottom foot, Feeding difficulties, Wide... |
OMIM:618506 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Posteriorly rotated ears, Intestinal malrotation, Broad hallux, Micrognathia, Carious... |
OMIM:613684 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Thoracolumbar kyphosis, Chorea, Bila... |
OMIM:619777 |
| Cohen Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, High, narrow palate, Sh... |
ORPHA:193 |
| Timothy Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Cutaneous syndactyly, Hypocalcemia, Microdont... |
OMIM:601005 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Thoracolumbar kyphosis, Accelerated skeletal maturation, Flexion contracture, Widely ... |
OMIM:253220 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Joint hypermobility, Craniosynostosis, Cleft upper lip... |
OMIM:265050 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Short stature, Decreased fertility, ... |
ORPHA:1816 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... |
ORPHA:90653 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Sma... |
ORPHA:298 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, Growth delay, H... |
ORPHA:100025 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
| Gapo Syndrome |
|
Mandibular prognathia, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, Decreas... |
ORPHA:2067 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermili... |
OMIM:300602 |
| Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Poor app... |
ORPHA:3163 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Mal... |
OMIM:240300 |
| 2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypoc... |
ORPHA:163693 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Ataxia, Short stature, M... |
ORPHA:314679 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Large for gestational age, Micrognathia, Kyphosis, Wide anterior ... |
OMIM:618272 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Micrognathia, Postnatal growth retardation, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:2306 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the auditory canal, Salivary gland neoplasm, Abnormality of the sublingual glands,... |
ORPHA:79493 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Ataxia, Choreoathetosis, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Cl... |
ORPHA:2554 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusio... |
ORPHA:36234 |
| Incontinentia Pigmenti |
|
Abnormal hand morphology, Orofacial cleft, Hyperhidrosis, Spina bifida occulta, Finger syndactyly... |
ORPHA:464 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasi... |
ORPHA:2728 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Short neck, Abnorma... |
ORPHA:884 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Micrognathia, Increased vertebral height, Gait ataxia, Downturned corners of mouth, Oligodontia, ... |
OMIM:616817 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty... |
ORPHA:794 |
| Oculofaciocardiodental Syndrome |
|
Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ... |
ORPHA:2712 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp... |
ORPHA:699 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the e... |
ORPHA:457395 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... |
ORPHA:83468 |
| Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, De... |
OMIM:619445 |
| Meier-Gorlin Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroeso... |
OMIM:613803 |
| Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoacidu... |
OMIM:219800 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... |
ORPHA:96170 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... |
OMIM:179800 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Short stature, Splenomegaly, Red urine, Osteolysis, ... |
OMIM:263700 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Short stature, Poor appetite, Micrognathia, ... |
OMIM:619322 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... |
ORPHA:3236 |
| Mccune-Albright Syndrome |
|
Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated c... |
OMIM:174800 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Ost... |
OMIM:212720 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Rec... |
ORPHA:83 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Short neck, Abdominal distention, Cleft palate, Polydactyly, Talipes equinovarus... |
OMIM:613885 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Waddling gait, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion c... |
ORPHA:263463 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Cryptorchidism, Secretory diarrhea, F... |
OMIM:618183 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Parathyroid hyperplasia, Calvarial osteosclerosis, ... |
OMIM:617994 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Lumbar... |
OMIM:612921 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Anal atresia, Abnormal dental morphology, Hypospadias, Abnormal dental enamel morphology, Microgn... |
ORPHA:85199 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
| Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
| Donohue Syndrome |
|
Precocious puberty, Abdominal distention, Postnatal growth retardation, Long penis, Thick lower l... |
OMIM:246200 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Proportionate short stature, Micrognathia, Abnormality of the d... |
ORPHA:2108 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... |
OMIM:607634 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Purple urine, Confusion, Ankle flexion contracture, Abdominal pain, Abnormal erythr... |
ORPHA:100924 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Short stature, Cryptorchidism, Velopharyngeal insufficiency,... |
OMIM:192430 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal dental morphology, Arachnodactyl... |
ORPHA:1716 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl... |
OMIM:246560 |
| Pili Torti |
|
Abnormal dental enamel morphology, Hearing impairment, Abnormality of the dentition |
ORPHA:2889 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad metacarpals, S... |
OMIM:608328 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, ... |
OMIM:612079 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
| Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Congenital hip dislocation, Ataxia, Postnatal growth retardation, Inability to w... |
ORPHA:357058 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Short s... |
ORPHA:2962 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... |
ORPHA:2462 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
ORPHA:94065 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Syndactyly, Sh... |
OMIM:614701 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorc... |
ORPHA:2772 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Broad finger, Supernumerary maxillary inci... |
OMIM:302350 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Neutropenia, En... |
OMIM:615285 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Abnormality of the dentition, Calcium oxalate nephr... |
ORPHA:416 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Short stature, Proximal placement of thumb, Micrognathia, Postnatal gro... |
OMIM:300590 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Short stature, Carious teeth, Cryptorchidism, Short palm, Intrauterine growth retard... |
OMIM:101805 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Glycosuria, Aminoaciduria, Hypophosphat... |
OMIM:618913 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Accelerated skeletal maturation... |
OMIM:614753 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina... |
ORPHA:2924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Chronic constipation, High palate, Sc... |
OMIM:300676 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Gastr... |
OMIM:609029 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerar... |
ORPHA:1812 |
| Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Femor... |
OMIM:609220 |
| Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Dysphagia, Difficulty walk... |
ORPHA:171433 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Ataxia, Abnormal dental enamel morphology, Carious teeth, Sensorineu... |
ORPHA:231178 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Bone pain, R... |
OMIM:612089 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... |
ORPHA:3214 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Posta... |
OMIM:136760 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:213980 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Failure to thrive, Hypospadias, Short stature, Ab... |
ORPHA:2315 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
| Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin... |
OMIM:218340 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Proteinuria, Cachexia, Malabsorption, Congenital h... |
ORPHA:77297 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly... |
OMIM:614099 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Peptic ulcer, Osteomalacia, Parathormone-independent increase... |
OMIM:600740 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Brachydactyly, Abnormal intervertebral disk morphology, Short ... |
ORPHA:2701 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, External genital hypoplasia, Elevated circulating creatine ... |
ORPHA:329178 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Poor appetite, Elevated circulating C-reactive protein concentration, Abnormal sac... |
ORPHA:324964 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... |
ORPHA:3079 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Feeding difficulties... |
OMIM:239200 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont... |
OMIM:277300 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of t... |
ORPHA:2215 |
| Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Progressive neurologic deterioration, Flexion contracture, Gas... |
ORPHA:90324 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
| Thyroid Hemiagenesis |
|
Abdominal distention, Growth delay, Macroglossia, Constipation, Umbilical hernia |
ORPHA:95719 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Gastroesophageal reflux, Small earlobe, Micropenis, Shor... |
OMIM:613805 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Kyphoscoliosis, Inability to walk, Flexion contracture, Feeding diffic... |
OMIM:617105 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyp... |
ORPHA:970 |
| Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Coxa valga, Midgut malrotation, Xerostomia, 2-3 to... |
OMIM:619080 |
| H Syndrome |
|
Microcytic anemia, Hernia, Micropenis, Short stature, Cleft upper lip, Delayed skeletal maturatio... |
ORPHA:168569 |
| 20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened... |
ORPHA:261295 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Inguinal hernia, Hearing abnormality, P... |
ORPHA:2412 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
OMIM:176270 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... |
OMIM:305600 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormality of the tongue, Weight loss, Increased susceptibility to fractures,... |
ORPHA:216866 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple suture craniosynos... |
ORPHA:207 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Short philtrum, Hypocalcemia, Micropenis, Long toe, Abse... |
ORPHA:163979 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Congenital hip dislocation, Micrognathia, Short neck, 2-3 toe cutaneous syndactyly... |
OMIM:609625 |
| Rubinstein-Taybi Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High palate, Clinodactyly of the 5th finger, Finge... |
ORPHA:783 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... |
ORPHA:2741 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High palate, ... |
OMIM:249420 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, P... |
ORPHA:79113 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Short stature, Intestinal malrotation, Abnormality of cartilage of external e... |
ORPHA:3426 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp... |
OMIM:273750 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Bone cyst, Frontal lobe dementia, Memory impairment, Dementia, Gait disturb... |
OMIM:221770 |
| Williams Syndrome |
|
Osteopenia, Dysmetria, Protruding ear, Abnormal form of the vertebral bodies, Nephrocalcinosis, M... |
ORPHA:904 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ... |
ORPHA:2204 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Short stature, Lipodystrophy, Splenome... |
OMIM:612526 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylos... |
ORPHA:659 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Small for gestational age, Posteriorly rotated ears, Micrognathia, Broad hallux, Cry... |
OMIM:614541 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hyponatremia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:620157 |
| Atelis Syndrome 1 |
|
Glue ear, Carious teeth, Thrombocytopenia, Feeding difficulties, Lumbar kyphosis, Leukopenia, Mic... |
OMIM:620184 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ant... |
ORPHA:952 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Kyphoscoliosis, Micrognathia, Feeding difficulties in infancy, Carious teeth, Trismus... |
OMIM:272430 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Micrognathia, Hyp... |
ORPHA:96334 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu... |
OMIM:101200 |
| Niemann-Pick Disease, Type A |
|
Short stature, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Inabil... |
OMIM:257200 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Cryptorchidism, Feeding dif... |
OMIM:615419 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Short stature, Proteinuria, Large for gestational age, Rickets, ... |
OMIM:616026 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Gastroesophageal... |
OMIM:300373 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Posteriorly rotated ears, Short stature, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:615502 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Anterior beaking of lumbar vertebrae, Chronic otitis media, Abnormal verte... |
ORPHA:93 |
| Infantile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, ... |
ORPHA:411629 |
| Char Syndrome |
|
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue... |
OMIM:269860 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Short stature, Hypoplasia of the maxilla, Metatarsus add... |
ORPHA:293939 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Pr... |
OMIM:620370 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemiverteb... |
OMIM:619345 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Inability to walk, Long fingers, Flexion contracture, ... |
OMIM:218000 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... |
OMIM:619658 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Enuresis nocturna, Hypoplasia of ... |
ORPHA:251061 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Short stature, Thorac... |
OMIM:212066 |
| Sotos Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Increased body weigh... |
OMIM:117550 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi... |
ORPHA:199299 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Feeding difficultie... |
ORPHA:800 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met... |
ORPHA:1540 |
| Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeletal maturati... |
OMIM:613804 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Sensorineural hearing impai... |
ORPHA:2668 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Chronic pancre... |
OMIM:307030 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Ab... |
ORPHA:3145 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Micrognathia, Precocious puberty, Feeding difficulties in infa... |
ORPHA:254525 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiting, Protei... |
OMIM:619991 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Decr... |
ORPHA:93945 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Ataxia, Short stature, Impaired distal ... |
ORPHA:447896 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural hearing impairment, Ulnar devia... |
ORPHA:1529 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Genitopatellar Syndrome |
|
Small scrotum, Micrognathia, Knee flexion contracture, Gastroesophageal reflux, Short palm, Multi... |
ORPHA:85201 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... |
ORPHA:181 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Bone pain, Neutropenia, Abdominal pain, Leukocytosis, Osteoporosis, Hepatosplenomegaly,... |
ORPHA:98850 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Thoracic scoliosis, Recurrent fractures, Feeding difficulties in infancy, Sensorineural hearing i... |
OMIM:606056 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial ... |
ORPHA:37042 |
| Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Shuffling gait, Urinary bladder... |
OMIM:300266 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Short attention span, Somatic sensory dysfunction, Abnormality of the vertebral spino... |
ORPHA:909 |
| Immunodeficiency 9 |
|
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Difficulty walking, St... |
OMIM:612782 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abn... |
ORPHA:93262 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Crowded... |
ORPHA:2063 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
| Acrofacial Dysostosis, Catania Type |
|
Feeding difficulties in infancy, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta... |
ORPHA:1786 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... |
ORPHA:245 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Prominent interphalangea... |
OMIM:618371 |
| Kabuki Syndrome 2 |
|
Micrognathia, Feeding difficulties in infancy, Protruding ear, High palate, Prominent fingertip p... |
OMIM:300867 |
| Mycetoma |
|
Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Abnormal for... |
ORPHA:2583 |
| Heimler Syndrome 2 |
|
Sensorineural hearing impairment, Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Meckel diverticulum, Lymphopenia, Short stature, Bilateral cryptorchidism, Carious t... |
OMIM:616395 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Short stature, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia |
OMIM:601345 |
| Distal Renal Tubular Acidosis |
|
Poor appetite, Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Nephrocalcino... |
ORPHA:18 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... |
OMIM:612731 |
| Usher Syndrome |
|
Abnormal vestibular function, Abnormality of dental color, Ataxia, Abnormal dental enamel morphol... |
ORPHA:886 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... |
OMIM:618853 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Ataxia, Unsteady gait, Feeding difficulties, Downturned corners of mouth, Const... |
OMIM:617865 |
| Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Arach... |
ORPHA:2604 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, ... |
ORPHA:818 |
| Maffucci Syndrome |
|
Short stature, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary adenoma, Bone pa... |
ORPHA:163634 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Small for gestational age, Short stature, Elbow contractur... |
OMIM:616489 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Mult... |
OMIM:618644 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co... |
ORPHA:261494 |
| Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... |
ORPHA:1193 |
| Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Otitis media, Conductive hearing impairm... |
ORPHA:576 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Short stature, Proteinuria, Sagittal craniosynostosis, Micrognathia, Hematuria, Tubu... |
OMIM:616901 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed a... |
OMIM:619148 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Small scrotum, Short neck, Protruding ear, High palate, Hypocalcemia, Bifi... |
OMIM:620330 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, Gastroesopha... |
OMIM:188400 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, ... |
ORPHA:3238 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Short hallux, Tape... |
OMIM:608156 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Short s... |
ORPHA:2834 |
| Autosomal Dominant Hypocalcemia |
|
Abdominal pain, Hypercalciuria, Reduced bone mineral density, Fatigable weakness, Nephrocalcinosi... |
ORPHA:428 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Abnormality of body weig... |
ORPHA:2298 |
| Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... |
ORPHA:96148 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Finger syndactyly, Hydroureter, Abn... |
ORPHA:568 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Sagittal cran... |
OMIM:145420 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of ... |
OMIM:277600 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
| Williams-Beuren Syndrome |
|
Osteopenia, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Nephrocalcinos... |
OMIM:194050 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Small for gestational age, Protruding ear |
OMIM:618302 |
| Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Joint laxity, Delayed skeletal mat... |
OMIM:269880 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Downturned corners of mouth, Anteriorly placed anus, Hypocalcemia,... |
OMIM:243800 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Somatic sensory dysfunction, Back pain, Metrorrhag... |
ORPHA:370348 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Ataxia, Short stature, Hip... |
OMIM:614381 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Splenomegaly, Oligodontia, Bile duct proliferation, Hypodontia, Enamel hypoplasia, Hepatic failure |
OMIM:607626 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Sensorineural he... |
ORPHA:1883 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary... |
OMIM:603233 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
| Microphthalmia With Limb Anomalies |
|
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... |
OMIM:206920 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Dysphagia, Triangular shaped di... |
ORPHA:73230 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Pain insensitivity, Slender build, Short stature, Uplifted e... |
ORPHA:364028 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Precocious puberty, Delayed eruption of permanent teet... |
OMIM:619356 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Omphalocele, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... |
ORPHA:371428 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Smooth philtrum, Widely-spac... |
OMIM:618737 |
| Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp... |
ORPHA:1897 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone... |
ORPHA:652 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Brachydactyly, Hypospadias, Abn... |
OMIM:610253 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Abnormal dental enamel morphology, Splenomegaly, Scarring alopecia of scalp, Oligodontia, Hypodontia |
ORPHA:59303 |
| Silver-Russell Syndrome |
|
Dental crowding, Micrognathia, Hyperhidrosis, Downturned corners of mouth, Abnormal appendicular ... |
ORPHA:813 |
| Wiedemann-Steiner Syndrome |
|
Micrognathia, Accelerated skeletal maturation, High palate, Clinodactyly of the 5th finger, Short... |
OMIM:605130 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... |
OMIM:234100 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Ataxia, Spontaneous hemolytic crises, Abdominal pa... |
ORPHA:822 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Irregular menstruation, Dental malocclusio... |
OMIM:269500 |
| Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Small for gestational age, Short stature, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:614261 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Abdominal distention, Renal cyst, Increased total bilirubin |
OMIM:174050 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Precocious puberty, Cryptorchidism, High, narrow palate, Macrotia, Abnormality of d... |
ORPHA:96092 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Bicarbonaturia, Reduced bone mineral density, Nephrocalcinosis... |
ORPHA:47159 |
| Menkes Disease |
|
Micrognathia, Feeding difficulties in infancy, Chorea, Hernia, Osteoporosis, Joint hyperflexibili... |
ORPHA:565 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth, Hypohidrosis |
OMIM:161000 |
| Spondyloocular Syndrome |
|
Osteopenia, Long toe, Unilateral cryptorchidism, Duodenal ulcer, Posteriorly rotated ears, Abnorm... |
OMIM:605822 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Pro... |
OMIM:261540 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... |
OMIM:182250 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wide distal femoral ... |
OMIM:613320 |
| Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation... |
ORPHA:64 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus,... |
ORPHA:2095 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Micrognathia, Feeding difficulties in infancy, Cutaneous finger syndactyly, Short ... |
OMIM:613026 |
| Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Cry... |
OMIM:619135 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Feeding difficulties in infanc... |
ORPHA:355 |
| Juvenile Nephropathic Cystinosis |
|
Poor appetite, Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hy... |
ORPHA:411634 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Overlapping toe, Short stature, Carious teeth, Delayed skeletal maturation, Thick lower lip vermi... |
ORPHA:457365 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Hypotrigl... |
ORPHA:404454 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... |
OMIM:601957 |
| Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abdominal pain, Malabsorption, Abnormal sacroiliac joint morp... |
ORPHA:793 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu var... |
OMIM:615777 |
| Dubowitz Syndrome |
|
Aplastic anemia, Micrognathia, Feeding difficulties in infancy, Protruding ear, Gastroesophageal ... |
OMIM:223370 |
| Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Chronic diarrhea, Functional abnormality of the gastrointestinal tract, Weight lo... |
ORPHA:90362 |
| Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig... |
OMIM:123500 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Congenital diaphragma... |
OMIM:122470 |
| Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudar... |
ORPHA:2044 |
| Pitt-Hopkins Syndrome |
|
Short neck, Short metatarsal, Gait ataxia, Finger clinodactyly, Gastroesophageal reflux, Short ph... |
ORPHA:2896 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Anteverted ears, Downturned corners of mouth, Ga... |
OMIM:616268 |
| Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Short neck, Flexion contracture, Widely spaced teeth, Short statur... |
OMIM:309900 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Malar f... |
OMIM:241310 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Feeding difficulties, ... |
OMIM:619638 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... |
OMIM:166210 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Urethral stricture, Oral mucosal blisters, Abdominal distention, Urinary bla... |
ORPHA:79403 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Growth delay,... |
OMIM:611490 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Dyspareunia, Renal insufficiency, Malabsorption, Carious teeth, Flexion cont... |
ORPHA:220393 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Abdominal distention, Chorea, Sensorineural hearing impairment, Difficu... |
ORPHA:79097 |
| Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Short stature, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Oral... |
OMIM:232220 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Arachnodactyly, Short sta... |
OMIM:612513 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Hypospadias, Short stature, Craniosynostosis, Micrognathia... |
ORPHA:96097 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Avascu... |
OMIM:253200 |
| Caffey Disease |
|
Feeding difficulties in infancy, Periosteal thickening of long tubular bones, Cortical thickening... |
ORPHA:1310 |
| Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Bowing of the legs, Chorea, Hypothyroidism... |
ORPHA:1855 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Ora... |
ORPHA:93552 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Splenomegaly, Bone cyst, Enlarged lacrimal glands, Clubbing, Hypercalciur... |
OMIM:181000 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical ... |
OMIM:305100 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Ataxia, Sho... |
ORPHA:31 |
| Acrocephalopolydactyly |
|
Short neck, Hepatosplenomegaly, Short long bone, Microtia, Protuberant abdomen, Limb undergrowth,... |
ORPHA:221054 |
| Sialuria |
|
Thin upper lip vermilion, Inguinal hernia, Splenomegaly, 2-3 toe syndactyly, Macroglossia, High p... |
OMIM:269921 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Absent or minimally ossified vertebral... |
ORPHA:93271 |
| Secondary Short Bowel Syndrome |
|
Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Vomiting, Abnormal smal... |
ORPHA:95427 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Bone pain, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... |
ORPHA:3337 |
| Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Posteriorly rotated ears, Micrognathia, Postaxial hand polydactyly, ... |
ORPHA:96168 |
| Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Dysmenorrhea, Micrognathia, Feeding difficulties in infancy, Microphallus, Clinoda... |
ORPHA:397590 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Episodic hyperhidrosis, Hype... |
ORPHA:469 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Increased susceptibility to fractures, Dysphagia, M... |
OMIM:304700 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Oral-pharyngeal dysphagia, Short neck, High, narrow palate, Prominent protruding cocc... |
OMIM:300966 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
| Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Feeding difficulties in infan... |
OMIM:105830 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Chorea, Hyperhidrosis, ... |
ORPHA:94093 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Rhizomelia, Epiphyseal stippling, Abnormal ... |
OMIM:302960 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Disp... |
OMIM:619131 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... |
OMIM:617602 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Dental maloc... |
ORPHA:2115 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Recurrent fractures, Urinary incontinence, Inability to walk, Feedin... |
OMIM:620368 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hypohidrosis, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Cleft palate, ... |
OMIM:601701 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyr... |
ORPHA:189427 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Py... |
ORPHA:261197 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615108 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Poor appetite, Micrognath... |
ORPHA:96182 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Ataxia, Joint hypermobility, Carious teeth, Obesity, Protruding ear, La... |
OMIM:620191 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthritis, Anemia |
ORPHA:375 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly place... |
ORPHA:798 |
| Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic h... |
OMIM:601803 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious t... |
ORPHA:377 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... |
OMIM:615866 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Renal salt wasting, Decreased ... |
ORPHA:85138 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Hearing impairment, Carious teeth, Abnor... |
ORPHA:3194 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Neonatal hype... |
OMIM:300896 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Adducted thumb, Hydrocele testis, Notched primary central incisor, Low-set ears, B... |
OMIM:620062 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
| Ane Syndrome |
|
Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea... |
ORPHA:157954 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Short stature, Uplifted earlobe, Abnormality of the dentition, Prec... |
ORPHA:261652 |
| Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Reduced bone mineral density, Genu val... |
ORPHA:742 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
| Pseudohypoparathyroidism Type 2 |
|
Abdominal symptom, Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Paresthesia, Hypocalc... |
ORPHA:94090 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Myeloid leukemia, Nausea, Neutrophilia, Abdominal pain, Leukocytosi... |
ORPHA:98849 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Recurrent fract... |
OMIM:618188 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensor... |
OMIM:109120 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Feeding difficulties in infa... |
ORPHA:746 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Micrognathia, Short phalanx of finger, Joint laxity, Short stature, Wide anterior fon... |
OMIM:225410 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615109 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
| Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal distention, Gonada... |
ORPHA:314473 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Short stature, Recurrent fractures, Splenomegaly, Aminoaciduria, Abnormal metaphysis morphology |
ORPHA:417 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Ataxia, Elevated circulating growth hormone ... |
ORPHA:300373 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Iron deficiency anemia, Tubuloi... |
ORPHA:358 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Short neck, Cleft palate, Hi... |
OMIM:616038 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Protruding ear, Down... |
ORPHA:236 |
| Familial Dysautonomia |
|
Hyponatremia, Renal insufficiency, Ataxia, Recurrent fractures, Impaired pain sensation, Feeding ... |
ORPHA:1764 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Hypohidrosis, Hypocalcemia, Nephropathy, ... |
ORPHA:1563 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Gastroesophageal reflux, Hypoalbuminemia, Decreased serum zinc, Abnormal eso... |
ORPHA:89842 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... |
ORPHA:97360 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Dy... |
OMIM:616866 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, Feeding difficulties in infancy, Ve... |
ORPHA:2745 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga, Delayed skeletal maturation, Abnormality of the vertebral column, Wris... |
OMIM:191420 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Neonatal s... |
ORPHA:289 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
| Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis |
ORPHA:313906 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
| Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Lipodystrophy, Micrognathia, Postnatal growth retardation, Congenital... |
ORPHA:435628 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Sho... |
OMIM:617925 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Short stature, Precocious puberty, Long penis, ... |
OMIM:262190 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding,... |
OMIM:309520 |
| Monosomy 18P |
|
Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Cleft palate, Protruding ... |
ORPHA:1598 |
| Charge Syndrome |
|
Bifid scrotum, Feeding difficulties in infancy, Abnormal tibia morphology, Hemivertebrae, Hypopla... |
ORPHA:138 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastrointestinal dysmotility, Abn... |
ORPHA:531151 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypoplasia of the max... |
OMIM:106260 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai... |
ORPHA:99772 |
| Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Ear pain, Feeding difficulties, Palmoplantar hyperhidrosis, Advan... |
ORPHA:2309 |
| Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Hypomagnesiuria, Renal hypophosphatemia, Peptic ulcer, Osteomalacia, Hyperca... |
ORPHA:405 |
| Marshall Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineur... |
ORPHA:560 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Dental crowding, Arachnodactyly, Anorexia, Recurrent fractures, Join... |
ORPHA:394 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Inability to walk, Bilateral conductive hea... |
OMIM:617802 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:158350 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Pachydermoperiostosis |
|
Impaired temperature sensation, Bone pain, Hyperhidrosis, Avascular necrosis, Genu varum, Osteopo... |
ORPHA:2796 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Distal sens... |
ORPHA:36386 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl... |
OMIM:264270 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... |
ORPHA:824 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect... |
ORPHA:280062 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Micrognathia, Cleft hard palate, Short neck, Nephrocalcinosis, Clinodactyly of t... |
OMIM:300990 |
| Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, No permanent dentition, Flexion contractur... |
ORPHA:821 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cr... |
OMIM:601499 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Hemivertebrae, Protruding ear, Downturned corners of mouth, ... |
OMIM:156200 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Nephrocalcinosis, High palate, Advanced eruption of teeth... |
ORPHA:769 |
| Zttk Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, P... |
OMIM:617140 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Vomiting, Nausea, Short stature, Delayed skeletal maturation, Osteopor... |
OMIM:222700 |
| Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Congenital contracture, High palate, Micropenis, H... |
OMIM:248700 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Decreased fertility, Hypoplasia of teeth, Growth delay, Macrotia |
OMIM:234050 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Confusion, Abdom... |
ORPHA:3260 |
| Acute Intermittent Porphyria |
|
Back pain, Urinary incontinence, Hyperhidrosis, Hyponatremia, Confusion, Abdominal pain, Porphyri... |
ORPHA:79276 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... |
ORPHA:2237 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feed... |
ORPHA:453504 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive heari... |
ORPHA:1997 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feed... |
ORPHA:352665 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long finge... |
OMIM:608149 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypospadias, Large for gestational age, Cryptorchidism, Wide mouth, Gait dis... |
ORPHA:457485 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Feeding difficulties in infancy, Cari... |
OMIM:219200 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Inguinal hernia, Congenital hip dislocation, Short stature, Lipodystro... |
ORPHA:357074 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S... |
ORPHA:449395 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... |
ORPHA:103907 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Posteriorly ro... |
OMIM:247200 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hem... |
ORPHA:2169 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl... |
OMIM:619142 |
| Tooth Agenesis, Selective, 3 |
|
Anhidrosis, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia |
OMIM:604625 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, Gastroesophageal reflux,... |
OMIM:616580 |
| Johnson Neuroectodermal Syndrome |
|
Severe short stature, Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Hyp... |
ORPHA:2316 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Somatic sensory dysfunction, Inguinal hernia, Anorexia, Abdominal pain, Abdominal dist... |
ORPHA:51890 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Brachydactyly, Hypospadias, Short lingual frenulum, Posteriorly ro... |
OMIM:619479 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of permanent teet... |
ORPHA:839 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Ataxia, Short stature, Limb joint contracture, Tapered finger, Splenom... |
OMIM:301072 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, ... |
ORPHA:97289 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Abnormality of the... |
ORPHA:3455 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati... |
ORPHA:29073 |
| Castleman Disease |
|
Myelofibrosis, Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Elevated circula... |
ORPHA:160 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Gait disturbance, Vertebral compression f... |
ORPHA:85193 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Ataxia, Proteinuria, Thrombocytopenia, Splenomegaly... |
ORPHA:77261 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Anhidrosis, Splenomegaly, Hypocalcification of dental enamel, Chronic otitis me... |
ORPHA:169090 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Bone-marrow foam cells, Abdominal distention, Splenomegaly, Malnut... |
ORPHA:75233 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Growth delay, Everted lower lip vermilion,... |
ORPHA:782 |
| Proteus Syndrome |
|
Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal cyst, Clinodactyly of th... |
ORPHA:744 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigable weakness, Abnormal dental enamel morphology |
ORPHA:257 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Progressive neurologic dete... |
ORPHA:2131 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Anorexia, Renal salt wasting, Precocious pube... |
ORPHA:361 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Natal tooth, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Overlapping ... |
OMIM:123790 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... |
OMIM:618150 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Abnormality of the ... |
ORPHA:363444 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism |
OMIM:203330 |
| Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri... |
OMIM:211380 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Pheochromocytoma, Ganglioneuromatosis, Elevated urinary vanillylmandelic acid, Joi... |
ORPHA:653 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal par... |
OMIM:154500 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia, Malabsorption |
ORPHA:99811 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl... |
ORPHA:173 |
| Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis,... |
ORPHA:94080 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of fi... |
ORPHA:391474 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdom... |
ORPHA:275761 |
| Leprechaunism |
|
Rectal prolapse, Protruding ear, Nephrocalcinosis, Increased circulating renin level, Enlarged ov... |
ORPHA:508 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration, Abdominal di... |
OMIM:619423 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Diarrhea, Leukocytosis, Abnormal blood ion concentration, Olig... |
ORPHA:31824 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Feeding difficulties in infancy, Ectopic kidney, ... |
OMIM:135900 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Feeding difficulties in infancy, Proximal placemen... |
ORPHA:199 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
| Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal dental enamel morphology, Feeding difficulties in infancy, Cheilitis, Hemat... |
ORPHA:1334 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joi... |
OMIM:619115 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopenia, Weight loss,... |
ORPHA:69077 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis... |
ORPHA:2908 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Decreased proportion of naive T cells, Malabsorption, Hypothyro... |
ORPHA:83471 |
| Adnp Syndrome |
|
Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger morphology, Protruding ear, Gast... |
ORPHA:404448 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Micro... |
OMIM:612651 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Conductive hear... |
OMIM:263750 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft... |
OMIM:620107 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Cleft... |
OMIM:616462 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Dysmenorrhea, ... |
ORPHA:2348 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Gaucher Disease, Type Ii |
|
Progressive neurologic deterioration, Trismus, Thrombocytopenia, Splenomegaly, Feeding difficulti... |
OMIM:230900 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... |
ORPHA:263508 |
| Melioidosis |
|
Foot osteomyelitis, Abnormality of the spleen, Osteoarthritis, Abnormal parotid gland morphology,... |
ORPHA:31202 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Small scrotum, Tented upper lip vermilion, External genital hypoplasia, Cryptorchidis... |
OMIM:614231 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... |
ORPHA:77301 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturne... |
ORPHA:79500 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomiting... |
OMIM:143880 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cl... |
ORPHA:2152 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Hiatus hernia, Patent ductus arteriosu... |
OMIM:619769 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Multiple impacted teeth, Short clav... |
OMIM:113300 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... |
OMIM:135500 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Progressive neurologic deterioration, Delayed epiphyseal os... |
OMIM:210710 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otitis medi... |
ORPHA:353281 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Hypospadias, Postnatal growth ... |
ORPHA:1465 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Short stature, Elevated circulating creatine kinase concentration, Micrognathia, Ca... |
OMIM:604173 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morph... |
ORPHA:449432 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Ataxia, Confusion, Hyperkalemia, Renal tubular epithelial necrosi... |
ORPHA:31826 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Pain insensitivity, Ataxia, Broad-based gait, Autoamput... |
OMIM:256810 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma... |
ORPHA:449563 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Gastroesophageal ... |
OMIM:619472 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Hypohidrosis, Marked delay in eruption of permanent teeth, Ye... |
OMIM:104570 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Mal... |
ORPHA:35710 |
| Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Protruding ear, Abnormal T cell morphology, Knee flexion contr... |
ORPHA:3132 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Absent t... |
OMIM:603457 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ataxia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukope... |
OMIM:127550 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... |
ORPHA:544482 |
| Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentration, Conf... |
ORPHA:466650 |
| Oslam Syndrome |
|
Short stature, Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean c... |
ORPHA:2760 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Short neck, Flexion contractur... |
OMIM:263650 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,... |
ORPHA:309031 |
| Tetrasomy 9P |
|
Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Sh... |
ORPHA:3310 |
| Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of ... |
OMIM:136140 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... |
ORPHA:228396 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Abnormal dental enamel morphology, Cryptorchidism, Delayed skeleta... |
ORPHA:2273 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Oral mucosal blisters, Abnormality of the ure... |
ORPHA:158684 |
| Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Hypothyroidism, Th... |
ORPHA:95720 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Bowing of the long bones, Functional intestinal obstruction, ... |
ORPHA:199276 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Impaired vibratory sensation, Low back pain, Pain insensitivity, Osteomyelitis, Anhidrosis, Recur... |
OMIM:608654 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, External ge... |
ORPHA:177907 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Leukocytosis, Bloody dia... |
ORPHA:391673 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Impaired proprioception, Gr... |
ORPHA:71 |
| Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con... |
OMIM:300166 |
| 3Mc Syndrome |
|
Abnormal pinna morphology, Supernumerary nipple, Craniosynostosis, Bilateral cryptorchidism, Post... |
ORPHA:293843 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Broad-based gait, Abnormal dental morphology, Under... |
ORPHA:369950 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Ovarian neoplasm, Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
| Glycogen Storage Disease Ia |
|
Short stature, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Growth delay, Fo... |
OMIM:232200 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Sensorineural hearing impairment, Rickets, Stage 5 chronic ki... |
OMIM:268315 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis |
OMIM:129550 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Inguinal hernia, Splenomegaly, Sensorineural hearing impairment, Vacuolate... |
OMIM:248500 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th ... |
OMIM:167730 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Cachexia, Abd... |
ORPHA:83469 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Leukocytosis, Chronic diarrhea, Gastroesophageal ... |
OMIM:620233 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
| Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Abdominal diste... |
ORPHA:90051 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Short philtrum, Joint c... |
ORPHA:363611 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... |
OMIM:218700 |
| Knobloch Syndrome 2 |
|
Micrognathia, Pyloric stenosis, Patent ductus arteriosus, Chronic constipation, Enamel hypoplasia |
OMIM:618458 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Clinodactyly, Gait ataxia, Widely spaced teeth, Shor... |
OMIM:280000 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowi... |
OMIM:207410 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia, ... |
ORPHA:94086 |
| Adamantinoma |
|
Pathologic fracture, Bone pain, Hypercalcemia |
ORPHA:55881 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo... |
ORPHA:1110 |
| Wilson Disease |
|
Acute hepatic failure, Back pain, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomeg... |
ORPHA:905 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Gastroesophageal r... |
OMIM:620186 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353277 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Brachydactyly, Short stature, Thrombo... |
ORPHA:508542 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Short attention s... |
ORPHA:438216 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Anemia, Osteopet... |
OMIM:612301 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Osteoporosis, Microdontia, Or... |
OMIM:224230 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Micrognathia, Feeding difficulties in infancy, High palate, Hypochole... |
OMIM:244450 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Precocious ... |
ORPHA:50 |
| Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
| Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears... |
OMIM:617237 |
| Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... |
OMIM:606824 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrolithiasis,... |
OMIM:248190 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fallo... |
ORPHA:2556 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p... |
ORPHA:2920 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mandibular prognathia, Chronic gastritis, Mild postnatal growth retardation, Microgna... |
OMIM:150230 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the ma... |
ORPHA:96129 |
| Polyembryoma |
|
Isosexual precocious puberty, Abdominal pain, Elevated circulating alpha-fetoprotein concentratio... |
ORPHA:180229 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death... |
OMIM:275210 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tub... |
ORPHA:79078 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... |
OMIM:101400 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Patent ductus arteriosus, Anemia, Abnormal vagina morphology,... |
ORPHA:2123 |
| 3Mc Syndrome 1 |
|
Dental crowding, Clinodactyly of the 5th finger, Conductive hearing impairment, Spina bifida occu... |
OMIM:257920 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy... |
OMIM:264090 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... |
OMIM:270420 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglycer... |
OMIM:278000 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Unilateral renal age... |
OMIM:613680 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Increased... |
ORPHA:97280 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Abnormality of dental color, Short stature |
ORPHA:1006 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Dysphagia, Arthrogryp... |
OMIM:616867 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Carious teeth, Intrauterine growth retardation, Premature loss of teeth, Failure to thriv... |
OMIM:616353 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Dental crowding, Small for gestational age, Poor appetite, Delayed eruption of primar... |
OMIM:617799 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Short stature, Broad femoral neck, Increased intervertebral sp... |
OMIM:619727 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Gastroe... |
OMIM:619534 |
| Gapo Syndrome |
|
Micrognathia, High, narrow palate, Delayed skeletal maturation, Thick lower lip vermilion, Wide a... |
OMIM:230740 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat... |
ORPHA:158687 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... |
OMIM:617402 |
| Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Short neck, Abdominal distention, Rectal atres... |
OMIM:617666 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Conjugated hyperbilirubinemia, Abdominal distention, Hyperkalemia, Hyp... |
OMIM:618528 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Micrognathia, Asplenia, Short neck, Ambiguous genitalia, female, Lob... |
OMIM:249000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Elbow contracture, Abdominal distention, Sensorineural hearing impairment, Feedi... |
OMIM:620275 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Stage 5 c... |
OMIM:104200 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bow... |
OMIM:617022 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia, Proteinuria, Elevated urinary n... |
ORPHA:276621 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Celiac disease, Abdominal distention, Conjugated hyperb... |
ORPHA:186 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Urinary incontinence, Bowel incontinence, Abdominal distention, Chorea, Pro... |
ORPHA:309271 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Renal salt wasting, Decreased ... |
ORPHA:95409 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Cupped ear... |
OMIM:620192 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Delayed skeletal maturation, Small hand, Spina... |
ORPHA:488434 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Short neck, Feeding difficulties in ... |
ORPHA:1675 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Micropenis, Ureteral s... |
OMIM:269150 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Hypospadias, Aganglionic megacolon, Supernumerary nippl... |
OMIM:235730 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Ectopic kidney, Reduced bone mineral d... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Ectopic kidney, Reduced bone mineral d... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Ectopic kidney, Reduced bone mineral d... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Ectopic kidney, Reduced bone mineral d... |
ORPHA:881 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemiver... |
ORPHA:500150 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Breast aplasia, Hypoplastic nip... |
ORPHA:1231 |
| Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint la... |
ORPHA:1596 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Lower limb dysmetria, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abno... |
ORPHA:363700 |
| Letterer-Siwe Disease |
|
Abdominal distention, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Sh... |
OMIM:617337 |
| Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the ant... |
ORPHA:54595 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie... |
OMIM:613070 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Renal cyst, Adenoma sebaceum, Atte... |
OMIM:191100 |
| Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Short stature, Kyphosis, Diarrhea, Thick lower lip vermilio... |
OMIM:208400 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Menometrorrhagia, Abnormal dental enamel morpho... |
ORPHA:79430 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Hypopla... |
ORPHA:3044 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... |
OMIM:274000 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
| Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Protr... |
OMIM:614976 |
| Dyskeratosis Congenita, X-Linked |
|
Hyperhidrosis, Leukopenia, Premature loss of teeth, Hypospadias, Ataxia, Short stature, Cryptorch... |
OMIM:305000 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
| Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae,... |
ORPHA:672 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped e... |
ORPHA:2399 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Short stature, Decrea... |
OMIM:619127 |
| Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Sco... |
OMIM:615220 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Crypt... |
ORPHA:1101 |
| Gonadoblastoma |
|
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... |
ORPHA:206484 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri... |
OMIM:229600 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Growth delay, Hypokalemia,... |
OMIM:214700 |
| Benign Schwannoma |
|
Intestinal polyposis, Hearing abnormality, Vertigo, Abnormal fibula morphology, Vestibular schwan... |
ORPHA:252164 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... |
ORPHA:487796 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short neck, Deep philtrum, Finger joint hypermobility, Joint laxity, Juvenile myelomonocytic leuk... |
OMIM:613563 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Short neck, Increased femoral a... |
OMIM:609460 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Enlarged labia minora, Kyphosis, Gingival fibromatosis,... |
OMIM:266270 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Ataxia, Short stature, Autoimmune thrombocyt... |
ORPHA:77293 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Weigh... |
ORPHA:90003 |
| Blau Syndrome |
|
Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Xerostomia, Stage 5 chronic ... |
ORPHA:90340 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Hyperhidrosis, Acute tubulointerstitial nephritis, Tubulointerstitial nephriti... |
ORPHA:340 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cl... |
ORPHA:261537 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Weight loss, Menorrhagia, Consti... |
ORPHA:168816 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom... |
OMIM:239199 |
| Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Micrognathia, Knee flexion contrac... |
OMIM:606170 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Scarring, Abnormal circulating porphyrin concentrati... |
ORPHA:95159 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, A... |
ORPHA:83617 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
| Catel-Manzke Syndrome |
|
Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula,... |
OMIM:616145 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Carious teet... |
OMIM:615560 |
| Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... |
OMIM:210900 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Low-s... |
ORPHA:171430 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia, Proteinuria, Elevated urinary n... |
ORPHA:29072 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, Feeding difficulties in infancy, High, narrow pal... |
OMIM:163950 |
| Cerebrooculonasal Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Postaxial polydactyly, Postnatal growth retardation, ... |
OMIM:605627 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Microdontia, Hypoplasi... |
ORPHA:920 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Elevated circulating alpha-fetoprotein concentration, Abdominal distention, Diarrhea, E... |
ORPHA:100085 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Precoc... |
OMIM:304050 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, High pa... |
OMIM:276820 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Short stature, Eosinophilia, Supernumerary nipple, Conical tooth, Scar... |
OMIM:308300 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Micrognathia, Short neck, Gingival overgrowth, Gingival fibromatosis, L... |
ORPHA:1832 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Abnormal v... |
OMIM:600383 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Uplifted earlobe, Micrognathia, Short neck, Ureterocele, Short palm, Clinodactyly ... |
OMIM:616734 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... |
OMIM:613091 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
| Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Multiple joint contractures, Hypospadias, Campt... |
ORPHA:1662 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo... |
OMIM:620076 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Anorexia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Spleno... |
ORPHA:50918 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Urinary incontinence, Abdominal distention, Progressive psychomotor deterio... |
ORPHA:309263 |
| Neurofibromatosis Type 1 |
|
Multiple lipomas, Pheochromocytoma, Genu varum, Ataxia, Short stature, Precocious puberty, Crypto... |
ORPHA:636 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Bone pain, Colon cancer, Nodular goiter, Goiter |
ORPHA:319487 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progres... |
ORPHA:309256 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Parathyroid carci... |
OMIM:145001 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cl... |
ORPHA:261552 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Abnormal endometrium morphol... |
ORPHA:314478 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Palmoplantar hyperhidrosis, Angular cheilitis |
OMIM:167210 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Brachydactyly, Ectopic kidney, Cryptorchidism, Patent ductus arte... |
ORPHA:1519 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Clinodactyly ... |
OMIM:619522 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Abdomi... |
OMIM:271520 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, Micrognathia, Feeding difficulties in infancy, P... |
OMIM:147920 |
| Thyroid Ectopia |
|
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Ectopic thyroid, U... |
ORPHA:95712 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, Vertebral comp... |
OMIM:230800 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malab... |
ORPHA:1876 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Renal cyst, Gastroesophageal reflux, Condu... |
OMIM:113620 |
| Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Abdominal disten... |
OMIM:617156 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Colon cancer, Recurrent fractures, Goiter |
ORPHA:97290 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Muir-Torre Syndrome |
|
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Colon cancer, Adenoma se... |
ORPHA:587 |
| Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97278 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... |
OMIM:268300 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... |
ORPHA:2975 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... |
OMIM:122880 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Igg4-Related Pachymeningitis |
|
Low back pain, Somatic sensory dysfunction, Sinusitis, Eosinophilia, Elevated circulating C-react... |
ORPHA:449427 |
| Mirizzi Syndrome |
|
Dark urine, Abdominal colic, Nausea, Abdominal pain, Anorexia, Abdominal distention, Pancreatitis... |
ORPHA:521219 |
| Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97283 |
| Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Pheochromocytoma, Episodic abdominal pain, Increas... |
ORPHA:97261 |
| Carney Complex |
|
Neoplasm of the stomach, Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... |
ORPHA:733 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
| Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine... |
OMIM:215600 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
| Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Episodic abdominal pain, Hematochezia, Hypokalemia, ... |
ORPHA:97282 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Underdeveloped antitragus, Abnormality of the de... |
ORPHA:2036 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Short stature, Scarring, Abnormality... |
ORPHA:158668 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef... |
ORPHA:2250 |
| Currarino Syndrome |
|
Absence of the sacrum, Anal stenosis, Hemisacrum, Neurogenic bladder, Urinary incontinence, Septa... |
OMIM:176450 |
| Orofaciodigital Syndrome Xiv |
|
Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglottis, Anteriorly placed anus... |
OMIM:615948 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... |
ORPHA:3404 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... |
ORPHA:95455 |
| Brittle Cornea Syndrome 2 |
|
Inguinal hernia, Recurrent fractures, Gait disturbance, Umbilical hernia, Joint hypermobility, He... |
OMIM:614170 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Megacystis, Nephrolithiasis, Hypoperistalsis |
OMIM:619365 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
| Neurofibroma |
|
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... |
ORPHA:252183 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:306542 |
| Dermatitis Herpetiformis |
|
Microcytic anemia, Bone pain, Recurrent fractures, Malabsorption |
ORPHA:1656 |
| Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ... |
ORPHA:913 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, ... |
ORPHA:79665 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Abnormal pinna morphology, Arachnodactyly, Congeni... |
OMIM:614437 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of t... |
ORPHA:2166 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging... |
ORPHA:286 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Omphalocele, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotati... |
ORPHA:2241 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis, Pheochromocytoma |
OMIM:171420 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Pitu... |
ORPHA:276152 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorptio... |
OMIM:145981 |
| Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, Anotia, Conductive hearin... |
OMIM:164210 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... |
ORPHA:2290 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Short stature, Recurrent fractures, Joint hypermobility |
OMIM:619120 |
| Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia, Abdominal pain |
ORPHA:284400 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures... |
OMIM:602531 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Intestinal malrotation, Abdominal distention, Bloody di... |
ORPHA:436252 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... |
ORPHA:677 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia |
ORPHA:1198 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
| Eisenmenger Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdominal distention,... |
ORPHA:97214 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a... |
ORPHA:423 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul... |
OMIM:180500 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Hyperhidrosis, Leukopeni... |
ORPHA:2330 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Cellulitis, Abnormal neutro... |
ORPHA:51636 |
| Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis, Leukopen... |
ORPHA:99827 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Abdominal distention, Patent ductus arteriosus, Sensorineural hearing impa... |
OMIM:619351 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea |
ORPHA:100086 |
| Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
| Lymphatic Malformation 7 |
|
Abdominal distention, Anemia |
OMIM:617300 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Megacystis, Hydronephrosis, Neonatal death, Microcolon |
OMIM:619362 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Volvulus, Intu... |
OMIM:112200 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Severe short stature, Pyloric stenosis, Wide anterior fontanel, Hi... |
ORPHA:90349 |
| Rat-Bite Fever |
|
Back pain, Parotitis, Diarrhea, Oligoarthritis, Weight loss, Arthritis, Vomiting, Septic arthriti... |
ORPHA:31205 |
| Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis, Pheochromocytom... |
OMIM:171300 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia |
OMIM:180920 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cl... |
OMIM:610828 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat... |
OMIM:157170 |
| Atresia Of Urethra |
|
Renal insufficiency, Hydroureter, Abdominal distention, Megacystis, Patent urachus, Vesicouretera... |
ORPHA:105 |
