Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Short stature, Generalized lipody... |
ORPHA:50811 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Hypoplasia of the maxill... |
OMIM:608154 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Increa... |
ORPHA:94068 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Short femur, Small for gestational age, Fractured radius, Micrognathia, Decreased fib... |
OMIM:616897 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... |
OMIM:619598 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... |
ORPHA:750 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Coxa vara,... |
ORPHA:1988 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
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 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Abnormality of the knee, Prominence of the premaxilla, Inguinal hernia, Congenital hip dislocatio... |
ORPHA:2412 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,... |
OMIM:184260 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Severe short stature, Epiphyseal dysplasia, Ovoid vertebral bodies,... |
OMIM:132400 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... |
ORPHA:56304 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Micrognathia, Flat capital... |
OMIM:147891 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal widening of metacarpals, Co... |
OMIM:602535 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Pelviscapular Dysplasia |
|
Short femur, Short stature, Congenital hip dislocation, Hypoplastic scapulae, Short neck, Hypopla... |
ORPHA:93333 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, Amelogenesi... |
OMIM:618363 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Macroc... |
OMIM:614753 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... |
ORPHA:439822 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... |
OMIM:166300 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Microcephaly, Wide anterior fontanel, Growth delay, ... |
OMIM:614886 |
Anauxetic Dysplasia 2 |
|
Relative macrocephaly, Metaphyseal dysplasia, Short stature, Hypoplasia of the femoral head, Thor... |
OMIM:617396 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... |
OMIM:612350 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hy... |
ORPHA:763 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, ... |
ORPHA:85279 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density... |
OMIM:618392 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Knee flexion contracture, Death in childhood, Wrist flexion contracture, Dislocated... |
OMIM:610758 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Os... |
OMIM:177170 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve... |
OMIM:231070 |
Carpenter Syndrome 1 |
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Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Short pa... |
ORPHA:915 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Hypoplastic cervical vertebrae, Vertebra... |
ORPHA:79345 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Short stature, Arachnodactyly, Proximal placement of ... |
OMIM:620370 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Osteopenia, Short neck, Hypoplasia of the maxilla, S... |
OMIM:166250 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, S... |
OMIM:615222 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Severe short stature, Microcephaly, Decreased body weight, In... |
OMIM:618724 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short stature, Small for gestational age, Micromelia, Iliac crest serration, Po... |
OMIM:613320 |
Ruvalcaba Syndrome |
|
Short palm, Inguinal hernia, Short metacarpal, Short stature, Micromelia, Microcephaly, Kyphosis,... |
OMIM:180870 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... |
OMIM:215140 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
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 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... |
ORPHA:157965 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Coxa valga, Hy... |
OMIM:620099 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Short stature, Small for gestational age, Lumba... |
OMIM:216550 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... |
OMIM:612447 |
Keipert Syndrome |
|
Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ... |
ORPHA:2662 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Antegonial notching of man... |
OMIM:170390 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:136760 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Short... |
ORPHA:950 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... |
OMIM:224690 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Small for gestational age, Micrognathia, Microcephaly, Broad thumb, Cl... |
OMIM:620194 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hy... |
OMIM:212720 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Postnatal growth retardat... |
OMIM:265050 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Microcephaly, Missing ribs, Small h... |
ORPHA:50 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Retr... |
OMIM:300280 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Iliac crest ser... |
OMIM:607326 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Flex... |
OMIM:215150 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Postna... |
OMIM:304050 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal g... |
OMIM:607143 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Foot oligodactyly, Scoliosis, Amelia |
OMIM:601357 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Single transverse pa... |
OMIM:616145 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
Three M Syndrome 1 |
|
Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp... |
OMIM:273750 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex... |
ORPHA:776 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Brachydactyly, Short metatarsal, Obesity, Advanced ossif... |
OMIM:614613 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Hyperplasia of the maxilla |
OMIM:618383 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar a... |
OMIM:613804 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Short stature, Repeated pneumothoraces, Congenital diaphragmatic hernia, Arachnodacty... |
OMIM:617602 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies... |
ORPHA:2462 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent frac... |
OMIM:618188 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Herniation of int... |
OMIM:601216 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Pyruvate Dehydrogenase Deficiency |
|
Microcephaly, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Growth... |
ORPHA:765 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Brachydactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Mic... |
OMIM:300534 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, B... |
ORPHA:261295 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... |
OMIM:277170 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... |
ORPHA:1529 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral epiphysis... |
OMIM:613805 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphy... |
ORPHA:90653 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Short foot, Cone-shaped epiphysis... |
OMIM:102370 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Short stature, Micrognathia, Hypoplasia of the ma... |
OMIM:613803 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Dislo... |
OMIM:182212 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Short... |
ORPHA:193 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr... |
ORPHA:508488 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormal mandible morphology |
ORPHA:401942 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Micrognathia, Hypoplasia of the... |
OMIM:601390 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Macrocephaly, L... |
OMIM:300676 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Pes planus, Micrognathia, Short neck, Clinodacty... |
OMIM:157900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Micrognathia, Microcephaly, Asthma, Tachypnea, Pneumothorax... |
ORPHA:2257 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Joint hypermobility, Hypoplasia of the max... |
ORPHA:481152 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Small for gestational age, Microcephaly, Hypoplasia of the ... |
ORPHA:93950 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Knee dislocation, Clinodactyly of the 5t... |
OMIM:620083 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Pes planus, Short stature, Hyperextensi... |
OMIM:130000 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Ap... |
ORPHA:2554 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral f... |
OMIM:139210 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Single transverse palmar crease, Congenital diaphragmatic hernia, Mi... |
ORPHA:2409 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Advanced eruption of teeth, Sho... |
ORPHA:192 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Short stature, Arachnodactyly, Kyphoscoliosis,... |
OMIM:614856 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Respiratory insufficiency, Abnormal form o... |
ORPHA:93262 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contracture, Femor... |
OMIM:601559 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Genu varum, Long toe, Short stature, Absence of su... |
OMIM:264090 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equin... |
OMIM:604320 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasi... |
ORPHA:178303 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossificatio... |
OMIM:618265 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro... |
OMIM:114290 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi... |
ORPHA:93356 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long finge... |
OMIM:608149 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, M... |
OMIM:614437 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polyd... |
OMIM:617102 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external... |
ORPHA:2399 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Asthma, Short toe, Obesity, Cone-shaped epiphyses of the... |
OMIM:619269 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Pes planus, Sacral dimple, Short stature, Micrognathia, Postnatal growth retardatio... |
OMIM:605130 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Emphysema, Short sta... |
ORPHA:2834 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... |
OMIM:112410 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... |
ORPHA:2774 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebr... |
OMIM:109120 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Short stature, Small for gestational age, Hypoplasia of the maxilla, Clinodactyly,... |
OMIM:614261 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Mohr Syndrome |
|
Short palm, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand pol... |
OMIM:252100 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Pes planus, Small for gestational age, Microcephaly |
OMIM:618302 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, Short stature,... |
ORPHA:3455 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morpholog... |
ORPHA:2095 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe... |
ORPHA:245 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Relative macrocephaly, Scapular winging, Severe short stature, Short s... |
OMIM:612921 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Microcephaly, Flexion contracture, Growt... |
ORPHA:17 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Severe short stature, Femoral ... |
ORPHA:2588 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Microcephaly, Genu valgum, Growth delay, Macrocephaly, Joint hypermobility |
OMIM:617798 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Short stature, Fifth finger distal phalanx clinodact... |
OMIM:257850 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Dislocation of the femoral head, Talipes, Micrognathia, Mi... |
OMIM:210730 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short stature, Thin bony cortex, Proportionate short stat... |
OMIM:608328 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Three M Syndrome 3 |
|
Small for gestational age, Short stature, Microcephaly, Short neck, Increased vertebral height, H... |
OMIM:614205 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Micrognathia, Microcephaly, Cuboid-shaped vertebral bodies... |
OMIM:612731 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ... |
OMIM:618395 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Joint laxity, Hyperplasia of the maxilla |
OMIM:613671 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Bilateral singl... |
ORPHA:794 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Joint laxity, Lipodystrophy, Lipo... |
OMIM:269880 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Short stature, Overlapping toe, Thoracolum... |
OMIM:616723 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascular necrosis of the... |
ORPHA:77258 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnor... |
ORPHA:1486 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... |
OMIM:213980 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... |
OMIM:277600 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... |
OMIM:271640 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Tal... |
ORPHA:314679 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Short stature, Spontaneous neonatal pneumothorax, Micr... |
OMIM:225410 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Abnormal distal phalanx morph... |
ORPHA:2673 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Micrognathia, Microcephaly, Patellar aplasia, Birth length less than 3rd percentil... |
OMIM:613800 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S... |
OMIM:600373 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... |
ORPHA:508533 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short stature, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Metaphyseal widening, Osteopathia striata, Delay... |
ORPHA:93357 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short n... |
OMIM:300990 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Femoral bowing, Flared lowe... |
OMIM:616462 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral ... |
ORPHA:73230 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... |
OMIM:611560 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:609220 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Microcephaly, ... |
OMIM:620157 |
7Q31 Microdeletion Syndrome |
|
Postnatal growth retardation, Hypoplasia of the maxilla, Asthma, Clinodactyly of the 2nd finger, ... |
ORPHA:251061 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... |
ORPHA:397715 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Small hand, Growth delay, Short foot, Second... |
ORPHA:3095 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th... |
ORPHA:2463 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin... |
OMIM:126550 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia o... |
OMIM:309520 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, 2-3 toe syndactyly, Knee f... |
OMIM:618156 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Carious teeth, Small hand, Birth length less than 3rd percentile, Sh... |
OMIM:244460 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hy... |
ORPHA:391474 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge... |
OMIM:119600 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi... |
ORPHA:140 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Severe short stature, Broad long bones, Micromelia, Microcephaly, Increased sku... |
ORPHA:1422 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Lipomas of eyelids, Clinodactyly of the 5th finger |
OMIM:167730 |
Distal Xq28 Microduplication Syndrome |
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Short stature, Epistaxis, Microcephaly, Hypoplasia of the maxilla, Metatarsus adductus, Asthma, C... |
ORPHA:293939 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary micr... |
ORPHA:79113 |
Chronic Intestinal Pseudoobstruction |
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Abnormal platelet morphology |
ORPHA:2978 |
X-Linked Intellectual Disability, Porteous Type |
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Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased body weight |
ORPHA:93945 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Inguinal hernia, Micrognathia, Tachypnea, Growth delay, Pulmonary arterial hypertension, Failure ... |
OMIM:614857 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Pes planus, Short stature, Hypoplasia of the maxilla, Carious teeth, P... |
ORPHA:50814 |
Dominant Beta-Thalassemia |
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Bowing of the long bones, Failure to thrive in infancy, Malar prominence, Dyspnea, Osteoporosis, ... |
ORPHA:231226 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma... |
OMIM:601356 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Abnormal maxilla mor... |
ORPHA:2791 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Nablus Mask-Like Facial Syndrome |
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Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Hypoplasia of the maxi... |
OMIM:608156 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... |
OMIM:166220 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Single transverse palmar crea... |
OMIM:180849 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Respiratory insufficiency, Multiple suture... |
ORPHA:207 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R... |
ORPHA:828 |
Andersen-Tawil Syndrome |
|
Joint laxity, Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:37553 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max... |
OMIM:261540 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndact... |
ORPHA:87 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Retrognathia, Reduced bone mineral density, Increased... |
ORPHA:561 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Me... |
ORPHA:85167 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Czech Dysplasia |
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Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Beta-Thalassemia Major |
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Bowing of the long bones, Failure to thrive in infancy, Malar prominence, Dyspnea, Osteoporosis, ... |
ORPHA:231214 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Palmoplantar hyperke... |
OMIM:615108 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Pes planus, Joint laxity, Short statu... |
OMIM:617402 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, Short tibia, Finger syndactyly, Short statur... |
ORPHA:2751 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
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 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of the premaxilla, Talipes, Micrognathia, Microcephaly, Postaxial hand po... |
ORPHA:2166 |
Zttk Syndrome |
|
Relative macrocephaly, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Kyphosis, Flex... |
OMIM:617140 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Joint hyperflexibility, Umbi... |
ORPHA:96129 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
Chromosome 2Q37 Deletion Syndrome |
|
Short fourth metatarsal, Short metacarpal, Short stature, Short toe, Obesity, Malar flattening, S... |
OMIM:600430 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Apnea, Episodic tachypnea, Micrognathia, Centra... |
ORPHA:2754 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Palmoplantar hyperke... |
OMIM:615109 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Arthritis, Cough, Decreased DLCO |
OMIM:616414 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Progressive microcephaly |
OMIM:618737 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Biparietal narrowing |
ORPHA:228396 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Marshall Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinus... |
ORPHA:560 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, Short phalanx of finger, Genu varum, Short metacarpal, Short sta... |
ORPHA:221016 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Plantar hyperkeratosis, Short stature, A... |
ORPHA:221008 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Osteopenia, Mild postnatal growth retardation, Single transverse palmar cr... |
OMIM:150230 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short pha... |
OMIM:266920 |
Treacher-Collins Syndrome |
|
Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Re... |
ORPHA:861 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... |
OMIM:182250 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short stature, Micrognathia, Short neck, Kyphosis, Dental... |
OMIM:616894 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta... |
OMIM:278250 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... |
OMIM:101400 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Pes cavus, Micrognathia |
OMIM:617616 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Short stature, Small for gestational age, Microcephaly... |
OMIM:613658 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar... |
ORPHA:1101 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Palmoplantar hyperke... |
OMIM:158350 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Tachypnea, Apnea |
OMIM:617622 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia |
OMIM:241310 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... |
OMIM:129400 |
Propionic Acidemia |
|
Short stature, Apnea, Tachypnea, Osteoporosis, Failure to thrive |
OMIM:606054 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Short palm, Clinodactyly of the 5th... |
OMIM:613406 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger |
OMIM:618367 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Micrognathia, Metatarsus adductus, Microcephaly, Osteopathia striata, Lower-limb joint contractur... |
ORPHA:513456 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Postaxial h... |
OMIM:610829 |
Dyskeratosis Congenita |
|
Short stature, Recurrent fractures, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Tauro... |
ORPHA:1775 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Short stature, Early ossification of capital femoral ep... |
OMIM:208500 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Retrognathia, Episodic tachypnea, Micrognathia |
ORPHA:163961 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Broad finger, ... |
OMIM:300845 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... |
OMIM:123500 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Decreased body weight |
OMIM:620085 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan... |
OMIM:601358 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Tachypnea, Hand polydactyly, Biparietal narrowing, Foot polydactyly, Scoliosis |
ORPHA:2318 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Secondary microcephaly, Scoliosis |
OMIM:105830 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Pec... |
ORPHA:306542 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal form of the vertebral bodies, Hand polydactyly, Foot polydact... |
ORPHA:475 |
Goldberg-Shprintzen Syndrome |
|
Tapered finger, Hypoplasia of the maxilla, Microcephaly, Short neck, Increased femoral anteversio... |
OMIM:609460 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Elbow contracture, Campt... |
OMIM:208150 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia |
OMIM:616367 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Dyspnea, Tachypnea, Failure to thrive, Metaphyseal irregularity |
OMIM:239200 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Holoprosencephaly 7 |
|
Omphalocele, Hypoplasia of the premaxilla, Microcephaly, Absent nasal septal cartilage, Macrocephaly |
OMIM:610828 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Microcephaly, Trapezoidal vertebral body, Sho... |
OMIM:600092 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea, Microcephaly |
OMIM:615160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Umbilical hernia, Inguinal hernia, Hypoplasia of the maxilla |
OMIM:601499 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Short stature, Broad hallux, Sag... |
OMIM:614188 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea, Stiff neck |
ORPHA:3299 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the lower li... |
ORPHA:36234 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Lumbar hyperlordosis, Failure to thrive in infancy, Arachnodactyly, Propor... |
ORPHA:500150 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... |
OMIM:211380 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Hypoplasia of the maxilla, Palmoplantar keratoderma, 2-3 toe syndactyly |
OMIM:106260 |
Split Lower Lip |
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Narrow maxilla |
OMIM:183400 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Ablepharon Macrostomia Syndrome |
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Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Hy... |
ORPHA:920 |
Citrullinemia Type I |
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Ankle clonus, Failure to thrive, Tachypnea |
ORPHA:247525 |
Branchiooculofacial Syndrome |
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Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Postnatal growth reta... |
OMIM:113620 |
Rhombencephalosynapsis |
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Microretrognathia, Finger syndactyly, Polydactyly, Macrocephaly, Complete duplication of thumb ph... |
ORPHA:59315 |
Cardiomyopathy, Dilated, 2H |
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Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Floating-Harbor Syndrome |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Small for gestational age, Kyph... |
ORPHA:2044 |
Holocarboxylase Synthetase Deficiency |
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Growth delay, Tachypnea, Respiratory distress, Weight loss |
ORPHA:79242 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
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Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
High Altitude Pulmonary Edema |
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Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Respiratory Distress Syndrome In Premature Infants |
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Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Tachy... |
ORPHA:26793 |
Joubert Syndrome 2 |
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Central apnea, Episodic tachypnea, Abnormal foot morphology, Postaxial hand polydactyly, Postaxia... |
OMIM:608091 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Cleft Velum |
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Hypoplasia of the maxilla, Aspiration pneumonia |
ORPHA:99772 |
Joubert Syndrome 9 |
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Apnea, Episodic tachypnea, Scoliosis |
OMIM:612285 |
Acute Interstitial Pneumonia |
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Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Double Outlet Right Ventricle |
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Abnormality of cartilage of external ear, Failure to thrive, Tachypnea, Short stature |
ORPHA:3426 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Nance-Horan Syndrome |
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Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short... |
OMIM:302350 |
Axenfeld-Rieger Syndrome |
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Growth delay, Hypoplasia of the maxilla |
ORPHA:782 |
Acute Lung Injury |
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Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Atrial Septal Defect, Ostium Primum Type |
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Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Exertional dyspnea,... |
ORPHA:99106 |
Hypohidrotic Ectodermal Dysplasia |
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Hypoplasia of the maxilla, Failure to thrive, Sinusitis, Cough |
ORPHA:238468 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Respiratory arrest, Tachypnea, Death in infancy, Microcephaly |
OMIM:201475 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus |
ORPHA:3044 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Methionine Malabsorption Syndrome |
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Tachypnea |
OMIM:250900 |
Joubert Syndrome 1 |
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Central apnea, Episodic tachypnea, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:213300 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Multifocal Atrial Tachycardia |
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Dyspnea, Tachypnea |
ORPHA:3282 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Tachypnea, Joint stiffness |
OMIM:615934 |
Infant Acute Respiratory Distress Syndrome |
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Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Inguinal hernia, Toe syndactyly, Microcephaly, Hypoplasia of the maxilla, Carious teeth, Split ha... |
OMIM:129900 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Microcephaly, Absent nasal septal cartilage, Scoliosis, Malar flattening |
OMIM:157170 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hypoxemia, Failure to thrive, Tachypnea, Small for gestational age |
ORPHA:860 |
Craniofacial-Deafness-Hand Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand |
OMIM:122880 |
Joubert Syndrome 3 |
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Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Tachypnea |
OMIM:616501 |
Congenital Tricuspid Valve Dysplasia |
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Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... |
ORPHA:555874 |
Arteriosclerosis, Severe Juvenile |
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Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx... |
OMIM:208060 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Microcephal... |
OMIM:606170 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... |
OMIM:604292 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Rh Deficiency Syndrome |
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Hypoxemia, Intrauterine growth retardation, Tachypnea, Miscarriage |
ORPHA:71275 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Microcephaly, Tachypnea, Apnea, Weight loss |
ORPHA:20 |
Beta-Ketothiolase Deficiency |
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Weight loss, Tachypnea, Cough |
ORPHA:134 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Death in infancy, Inguinal hernia, Small for gestational age, Micrognathia, Microcephaly, Tachypn... |
OMIM:220111 |
Coronary Arterial Fistula |
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Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Hartsfield Syndrome |
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Syndactyly, Craniosynostosis, Microcephaly, Growth delay, Ectrodactyly, Hypoplasia of the frontal... |
OMIM:615465 |
Cholera |
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Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
Fructose-1,6-Bisphosphatase Deficiency |
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Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Hypoplasia of the maxilla, Rhinitis, Taurodontia, Respiratory distress |
OMIM:305100 |
Arima Syndrome |
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Dyspnea, Postaxial hand polydactyly, Tachypnea, Growth delay, Postaxial foot polydactyly |
OMIM:243910 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
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Tachypnea |
OMIM:245050 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Pyruvate Carboxylase Deficiency |
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Growth delay, Failure to thrive, Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood, Failure to thrive |
OMIM:618278 |
Tooth Agenesis, Selective, X-Linked, 1 |
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Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H... |
OMIM:164210 |
Holocarboxylase Synthetase Deficiency |
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Tachypnea, Hyperventilation |
OMIM:253270 |
Serotonin Syndrome |
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Tachypnea |
ORPHA:43116 |
Ethylene Glycol Poisoning |
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Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Biotinidase Deficiency |
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Tachypnea, Apnea |
OMIM:253260 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Histiocytoid Cardiomyopathy |
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Failure to thrive, Tachypnea, Cough |
ORPHA:137675 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Failure to thrive, Tachypnea |
ORPHA:415 |
Truncus Arteriosus |
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Intrauterine growth retardation, Tachypnea, Aplasia/hypoplasia involving bones of the extremities |
ORPHA:3384 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
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Tachypnea |
OMIM:615751 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Abnormal facial skeleton ... |
ORPHA:141099 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Malignant Hyperthermia Of Anesthesia |
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Tachypnea, Hypercapnia |
ORPHA:423 |
Double Outlet Left Ventricle |
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Failure to thrive, Tachypnea |
ORPHA:3427 |
Goodpasture Syndrome |
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Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... |
OMIM:233450 |
Scorpion Envenomation |
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Abnormal nasal mucus secretion, Tachypnea |
ORPHA:466677 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea |
ORPHA:2299 |
Joubert Syndrome 5 |
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Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Exercise-Induced Malignant Hyperthermia |
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Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla |
OMIM:180500 |