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Gene: Smpd3 MGI:1927578

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sphingomyelin phosphodiesterase 3, neutral

Synonyms:

4631433G07Rik, Nsm2, nSMase2, neutral sphingomyelinase II, fro

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smpd3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Smpd3 (0 diseases)
Human diseases predicted to be associated with Smpd3 (1932 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Smpd3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,...	OMIM:211350
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h...	OMIM:171480
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of...	ORPHA:3344
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Thoracic kyphoscoliosi...	OMIM:613330
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the...	ORPHA:313855
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu...	OMIM:608940
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow...	OMIM:184260
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Achondroplasia	Respiratory distress, Brachydactyly, Radial bowing, Short femur, Thoracic hypoplasia, Limited hip...	OMIM:100800
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Prominent superficial...	ORPHA:75508
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs...	OMIM:617866
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, A...	OMIM:156550
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Decreased ci...	OMIM:241530
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib...	ORPHA:1803
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis...	OMIM:602471
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the...	OMIM:600920
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Asthma, Coxa vara, ...	OMIM:616716
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Ulnar bow...	OMIM:619135
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:166272
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve...	OMIM:108720
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost...	OMIM:616507
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur...	OMIM:610915
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, ...	ORPHA:289157
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Short lo...	OMIM:618961
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Isolated Growth Hormone Deficiency, Type Ib	Short stature, Decreased response to growth hormone stimulation test, Acromicria, Micropenis, Red...	OMIM:612781
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Caffey Disease	Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo...	ORPHA:1310
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent ...	OMIM:618188
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
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
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul...	OMIM:619479
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ...	OMIM:272460
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P...	OMIM:602152
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal ...	ORPHA:1988
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Ab...	OMIM:600972
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m...	ORPHA:1842
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
3M Syndrome	Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:2616
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Van Bogaert-Hozay Syndrome	Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr...	OMIM:277150
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Abnormal pe...	OMIM:610967
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Prieto Syndrome	11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Osteoporosis, Patella...	OMIM:309610
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Three M Syndrome 1	Mandibular prognathia, Pes planus, Scapular winging, Neonatal respiratory distress, Pectus excava...	OMIM:273750
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l...	ORPHA:1423
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet...	OMIM:256050
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental...	ORPHA:319195
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi...	ORPHA:314795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Thin ribs, Kne...	OMIM:618395
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion...	OMIM:601559
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho...	ORPHA:2790
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h...	OMIM:259775
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviat...	ORPHA:1227
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Microgna...	ORPHA:94068
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min...	ORPHA:289548
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i...	OMIM:259440
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement	OMIM:276821
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever...	ORPHA:168558
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t...	ORPHA:1570
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia...	ORPHA:2831
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi...	OMIM:602557
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly	OMIM:614100
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse...	OMIM:119600
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Mic...	OMIM:114290
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Hypothyroidism, Synostosis of...	ORPHA:3258
Hypophosphatasia, Infantile	Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition, Increased ...	OMIM:241500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu...	OMIM:616229
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Micrognathia, Metaphys...	OMIM:156400
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal b...	ORPHA:93315
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypopla...	OMIM:617895
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Submucous cleft hard pa...	OMIM:222765
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Metatarsus adductus, Elbow disloc...	ORPHA:2804
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxilla, Elevated circulating thy...	OMIM:601812
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Omodysplasia 2	Short humerus, Dyspareunia, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Crypto...	OMIM:164745
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Narrow mouth, F...	ORPHA:1865
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morphology, Abnormal ri...	ORPHA:2097
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel...	ORPHA:50945
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the...	OMIM:309350
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly	ORPHA:171719
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Cryptorchidism, High palate, Camptodactyly, N...	OMIM:618393
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re...	OMIM:614736
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Abnormal...	ORPHA:175
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M...	OMIM:614091
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,...	ORPHA:93328
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thor...	ORPHA:66637
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:357175
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Jaundice, Early ossification of c...	OMIM:208500
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever...	OMIM:615162
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, High ...	OMIM:276820
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis	OMIM:618155
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th...	ORPHA:249
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit...	ORPHA:2557
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture	OMIM:617055
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Seckel Syndrome 4	Steep acetabular roof, 11 pairs of ribs, Retrognathia	OMIM:613676
Tetrasomy X	Premature ovarian insufficiency, Abnormality of the dentition, Joint hyperflexibility, Radioulnar...	ORPHA:9
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Ap...	ORPHA:958
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia...	OMIM:122860
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Posta...	OMIM:615849
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Short femoral neck, Corner fract...	OMIM:184255
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Narrow c...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomeli...	OMIM:607143
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca...	OMIM:619131
Sheehan Syndrome	Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p...	ORPHA:91355
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys...	OMIM:600204
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Glass Syndrome	Smooth philtrum, Arachnodactyly, Anterior tibial bowing, Dental crowding, Micrognathia, Conical t...	OMIM:612313
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th...	ORPHA:2909
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing	OMIM:614441
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, ...	OMIM:617925
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce...	ORPHA:2911
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Periostosis, Large hands, Long foot, Mandibular prognathia	OMIM:102100
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Irregular menstruation, ...	OMIM:616482
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Flat acetabular roof, Elongated femoral neck, Hypoplas...	OMIM:619345
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydacty...	OMIM:612651
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing...	OMIM:117650
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa...	ORPHA:2633
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Bif...	OMIM:218600
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp...	ORPHA:1488
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Subcutaneous calcification	OMIM:617993
Hypophosphatasia, Childhood	Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capi...	OMIM:304150
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Cryptorchidi...	ORPHA:95496
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum...	OMIM:615398
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em...	ORPHA:436
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Cu...	OMIM:269300
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal...	OMIM:609616
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral...	OMIM:610682
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame...	OMIM:600955
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Decreased fertility, Hypogonadism, High palate, Abnormal metacarpal ...	ORPHA:2233
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patel...	ORPHA:2958
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Pectus excav...	OMIM:617877
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Thin ribs, High palate, Lam...	OMIM:616294
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormal...	ORPHA:93160
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Carious teeth, Cryptorchidi...	ORPHA:96097
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, S...	OMIM:210600
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Elbow dislocation, M...	ORPHA:93329
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o...	OMIM:600002
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi...	ORPHA:1143
Dysspondyloenchondromatosis	Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu ...	ORPHA:85198
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia...	ORPHA:2370
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Bronchiectasis	OMIM:241600
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Micrognathia, High palate, Phocomelia, Short metacarpal,...	ORPHA:3404
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ...	OMIM:620099
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Pituit...	ORPHA:199299
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S...	OMIM:263750
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Micromelia, Humeroradial synostosis,...	OMIM:251230
Moebius Syndrome	Respiratory distress, Micrognathia, High palate, Lower limb undergrowth, Short phalanx of finger,...	OMIM:157900
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Mic...	OMIM:234250
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperost...	ORPHA:3416
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ...	OMIM:271650
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me...	OMIM:609324
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h...	OMIM:200980
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis, Increased bone mineral density	OMIM:615198
48,Xxyy Syndrome	Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal dental enamel morph...	ORPHA:10
48,Xyyy Syndrome	Pes planus, Abnormal foot morphology, Asthma, Thick lower lip vermilion, Irregularly spaced teeth...	ORPHA:99329
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Cryptorchidism,...	OMIM:134780
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bon...	OMIM:608154
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Precocious puberty, Short toe, Asthma, Retrognathia, Cone-shaped epiphyses of the pha...	OMIM:619269
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o...	OMIM:161200
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Carious ...	ORPHA:582
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin...	OMIM:269150
Fanconi Renotubular Syndrome 5	Genu valgum, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease...	OMIM:613986
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612463
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig...	ORPHA:2108
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e...	ORPHA:2092
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Small pituitary gland,...	OMIM:614880
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Carious teeth, Flexion contract...	OMIM:203550
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Long palm, Abnormality of the philtrum, Missing ribs, Aplas...	ORPHA:2759
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde...	OMIM:109400
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the od...	OMIM:184250
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	ORPHA:67045
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,...	OMIM:602271
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clino...	OMIM:616145
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormal rib morphology...	ORPHA:93298
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormal rib morphology, Abnorma...	ORPHA:1486
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Postnatal growth...	OMIM:620305
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High palate, Clino...	OMIM:266920
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short ...	ORPHA:198
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Cryptorchidism, Abnormal rib mo...	ORPHA:52
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne...	ORPHA:2495
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim...	ORPHA:763
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level...	OMIM:619073
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Hypoplastic facial bones, Overtubulated long b...	OMIM:619793
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly	OMIM:300934
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ...	OMIM:102370
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib...	ORPHA:798
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level	OMIM:618838
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, P...	ORPHA:97289
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di...	OMIM:615777
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari...	OMIM:253000
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff...	OMIM:614399
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Shprintzen-Goldberg Syndrome	Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pectus carinatum...	ORPHA:2462
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Bardet-Biedl Syndrome 16	Hypogonadism, Polydactyly, Respiratory distress	OMIM:615993
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Pierre-Robin sequence, ...	OMIM:619184
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly...	ORPHA:3098
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating h...	ORPHA:226313
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid pro...	OMIM:183900
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Reduced bone mineral density, Delayed ossification of carpal bones, Short femor...	OMIM:618392
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o...	ORPHA:85138
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal thorax morphology, Flared metaphysis, Dela...	OMIM:218400
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor...	ORPHA:254516
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Respiratory insufficiency, Bell-sha...	OMIM:615633
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Short stature, Crypto...	ORPHA:163976
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg...	ORPHA:93299
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Pectus carinatum, Knee dislocation, Shoulder dislocation, Narrow chest,...	OMIM:245600
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Pseudohyp...	OMIM:103580
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia...	OMIM:263520
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Precocious...	OMIM:620073
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hypoplasia of the odontoid process...	OMIM:184252
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen...	ORPHA:2519
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop...	OMIM:611717
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Micrognathia, Meta...	OMIM:616266
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull, P...	OMIM:609993
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange...	ORPHA:73230
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap...	OMIM:614592
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis mor...	ORPHA:177910
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Periosteal thickening of long tubular bones	OMIM:167100
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture...	ORPHA:263463
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Short stature, Adrenocorticotropin receptor defect, Adrenal...	OMIM:231550
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palat...	OMIM:613823
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia	OMIM:601357
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Hip subluxation, Pectus exca...	OMIM:618853
48,Xxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Abnormal dental enamel...	ORPHA:96263
Cdags Syndrome	Sagittal craniosynostosis, Cleft palate, Short ribs, Lambdoidal craniosynostosis, Short clavicles...	OMIM:603116
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Pectus excavatum, Carious teeth, Radioulnar synostosis, Abnormal pa...	ORPHA:3270
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci...	OMIM:300232
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn...	OMIM:618356
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Decreased circulating cortisol level	OMIM:618835
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Decreased circulating cortisol level	OMIM:618839
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste...	OMIM:265800
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:3082
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death	OMIM:314390
Larsen Syndrome	Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hypoplastic cervical ...	OMIM:150250
Satoyoshi Syndrome	Short stature, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Genu v...	ORPHA:3130
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Thoracolum...	OMIM:252500
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Short 4th metacarpal...	OMIM:619638
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D...	OMIM:255800
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Limb joint contracture, Hypogonadotropic hypogonadism, Short stature...	OMIM:612079
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Elevated circulating thyroid-stimulating hormone con...	OMIM:612462
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula...	OMIM:609325
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Abnormality of the thyroid gland, Thick lower lip ver...	ORPHA:2563
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,...	OMIM:260400
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Abnormality of the lower limb, Hy...	ORPHA:245
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Isolated Growth Hormone Deficiency, Type Iv	Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ...	OMIM:618157
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Gingival ...	ORPHA:508542
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial ...	OMIM:259770
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig...	ORPHA:2780
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Coxa vara, B...	ORPHA:1425
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Coxa valga, Avascular necrosis ...	ORPHA:1901
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Pectus excavatum, Micrognathia, Cleft palate, Ulnar...	ORPHA:949
49,Xxxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Abnormal dental enamel...	ORPHA:96264
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Coxa valga, ...	OMIM:617396
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint...	ORPHA:137834
Familial Anetoderma	Irregular dentition, Abnormal tibia morphology, Generalized joint laxity, High, narrow palate	ORPHA:228277
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency, Hamstring...	ORPHA:139396
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial...	OMIM:617088
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena...	ORPHA:199296
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Narrow ...	OMIM:264090
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Short stature, Cryptorchidism, Micropenis	OMIM:610125
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Multipl...	ORPHA:2645
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m...	ORPHA:1159
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, S...	OMIM:608799
Laron Syndrome	Limb undergrowth, Decreased serum insulin-like growth factor 1, Short long bone, Delayed menarche	OMIM:262500
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Camptodactyly of finger, ...	ORPHA:1327
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am...	OMIM:202010
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas...	ORPHA:11
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Renpenning Syndrome	Mandibular prognathia, Diabetes mellitus, Macrodontia, Joint stiffness, Pectus excavatum, Abnorma...	ORPHA:3242
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, P...	OMIM:212112
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly	ORPHA:221054
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Pectus excavatum, Cryptorchidism, Narrow philtr...	ORPHA:163654
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyl...	ORPHA:672
Mycetoma	Abnormality of the knee, Prominent superficial veins, Osteomyelitis, Abnormality of the hand, Str...	ORPHA:2583
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, P...	OMIM:612847
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab...	ORPHA:2050
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appearance, Micromelia,...	ORPHA:1318
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Carious teeth, Cryptorch...	OMIM:214150
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ...	ORPHA:254531
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Cryptorchidism, Abnormal rib morphol...	ORPHA:1703
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck	OMIM:271630
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Thoracolumbar kyphoscoliosis, Craniosyno...	ORPHA:1299
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Tall stature, Elevated cir...	ORPHA:300373
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse...	ORPHA:93352
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Palmoplantar cutis laxa	OMIM:229200
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Hypothyro...	ORPHA:221008
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Prematurely aged ...	ORPHA:2067
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog...	ORPHA:3301
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	OMIM:619476
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, Short foot, Intrauterin...	ORPHA:254525
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla...	ORPHA:2232
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Talipes, Postaxial polydactyly...	OMIM:619879
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Fibu...	OMIM:605274
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Hypoplastic frontal sin...	OMIM:253250
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Cranioectodermal Dysplasia 2	Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, ...	OMIM:613610
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e...	ORPHA:485
46,Xx Gonadal Dysgenesis	Osteopenia, Premature ovarian insufficiency, Streak ovary, Short stature, Arachnodactyly, Increas...	ORPHA:243
Pituitary Gigantism	Premature pubarche, Tall stature, Elevated circulating growth hormone concentration, Hyperhidrosi...	ORPHA:99725
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver...	ORPHA:370930
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Choanal Atresia	Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom...	ORPHA:137914
Noonan Syndrome 12	11 pairs of ribs, Pectus excavatum, Decreased response to growth hormone stimulation test, Proxim...	OMIM:618624
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cleft palate, Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, A...	ORPHA:163649
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i...	ORPHA:2965
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Laron Syndrome	Delayed eruption of teeth, Prematurely aged appearance, Micrognathia, Abnormality of the endocrin...	ORPHA:633
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexte...	ORPHA:544503
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener...	ORPHA:53
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r...	ORPHA:3015
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Orofacial cleft, Po...	ORPHA:17
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phalanx of fing...	ORPHA:221016
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Primary adrena...	ORPHA:95409
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, High palate, Barrel-shaped chest, Hypoplasia of the...	OMIM:226980
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Hypothalamic hamartoma, Abnor...	ORPHA:649929
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Limitation of joint mobility, Abnormal ...	ORPHA:3068
Temple Syndrome	Hypertriglyceridemia, Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, ...	OMIM:616222
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Mandibular pr...	OMIM:615222
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Abnormality of the d...	ORPHA:2801
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchidism, Pectus ...	ORPHA:171839
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level	OMIM:611489
Giant Axonal Neuropathy	Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ...	ORPHA:643
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio...	OMIM:619322
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly...	OMIM:305600
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi...	ORPHA:93271
Late-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556037
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Caudal Regression Syndrome	Maternal diabetes, Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology,...	ORPHA:3027
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Braddock Syndrome	Neonatal respiratory distress, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Missing...	ORPHA:52047
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Genu valgum, Wide mouth, Joint hypermobility	OMIM:617798
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion ...	OMIM:263210
Tetrasomy 5P	Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Lo...	ORPHA:3309
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98754
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Increased overbite, Camptodactyly, To...	OMIM:618761
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Neuralgic Amyotrophy	Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Acrocy...	ORPHA:2901
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Pectus carinatum, High palate, Widely spaced teeth, Advanced eruption ...	ORPHA:192
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Dental crowding, Progeroid fac...	OMIM:608612
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,...	OMIM:612921
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Panner Disease	Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi...	ORPHA:97336
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel...	ORPHA:1133
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Hypo...	OMIM:611174
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase...	OMIM:219080
Infantile Systemic Hyalinosis	Osteopenia, Telangiectasia of the skin, Osteomalacia, Camptodactyly of finger, Recurrent fracture...	ORPHA:2176
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos...	ORPHA:508488
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Early-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556030
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased circulating cortisol ...	OMIM:615830
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High...	OMIM:611209
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ...	ORPHA:3455
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
Thoracopelvic Dysostosis	Neonatal respiratory distress, Short ribs	OMIM:187770
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in...	OMIM:619632
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Chitayat Syndrome	Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br...	OMIM:617180
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98793
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En...	OMIM:208230
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Hypoparathyroidism, Respiratory distress, Micromelia, Adducted thumb, Abnormal ...	ORPHA:50810
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction	ORPHA:36412
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased...	OMIM:173100
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Femoral bowing, Inc...	OMIM:609220
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Macroglossia...	ORPHA:500095
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognath...	OMIM:220210
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177904
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Oligodontia, Thoracic kyphosis, Short 5th fi...	ORPHA:557003
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,...	OMIM:113300
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int...	ORPHA:98914
Congenital Myasthenic Syndrome	Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int...	ORPHA:590
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa...	ORPHA:79644
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177901
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Toe syndactyly	ORPHA:217377
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia	OMIM:620306
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal sclerosis, Abnorma...	ORPHA:2905
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Lower limb asymmetry...	ORPHA:99330
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic...	OMIM:217980
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Pectus excav...	OMIM:606851
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Prec...	ORPHA:2588
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contract...	ORPHA:800
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate...	ORPHA:2712
Kuskokwim Syndrome	Abnormal clavicle morphology, Talipes, Joint stiffness, Aplasia/Hypoplasia of the patella, Aplasi...	ORPHA:1149
Prader-Willi Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:739
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl...	ORPHA:2257
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hi...	ORPHA:2180
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro...	ORPHA:2980
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Thin upper lip vermilion, Ectodermal dysplasia, Palmoplantar keratoderma, Enamel hypo...	OMIM:613576
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Pes planus, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Cryp...	OMIM:619293
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint laxity, Microretrognathia, High palate, Short clavicles, Short 4th metacarpal	OMIM:606220
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P...	OMIM:215150
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,...	OMIM:613390
Precocious Puberty, Central, 1	Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev...	OMIM:176400
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Tarp Syndrome	Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Single transverse ...	ORPHA:2886
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Short thorax, Talipes equinovarus	OMIM:618845
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta...	OMIM:300990
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Cr...	ORPHA:96184
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Isosexual precocious puberty, Metap...	ORPHA:2788
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Reduced subcutaneous adipose tissue, Dental crowding, Down-sloping shoulders, Coxa va...	OMIM:248370
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia...	OMIM:226650
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Respiratory insufficiency, Sh...	OMIM:224410
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide mouth, Deep...	ORPHA:1517
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Hyperthyroidism, ...	ORPHA:488632
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib...	ORPHA:1163
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f...	OMIM:601957
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis...	ORPHA:667
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Abnormal finger morphology,...	ORPHA:896
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur...	ORPHA:398079
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Difference Of Sex Development-Intellectual Disability Syndrome	Short thorax, Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Thin vermil...	ORPHA:2983
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Netherton Syndrome	Recurrent respiratory infections, Emphysema, Asthma	ORPHA:634
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Joint stiffness, Thick lower lip vermilion, Genu valgum, Macrogl...	ORPHA:583
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Respiratory insufficiency, Missing ribs	ORPHA:1759
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ...	OMIM:617022
Mucolipidosis Iii Gamma	Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Pectus carinatum, Genu ...	OMIM:252605
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Exaggerated me...	OMIM:312870
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Mic...	OMIM:311900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Elevated circul...	ORPHA:439822
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb	ORPHA:89844
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Deformed humerus, Mandibular cond...	ORPHA:2975
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal rib morphology, Small hand, Spina bifida occulta, Short foot, Retrognathia, ...	ORPHA:488434
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly...	ORPHA:2229
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the 5th finger, Lon...	OMIM:614407
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Apnea, Micrognathia, Hypoplastic ilia, Cryptorchidism...	ORPHA:85201
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Micrognathia, Knee flexion c...	ORPHA:284417
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Lower limb asymmetry, Crowded maxillary incisors, Cryptorc...	ORPHA:2063
Auriculoosteodysplasia	Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,...	ORPHA:114
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Cervical C2/C3 vertebral fus...	ORPHA:2345
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
3C Syndrome	Finger syndactyly, Adrenal hypoplasia, Missing ribs, Micrognathia, High, narrow palate, Orofacial...	ORPHA:7
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kypho...	ORPHA:508498
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Septooptic Dysplasia	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:182230
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Neonatal respiratory distress, Rocker bottom foot, Micrognathia, Flexion contra...	OMIM:618947
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo...	ORPHA:740
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Gingival overgrowth, Gingival fibromatosis, Respirat...	ORPHA:1832
Enlarged Parietal Foramina	Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Osteoporosis, Hypogonad...	ORPHA:73272
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Dyspnea, Osteoporosi...	ORPHA:363705
Dystonia 28	Precocious puberty, Hypothyroidism, Clinodactyly of the 5th finger, Short stature	ORPHA:589618
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Retrognathia, W...	ORPHA:2707
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Abnormal rib morphology, Gingival overgrowth...	ORPHA:1834
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper ...	ORPHA:64755
Meier-Gorlin Syndrome 4	Emphysema, Patellar aplasia	OMIM:613804
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema, Arachnodactyly	OMIM:219100
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal...	OMIM:619356
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ...	OMIM:610910
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Ankyloglossia, Bra...	OMIM:602361
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe...	ORPHA:181
Müllerian Aplasia And Hyperandrogenism	Short stature, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ...	ORPHA:247768
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Cryptorchidism...	ORPHA:3304
Dravet Syndrome	Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Prader-Willi Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	OMIM:176270
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa...	OMIM:619736
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, High iliac wing,...	ORPHA:50814
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join...	ORPHA:1147
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi...	OMIM:300484
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus ca...	OMIM:619383
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Chikungunya	Epistaxis, Joint stiffness, Periostitis, Erythema, Ankle joint effusion, Osteolysis, Synovitis, E...	ORPHA:324625
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Joint stiffness, Carious teeth, A...	ORPHA:93
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Short stature, Pre...	ORPHA:356961
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Long philtrum, High palate, Talipes equ...	OMIM:616354
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Pectu...	OMIM:615349
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacru...	OMIM:614813
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, Cry...	OMIM:617164
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones...	OMIM:610442
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Cleft palate, W...	OMIM:614607
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Ectoderma...	OMIM:613573
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Thick vermilion bo...	OMIM:619980
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat...	OMIM:614753
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Temporomandibular joint...	OMIM:614669
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar...	OMIM:122470
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature	ORPHA:3000
Mandibuloacral Dysplasia	Dental crowding, Increased subcutaneous truncal adipose tissue, Micrognathia, Abnormal tongue mor...	ORPHA:2457
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Pectus excavatum, Metaphyseal widening, Flexion contracture, Clubbing, Recu...	OMIM:617303
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Pes planus, Delayed eruption of teeth, Thin upper lip vermilion, Cariou...	OMIM:607812
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Growth delay, Gonadal dysgenesis, Hypogon...	ORPHA:3306
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m...	ORPHA:3079
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, S...	OMIM:231050
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Respiratory distress, Abnormality of thyroid physiology, Postaxial polydactyly, Tap...	OMIM:300968
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyr...	OMIM:614450
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Craniosynostosis, Ta...	OMIM:620005
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax, Arachnodactyly, Talipes equinovarus	OMIM:614816
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roo...	ORPHA:2976
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatos...	ORPHA:99646
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia	OMIM:226700
Stankiewicz-Isidor Syndrome	Hypospadias, Absent thumb, Cryptorchidism, Short thumb, 2-3 toe syndactyly, Pineal cyst, Shawl sc...	OMIM:617516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Clitoral...	ORPHA:398069
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular...	ORPHA:3342
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Emphysem...	ORPHA:289
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Thin upper lip vermilion, Rhizomelia...	ORPHA:319182
Craniosynostosis 4	Ectopic posterior pituitary, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosi...	OMIM:600775
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Precocious puberty,...	ORPHA:50
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib morphology,...	ORPHA:96061
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory failure...	OMIM:265120
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Short...	ORPHA:2311
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret...	OMIM:616113
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets	ORPHA:2088
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Short stature, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Posterior pitui...	ORPHA:75389
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Genu varum...	OMIM:271510
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Decreased response to growth hormone stimulatio...	ORPHA:1855
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Farber Disease	Respiratory distress, Abnormality of the knee, Abnormality of the hand, Abnormal foot morphology,...	ORPHA:333
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Absent Achilles reflex, Plantar flexion contractur...	OMIM:620011
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Decreased response to growth hormone st...	OMIM:617784
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Triceps weakness, Weakness ...	ORPHA:98913
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata...	ORPHA:453533
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Flaring of lower rib cage, Hypoplasia of the odontoid proces...	OMIM:250250
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contra...	OMIM:608149
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Tapered finger, Micrognathia, Carious teeth, Trismus, Narrow mouth, Elbow...	OMIM:272430
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microdontia, Disl...	ORPHA:2044
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d...	ORPHA:769
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru...	ORPHA:1794
Coffin-Siris Syndrome 3	Joint laxity, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Del...	OMIM:614608
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Accessory oral frenulum, H...	OMIM:258860
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog...	ORPHA:1120
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil...	ORPHA:314655
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Shield ches...	OMIM:313400
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Scarf Syndrome	Craniosynostosis, Cryptorchidism, Pectus carinatum, Joint hyperflexibility, Short sternum, Long p...	ORPHA:3134
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca...	ORPHA:97287
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sandal gap, Malar flattening, Long fingers, Dyspnea, Limitation of joint mo...	ORPHA:261279
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Pes planus, Mandibular prognathia, Macrodontia, Thoracolumbar kyphoscoliosis, Proxima...	OMIM:212066
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parath...	OMIM:617994
Short Syndrome	Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Prominent superficial veins, Microgn...	OMIM:269880
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Diastema, Open bite, Genu valgum, Hip dysplasia, Broad ribs, Wid...	OMIM:619698
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Cryptorchidism, Short finger, Acrocyanosis, Decreased testicular size	ORPHA:1867
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, ...	ORPHA:476126
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Gingival bleeding, Bruising susceptibility, Decreased testicular s...	ORPHA:335
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture, Shoulder girdle muscle weakness, Type I diabet...	ORPHA:2596
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Premature loss of primary...	ORPHA:2907
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, M...	ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum	OMIM:618825
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Pectus excavatum, Cryptorchidism, Submucous cleft hard palate, Genu ...	ORPHA:1340
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease...	ORPHA:747
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Phosphoribosylaminoimidazole Carboxylase Deficiency	Missing ribs, Bilateral cryptorchidism, Talipes equinovarus, Neonatal death, Clinodactyly of the ...	OMIM:619859
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
Mgat2-Cdg	Osteopenia, Respiratory distress, Dental crowding, Pectus excavatum, Abnormality of the endocrine...	ORPHA:79329
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Cryptorchidism, Oral ulcer, Redu...	OMIM:617052
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Cleft upper lip, Flexion contracture, Cleft palate, Increased sus...	OMIM:312150
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Do...	ORPHA:79500
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad palm, Narrow palate, Broad ph...	OMIM:277600
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Limitation of joint mobility, Abnormal rib...	ORPHA:93473
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Crackles, Dyspnea, Premature graying of hair, Clubbing of fingers, Cough, Decreased DLCO	OMIM:614742
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Short stature, Sandal gap, Precocious pubert...	ORPHA:813
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High...	ORPHA:2751
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Micrognathia, Pectus excavatum, Long fingers, High, narrow palate, Pre...	ORPHA:96092
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Progeroid facial appearance, P...	ORPHA:2962
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fusion, Spina bi...	ORPHA:1797
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypothyroidism,...	OMIM:609053
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow...	ORPHA:254528
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Joint stiffness, Micrognath...	ORPHA:1300
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Precocious puberty, Long fingers, Osteoporosis, Hip dislocation, Growt...	ORPHA:447980
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Abnormality of the endocrine system, Cough, Osteo...	ORPHA:228123
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal clavicle morphology, Abnormal dental morph...	ORPHA:568
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Papillary thyroid carcinoma, Prolonged neonatal ...	OMIM:118450
Cornelia De Lange Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, Downturned corners of mouth, Widely spaced...	ORPHA:199
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hypertriglyce...	ORPHA:528
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxem...	OMIM:181000
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Cutis marmorata, Single transverse palmar crease, Velophary...	OMIM:614701
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Emphysema, Abnormality of the pulmonary artery, Hypertriglyceridemia	ORPHA:363618
Pituitary Hormone Deficiency, Combined, 3	Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:221750
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Large...	OMIM:157980
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia	ORPHA:79107
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Joint stiffness, Metatarsus adductus, Thoracolumbar kyphosis, Pectus excavatum, F...	OMIM:253220
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Talipes, Rhizomelia, Narrow chest	OMIM:617661
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Thick upper lip vermilion, Thick lower lip vermilion, Br...	OMIM:619727
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia...	ORPHA:79255
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Recurrent pneumonia,...	OMIM:612301
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor...	ORPHA:2834
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat...	ORPHA:171430
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H...	OMIM:619148
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, 4-5 finger syndactyly, Ena...	OMIM:164200
Dietary Iron Overload Disease	Diabetes mellitus, Abnormal thyroid morphology, Abnormal pancreas morphology, Osteoporosis, Incre...	ORPHA:139507
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Congenital hip dislocation, De...	ORPHA:96170
Ppoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t...	ORPHA:97278
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High...	OMIM:278250
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus	ORPHA:280195
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Tapered finger, Small hand, Type II diabetes mellitus, Short clavicles	ORPHA:401923
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger...	ORPHA:464
Sotos Syndrome	Joint laxity, Pes planus, Mandibular prognathia, High, narrow palate, Cryptorchidism, Long metaca...	OMIM:117550
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Cutis Laxa, Autosomal Recessive, Type Ic	Sandal gap, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Pe...	OMIM:613177
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac...	ORPHA:3310
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow...	OMIM:123790
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsuline...	OMIM:262190
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Cleft palate, Increased susceptibility to fr...	OMIM:253290
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Micrognathia, Cong...	OMIM:615042
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Maternal diabetes, Short thumb, Abnormal thorax morp...	ORPHA:1708
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Cryptorchidism, Broad fingertip, Sma...	ORPHA:2896
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Deep ...	OMIM:610536
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Abnormal fingertip morphology, ...	ORPHA:90154
Fanconi Anemia, Complementation Group P	Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius	OMIM:613951
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa vara,...	ORPHA:2848
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Scarf Syndrome	Barrel-shaped chest, Cryptorchidism, Pectus carinatum, Short sternum, Lambdoidal craniosynostosis...	OMIM:312830
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mandibular prognathia, Thickened ribs, Pneumonia, Craniosynostosis, Joi...	ORPHA:309282
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Sandal gap, Emphysema, Patellar aplasia, Short middle phalanx o...	OMIM:616835
Dystonia-Deafness Syndrome 1	Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip	OMIM:607371
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97283
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Pectus carinatum, Reduced bone mineral d...	ORPHA:828
Restrictive Dermopathy 1	Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Flexion contracture, Overt...	OMIM:275210
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym...	ORPHA:97261
Naegeli-Franceschetti-Jadassohn Syndrome	Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma...	ORPHA:69087
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Micrognathia, High, narrow palate, T...	ORPHA:75857
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Downturned corners of mout...	OMIM:616268
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Arachnodactyly, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal...	ORPHA:436003
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Rubinstein-Taybi Syndrome 1	Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans...	OMIM:180849
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Clubbing of fingers, Elevated pulmonary ar...	ORPHA:199241
Harrod Syndrome	Arachnodactyly, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Joint hyperfle...	ORPHA:2115
Isolated Right Ventricular Hypoplasia	Cyanosis, Dyspnea, Clubbing, Pedal edema, Hypoxemia	ORPHA:439
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:231720
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov...	OMIM:616738
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Dental malo...	OMIM:618727
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Lar...	OMIM:246200
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Malar flattening, Tapered finger, Precocious puberty, Cleft lip, Hip dislocation, Cle...	OMIM:301066
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon...	ORPHA:2038
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Short metatarsal,...	OMIM:608328
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Poor woun...	ORPHA:230851
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion...	ORPHA:2671
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Reduced forced vital capacity,...	OMIM:613686
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Over...	OMIM:619708
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Jacobsen Syndrome	Missing ribs, Pectus excavatum, Micrognathia, Cryptorchidism, Flexion contracture, Clinodactyly o...	OMIM:147791
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e...	ORPHA:2990
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Precocious pubert...	ORPHA:254346
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Pectus excavatum, Bilateral cleft lip and palate, High palate, Macroorc...	OMIM:618874
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Hydrocele testis, High palate, ...	ORPHA:79330
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema	ORPHA:357074
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe...	ORPHA:371428
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi...	ORPHA:98915
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Bilateral cryptorchidism, L...	OMIM:617746
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m...	ORPHA:329178
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Malar prominence, Abnormality of...	ORPHA:231226
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic...	OMIM:617159
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphyses, Short th...	OMIM:245150
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Toe syndactyly, Tented upper lip vermilion, Delayed eruption o...	ORPHA:819
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u...	OMIM:304050
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ...	ORPHA:2970
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Shwachman-Diamond Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Sinusitis, Decreased response to growth hor...	ORPHA:811
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Premature ovarian insufficiency, Tapered ...	ORPHA:96201
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Precocious puberty, Abnormal toe morphology, Abno...	OMIM:163200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H...	ORPHA:480880
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Diabetes mellitus, Acroosteolysis of distal phalanges (feet)...	ORPHA:280365
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles	OMIM:168550
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Telangiectasia of the skin, Carious teeth, Dyspnea, Flexion contracture, Osteolysis,...	ORPHA:220393
Ramon Syndrome	Delayed eruption of teeth, Diabetes mellitus, Telangiectasia of the skin, Abnormal dental enamel ...	ORPHA:3019
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Single transverse palmar crease...	OMIM:610253
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Respiratory distress, Broad hallux, Sandal gap, Single tr...	ORPHA:404448
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Neuroendocrine Neoplasm Of Appendix	Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Increased serum serot...	ORPHA:100079
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, Hypoxemia, Emphysema, Addu...	ORPHA:284979
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Brachydactyly, Micromelia, Precocious puberty, Disproportionate short stature, Coxa vara, Joint h...	ORPHA:2637
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Prematurely aged appeara...	ORPHA:33364
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Woolly Hair Nevus	Precocious puberty, Brachydactyly	ORPHA:79414
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Smooth philtrum, Sandal gap, Carious teeth, Small hand, 2-3 toe syndac...	OMIM:619229
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough	ORPHA:77260
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Short stature, Small hand, Pineal cyst, Short foot	OMIM:618885
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs	OMIM:122600
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Kbg Syndrome	Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c...	OMIM:148050
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97280
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Micrognathia, Absent frontal sinuses, Cryptorchidism, Osteoporosis, Den...	OMIM:102500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly...	OMIM:129400
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly...	OMIM:264480
Esophageal Atresia	Respiratory distress, Cyanosis, Maternal diabetes, Cleft lip, Laryngotracheomalacia, Episodic res...	ORPHA:1199
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Fabry Disease	Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Abnormal femur morphology, Respiratory in...	ORPHA:324
Beta-Thalassemia Major	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Malar prominence, Abnormality of...	ORPHA:231214
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Retrognathia, Enamel hypoplasia, Postaxial polydactyly	OMIM:614576
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth	ORPHA:2760
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79405
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t...	ORPHA:581
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Thin ribs, High palate...	OMIM:300219
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, High palate, Sh...	OMIM:615866
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79411
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Erythema, Recurr...	OMIM:147060
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Palmar pits, Nar...	ORPHA:77301
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra...	OMIM:252940
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Missing ribs, Crypt...	ORPHA:2308
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Hip dislocation, Dental malocclusion, Cle...	OMIM:300867
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Mitten deformity, Enamel...	ORPHA:251393
Bilateral Perisylvian Polymicrogyria	Intrauterine growth retardation, Ectopic posterior pituitary, Flexion contracture, Distal arthrog...	ORPHA:98889
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Fragile skin, Cleft palate, Respirator...	ORPHA:158687
3Mc Syndrome	Craniosynostosis, Bilateral cryptorchidism, Hip dislocation, Orofacial cleft, Downturned corners ...	ORPHA:293843
Chromosome Xp11.23-P11.22 Duplication Syndrome	Precocious puberty, 2-3 toe cutaneous syndactyly	OMIM:300801
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the jaw	ORPHA:199276
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Enamel hypoplas...	ORPHA:79406
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Classical Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Abnormality of the temporomandibular joint, Prematurely aged appearance, ...	ORPHA:287
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Clef...	OMIM:257920
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Prematurely aged app...	OMIM:216400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Brachydactyly, Hypospadias, Decreased response to growth hormone stimulation test, Pr...	ORPHA:96182
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Short thumb, Cryp...	OMIM:603467
Trisomy 9P	Brachydactyly, Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mout...	ORPHA:236
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil...	OMIM:619777
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Rib fusion, Cleft palate, Hand polydactyly	ORPHA:261197
Alg12-Cdg	Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Sandal gap, Ulnar deviati...	ORPHA:79324
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art...	ORPHA:90349
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Apnea	OMIM:610992
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology...	ORPHA:50251
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Asthma, Split hand, Flexion contracture, Thick lower lip vermilion, Re...	OMIM:309900
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
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
3Mc Syndrome 2	Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Cleft upper lip, Cryptorc...	OMIM:265050
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Metatarsus adductus, Pectus...	OMIM:227330
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac...	ORPHA:3380
Microphthalmia, Syndromic 11	Agenesis of pineal gland	OMIM:614402
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Coxa valga, Micrognathia, Limita...	ORPHA:254519
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Rickets, ...	OMIM:309000
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Gingival overgrowth, Pectus carinatum, Femoral bowing, Abnormal rib cage m...	OMIM:248500
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, As...	ORPHA:444077
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:2136
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c...	ORPHA:83617
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Hyperparathyroidism, Neonatal Severe	Recurrent fractures, Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating parath...	OMIM:239200
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Arachnodactyl...	ORPHA:280
Basilicata-Akhtar Syndrome	Precocious puberty, Short foot, Short palm, Camptodactyly, Adducted thumb	OMIM:301032
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Cryptorchidism, Abnormal rib...	ORPHA:887
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Dyspnea, Osteolysis...	ORPHA:35687
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Cystinosis, Nephropathic	Male infertility, Diabetes mellitus, Metaphyseal widening, Rickets, Genu valgum, Primary hypothyr...	OMIM:219800
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob...	ORPHA:99106
Fg Syndrome Type 1	Limited elbow extension and supination, Finger syndactyly, Broad toe, Hypospadias, Progressive fl...	ORPHA:93932
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Narrow chest, Widely spaced teeth, Mic...	OMIM:618268
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Ulnar deviation of the hand, Rhizomelia, Micrognathi...	ORPHA:79328
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, R...	ORPHA:3412
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Neop...	ORPHA:231625
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutaneous finger synd...	OMIM:211380
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Cryptorchidism,...	OMIM:620025
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi...	ORPHA:818
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Apparent Mineralocorticoid Excess	Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Decrea...	ORPHA:320
9P13 Microdeletion Syndrome	Short stature, External genital hypoplasia, Joint stiffness, Precocious puberty, Abnormality of c...	ORPHA:324313
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Micrognathi...	OMIM:247200
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling,...	ORPHA:3260
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Tapered finger, Precocious puberty, Thick lower lip ve...	ORPHA:261652
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg...	OMIM:609029
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop...	OMIM:617063
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Joint laxity, Precocious puberty	ORPHA:457260
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys...	OMIM:616462
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Arachnodactyly, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatoglyphic ridge...	ORPHA:99413
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Mosaic Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatoglyphic ridge...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatoglyphic ridge...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatoglyphic ridge...	ORPHA:881
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Narrow mouth, Postaxi...	ORPHA:261112
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Bilateral cryptorchidism, Asthma, Rib fusion, Clinodactyly of the 5t...	ORPHA:544488
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple, Joint hypermobility	OMIM:619243
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f...	ORPHA:373
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Flexion contr...	OMIM:616271
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Cryptorchidism,...	ORPHA:1606
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp...	OMIM:620193
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Cyanosis...	ORPHA:51608
Joubert Syndrome 21	Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis	OMIM:615636
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplas...	ORPHA:73223
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Single transverse palmar crease, Small hand, Osteoporosis, Intrinsic hand m...	OMIM:615273
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Thoracic hypoplasia, Micrognathia, Ever...	OMIM:608013
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Abnormality of the lower limb, Rickets, Hypophosphate...	OMIM:193100
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Cutis marmorata, Short lower limbs, Bowing of the legs	OMIM:219250
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short lingual frenulum, Hypogonadotropic hypogonadism, Bilateral cryptorchi...	ORPHA:2326
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Hypothyroidism, Bifid uvula, Cleft ...	OMIM:607872
Aymé-Gripp Syndrome	Thin upper lip vermilion, Rocker bottom foot, Craniosynostosis, Tapered finger, Narrow mouth, Abn...	ORPHA:1272
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Calf muscle hypertrophy, Thigh hypertrophy, Cough, Triceps weakness	ORPHA:86812
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t...	ORPHA:137888
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, ...	OMIM:151100
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Talipes, Cleft upper lip, Abnormal soft...	ORPHA:138
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the thyroid gland, Abnormal rib morphology, Decreased fertility, Hypogonadism, Typ...	ORPHA:2234
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Cyanosi...	OMIM:306955
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Narrow palate,...	ORPHA:1555
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Thin vermilion border, Short philtrum, Micrognathia	ORPHA:261304
Marfan Syndrome	Arachnodactyly, Equinus calcaneus, Metatarsus adductus, Emphysema, Pneumothorax, Hammertoe, Campt...	OMIM:154700
Hypermobile Ehlers-Danlos Syndrome	Pes planus, Apnea, Abnormality of the dentition, Elbow dislocation, Abnormal foot morphology, Ost...	ORPHA:285
Optic Pathway Glioma	Precocious puberty, Growth delay	ORPHA:2086
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Anterior pituita...	OMIM:619841
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Micromelia, Elbow dislocation, Micrognathia, Cryptor...	ORPHA:99776
Autosomal Dominant Cutis Laxa	Bronchiectasis, Talipes equinovarus, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenos...	ORPHA:90348
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture, Thoracic kyphosis	OMIM:270200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Asthma, Recurrent pneumonia, Bronchiectasis, I...	OMIM:619752
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Hypoplasia of the ma...	ORPHA:2409
Shwachman-Diamond Syndrome 2	Anterior rib cupping, Metaphyseal widening, High palate, Metaphyseal irregularity, Genu varum	OMIM:617941
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala...	ORPHA:254864
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Sinusitis, Aplasia of the thymus, Anterior rib cupping, Pneumonia, Ho...	OMIM:102700
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Apnea, Protruding tongue	OMIM:619580
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Thoracic scoliosis, Knee contracture, Respiratory fa...	OMIM:620278
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h...	OMIM:209900
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Prematurely aged appearance, Delayed ...	OMIM:133540
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Marfan Syndrome	Pulmonary artery dilatation, Arachnodactyly, Emphysema, Spontaneous pneumothorax	ORPHA:558
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, S...	OMIM:229850
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Decreased fertility, Palmoplantar keratoderma, Hypodontia, Delayed pub...	ORPHA:1816
Sarcoidosis	Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe...	ORPHA:797
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S...	OMIM:614188
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Wheezing, Jaundice, Rickets	OMIM:211600
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne...	ORPHA:36238
Agnathia-Otocephaly Complex	Respiratory distress, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microgl...	OMIM:202650
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Episodic Ataxia Type 1	Hand clenching, Calf muscle hypertrophy, Respiratory distress	ORPHA:37612
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Limitat...	ORPHA:217085
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibular prognathia, Gingiv...	OMIM:135500
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia, Neonatal respiratory distress, Palmoplantar hyperkeratosis	OMIM:226670
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou...	OMIM:612776
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Limitat...	ORPHA:217093
Bile Acid Conjugation Defect 1	Jaundice, Rickets	OMIM:619232
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture	OMIM:616733
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central diabete...	ORPHA:293987
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Palmoplantar keratoderma, Oral mucosal blisters	ORPHA:79402
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Malaria	Respiratory distress	ORPHA:673
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Thyroiditis, Type I diabetes mellitus, Recurrent aphthous stomatitis, Infe...	OMIM:212750
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Succinic Acidemia	Respiratory distress	OMIM:600335
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Abnormality...	ORPHA:314621
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Progeroid facial appearance, Cryptorchi...	ORPHA:90322
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Tented ...	OMIM:601803
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo...	ORPHA:3353
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Thin upper lip vermilion, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty	ORPHA:293181
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Gingival ...	OMIM:301072
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Asthma, C...	ORPHA:330015
Breath-Holding Spells	Cyanosis	OMIM:607578
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Palmoplantar bl...	ORPHA:79410
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Overlapping toe	OMIM:617478
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress	OMIM:616974
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Palmoplantar keratoderma, Mitten deformity, Palmoplantar bl...	ORPHA:79409
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia	ORPHA:596
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l...	OMIM:612089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Osteoporosis, Rickets	OMIM:560000
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower li...	ORPHA:1465
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted...	OMIM:211530
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Hypothyroid...	OMIM:606170
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Tracheomalacia, Micrognathia, Posterior rib gap, Cleft palate, Bel...	ORPHA:1393
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Azoospermia, Sprengel anomaly	OMIM:601076
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Flexion contracture, R...	OMIM:617140
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Purpura	ORPHA:375
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty	OMIM:619877
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Progeroid facial appearance, Long f...	OMIM:256040
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Palmoplantar hyperkeratosis	ORPHA:363523
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Thin upper lip vermilion, Single transverse palmar crease, Asthma, Nasal flaring, Dow...	ORPHA:466943
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Natal tooth, Thin upper lip vermilion, Camptodactyly of fin...	OMIM:249000
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Narrow mouth, Flexion contracture, Mitten deformity, Enamel hypoplasia, Fr...	OMIM:226600
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty	OMIM:300958
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Hor...	OMIM:614857
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Hypothyroidism	ORPHA:213
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Snijders Blok-Campeau Syndrome	Joint laxity, Abnormal foot morphology, Taurodontia, High palate, Widely spaced teeth, Enamel hyp...	OMIM:618205
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ...	OMIM:157800
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st...	ORPHA:289494
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decreased r...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decreased r...	ORPHA:363958
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Single transverse palmar crease, Micrognathia,...	OMIM:223370
Dextrocardia	Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ...	ORPHA:100057
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Flexion...	OMIM:227645
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Pectus excavatum, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion b...	ORPHA:1519
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia	OMIM:240200
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar keratoderma, Palmoplantar hype...	ORPHA:2309
Japanese Encephalitis	Respiratory distress, Stiff neck, Genu recurvatum, Elbow flexion contracture, Distal upper limb m...	ORPHA:79139
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Thymoma, A...	ORPHA:227990
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Abnormality of cartilage of external ear, Submucous cleft hard pala...	ORPHA:3426
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Hyperhidrosis, Pheochromocytoma, Hemiatrophy, Hypophosphatemi...	ORPHA:2874
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovarus, Asp...	OMIM:618733
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Clinodactyly of the 5th finger, Abnormality of the pineal gland	ORPHA:369950
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Arachnodactyly, Supernumerary nipple, Precocious puberty, Cryptorchi...	OMIM:615485
Tularemia	Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion	ORPHA:3392
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Arachnodactyly, Absent thumb, Respiratory failure, Emphysema	ORPHA:500150
Tricuspid Atresia	Cyanosis	ORPHA:1209
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Joint stiffness	ORPHA:2400
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Talipes equinovarus, Femoral bowing	OMIM:615415
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal dental morphology, Delayed erupt...	ORPHA:191
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Tetanus	Respiratory distress, Trismus, Stiff neck, Tachypnea	ORPHA:3299
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Thoracic scoliosis, Thin upper lip vermilion, Broad hallux, Single t...	OMIM:620186
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Aspiration, Joint laxity, Syndactyly, Broad hallux, C...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Aspiration, Joint laxity, Syndactyly, Broad hallux, C...	ORPHA:353277
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Abnormality of the lower limb, Tachypn...	ORPHA:36234
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename...	ORPHA:139474
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Respiratory distress, Joint stiffness, Flexion contracture, Pectus carinatum...	ORPHA:505248
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Missing ribs, Cry...	OMIM:206900
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:615877
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Upper limb undergrowth, Secondary amenorrh...	ORPHA:529962
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Talipes equinovaru...	OMIM:617865
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Pes planus, Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Broad hallux, Dental crowding, Pneumonia, Avascular necrosis of the ca...	ORPHA:353281
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Congenital Diaphragmatic Hernia	Hypoxemia, Prominent sternum, Respiratory distress	ORPHA:2140
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Juvenile Polyposis Of Infancy	High, narrow palate, Clubbing of fingers, Midclavicular hypoplasia, Narrow mouth, Broad thumb, Su...	ORPHA:79076
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk...	OMIM:187300
Isolated Atp Synthase Deficiency	Hypogonadism, Hypothyroidism, Respiratory distress	ORPHA:254913
Radio-Tartaglia Syndrome	Precocious puberty, Brachydactyly, Tapered finger	OMIM:619312
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carcinoma, C...	ORPHA:142
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle weakness, Neonat...	ORPHA:169189
Viss Syndrome	Long toe, Arachnodactyly, Rocker bottom foot, Dyspnea, Asthma, Pneumothorax, Genu valgum, Talipes...	OMIM:619472
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency	OMIM:614299
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Precocious puberty, Cryptorchidism, Abnormal...	ORPHA:636
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Infertility, Ciliary dyskinesia	OMIM:606763
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Rickets, Prolonged neonatal jaundice	ORPHA:79303
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Progeroid facia...	ORPHA:90321
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C...	ORPHA:2369
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Bowing of the legs, Precocious puberty, Osteoporosis, Ost...	ORPHA:97685
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Supraumbilical raphe	OMIM:606893
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Hallux valgus, Cryptorchidism, Pineal cyst, Delayed puberty, Synostosis of the prox...	OMIM:300967
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Short stature, Precocious puberty, Cryptorchidism, Abnormality of the e...	ORPHA:438213
Truncus Arteriosus	Cyanosis, Tachypnea, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the extremit...	ORPHA:3384
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Craniosynostosis, Precocious puberty, Upper...	ORPHA:369837
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Peda...	ORPHA:97214
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Maternal diabetes	ORPHA:860
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Preaxial polydactyly	ORPHA:163681
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Inspiratory stridor, Irregular respiration	OMIM:604377
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Proximal placement of thumb, Micromelia, 2-3 toe cutaneous syndacty...	OMIM:270400
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252920
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic...	ORPHA:1435
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due...	OMIM:256810
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Arthritis, Cough, Acroc...	ORPHA:183
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Generalized abnormality of skin, Respiratory insuffici...	ORPHA:367
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology	ORPHA:2578
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Cleft palate, Supernumerary ribs, Malar flattening	OMIM:613309
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neoplasm of the scr...	ORPHA:370348
Bile Acid Synthesis Defect, Congenital, 1	Jaundice, Rickets	OMIM:607765
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Everted lower lip vermilion, Dense calvaria, Joint stiffness	OMIM:252930
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Cleft palate, Micrognathia	OMIM:606164
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252900
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Respiratory distress, Multiple joint contractures, Elevated ci...	ORPHA:79318
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism...	ORPHA:97285
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Block vertebrae, Rib fusion	OMIM:277300
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress	OMIM:620166
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Micrognathia, Pectus excavatum, Persistence of primary teeth, Abnormality of...	ORPHA:2785
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Cryptorchidism, Talipes equi...	OMIM:258040
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Ectodermal dysplasia, Oligodontia, Hypodontia	OMIM:601345
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Cleft palate, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnorma...	OMIM:118100
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Asthma, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia	OMIM:616029
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs	OMIM:615220
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acro...	ORPHA:343
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Small hand, ...	ORPHA:2322
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, L...	ORPHA:96191
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Gapo Syndrome	Prominent scalp veins, Micrognathia, Wide anterior fontanel, High, narrow palate, Thick lower lip...	OMIM:230740
Buerger Disease	Acrocyanosis	ORPHA:36258
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia	OMIM:617802
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Pedal edema	OMIM:152800
Spondylocostal Dysostosis 2, Autosomal Recessive	Restrictive ventilatory defect, Rib fusion	OMIM:608681
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism	ORPHA:77298
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia, Palmoplantar keratoderma, Facial erythema	OMIM:612843
Thauvin-Robinet-Faivre Syndrome	Pes planus, Bowing of the legs, Pedal edema, Macroglossia, Large hands, Thick vermilion border, L...	OMIM:617107
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Neonatal resp...	ORPHA:209905
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Wide anterior fontanel, Jaundice, Neonatal death	OMIM:231680
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra...	ORPHA:365
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Pro...	ORPHA:1546
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:206436
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia, Delayed puberty	ORPHA:447896
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Respiratory distress	OMIM:160900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth	ORPHA:990
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Decreased response to grow...	ORPHA:64
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, R...	ORPHA:416
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism	OMIM:615597
Stt3B-Cdg	Respiratory distress, Cryptorchidism	ORPHA:370924
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Diabetes mellitus, Short stature, Chronic pancreatitis, Pineal cyst	ORPHA:98908
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Livedo, Telangiectasia, Conical incisor, Facial telangiectasia, Enamel hypoplasia	OMIM:614564
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar...	ORPHA:438216
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Flexion contracture, Thin ribs	OMIM:614833
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Oromandibular Dystonia	Respiratory distress, Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:93958
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tongue, Ename...	ORPHA:79396
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Myasthenia Gravis	Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Rheumatoid a...	ORPHA:589
Tay-Sachs Disease	Precocious puberty, Abnormal thalamic MRI signal intensity, Gliosis, Limited knee extension, Limi...	ORPHA:845
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Rickets	OMIM:616026
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Hypothyroidism, Flushing, Joint laxity,...	ORPHA:821
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Metatarsus adductus, Osteopathia striata, Pineal cyst, Lower-limb joint contracture, Hip dysplasi...	ORPHA:513456
Gm1-Gangliosidosis, Type I	Thickened ribs, Joint stiffness, Gingival overgrowth, Angiokeratoma corporis diffusum, Hypoplasti...	OMIM:230500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer, Gout, Increased susceptibility to...	ORPHA:79259
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, High palate	OMIM:619272
Aicardi-Goutieres Syndrome 1	Diabetes insipidus, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Hypothyroidism, Petechia...	OMIM:225750
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Fragile skin, Oral mucosal blisters	OMIM:226730
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis	ORPHA:319213
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Rickets, Osteomalacia	OMIM:227810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Hyperthyroidism, Osteomyelitis, Pneumonia, Abnormality of the endocrine sys...	ORPHA:37042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Decreased circulating p...	OMIM:240300
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Respiratory insufficiency, Thin ribs	OMIM:615368
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Precocious puberty, Cryptorchidism, Reduced bone mineral density, Clinodactyly o...	OMIM:616682
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Cleft upper...	OMIM:309800
Criss-Cross Heart	Abnormal thorax morphology, Cyanosis, Respiratory insufficiency	ORPHA:1461
Wilson Disease	Hypoparathyroidism, Osteomalacia, Osteoarthritis, Jaundice, Osteoporosis, Pedal edema, Joint hype...	OMIM:277900
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth...	OMIM:305100
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Familial Dysautonomia	Acrocyanosis, Osteolysis, Recurrent fractures	ORPHA:1764
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Respiratory insufficiency	ORPHA:93941
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Opitz Gbbb Syndrome	Natal tooth, Craniosynostosis, Micrognathia, Cleft lip, Cryptorchidism, Cleft palate, Stridor, Hi...	ORPHA:2745
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete...	OMIM:617397
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Oculoectodermal Syndrome	Growth delay, Supernumerary nipple, Pineal cyst	OMIM:600268
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea	ORPHA:2348
Distal Renal Tubular Acidosis	Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility...	ORPHA:18
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Bilateral cryptorchidism, Eclabion, Cutaneous photosensitivity	OMIM:616395
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae	OMIM:602473
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fasciculations	OMIM:252010
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Primary Dystonia, Dyt4 Type	Respiratory distress, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Alexander Disease	Osteopenia, Diabetes mellitus, Precocious puberty, Hyperhidrosis, Hypothyroidism	ORPHA:58
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata	OMIM:259900
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Aspiration, Downturned corners of mouth, Sk...	ORPHA:2131
Q Fever	Respiratory distress, Osteomyelitis, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Ramos-Arroyo Syndrome	Respiratory distress, Carious teeth, Narrow mouth, Smooth tongue, Long philtrum	ORPHA:1051
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni...	ORPHA:449563
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins...	OMIM:615512
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Narrow chest, Bifid ribs, Sprengel anomaly...	ORPHA:1394
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal circulating calcium-phosphate regulating hormone concentratio...	ORPHA:2238
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Prematurely aged appearance, Premature loss of teeth, Enamel hyp...	OMIM:610965
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Osteomalacia	OMIM:600740
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Abnormal soft palate morphology, Dyspnea, Urticaria, Dermatog...	ORPHA:100050
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion	OMIM:261740
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Short stature, Tapered finger, Precocious puberty, Long fingers, Growth...	OMIM:619950
Tolchin-Le Caignec Syndrome	Precocious puberty, Arachnodactyly, Clinodactyly of the 5th finger	OMIM:618971
Fucosidosis	Hypothyroidism, Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition	ORPHA:349
African Trypanosomiasis	Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang...	ORPHA:3385
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Erythema, Respira...	ORPHA:2556
Early Infantile Epileptic Encephalopathy	Precocious puberty, Short finger, Broad finger, Micropenis, Broad phalanx of the toes	ORPHA:1934
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Chand Syndrome	Atelectasis, Short fifth metatarsal	ORPHA:1401
Rodrigues Blindness	Ectodermal dysplasia, Tooth malposition, Nasal flaring	OMIM:268320
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri...	ORPHA:2396
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Rectovaginal fistula	OMIM:608980
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus...	ORPHA:73263
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Pedal ede...	ORPHA:980
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Stomatitis, Pulmonary arterial hypertension, ...	ORPHA:79282
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Cleft palate, Cough	ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Listeriosis	Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Jaundice, Respiratory failure, Septic...	ORPHA:533
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea	OMIM:618426
Relapsing Polychondritis	Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough	ORPHA:728
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Diabetes mellitus, Abnormality of the dentition, Oligodontia, Microdontia	ORPHA:2315
Williams Syndrome	Osteopenia, Hypoplasia of penis, Clinodactyly of the 5th finger, Spina bifida occulta, Hypothyroi...	ORPHA:904
Infantile Nephropathic Cystinosis	Rickets, Abnormality of thyroid physiology	ORPHA:411629
Incontinentia Pigmenti	Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Supernumerary ribs, Hypodontia	OMIM:308300
Gitelman Syndrome	Respiratory distress, Maternal diabetes, Gout, Diabetic ketoacidosis, Type I diabetes mellitus, T...	ORPHA:358
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Enamel hypoplasia, Hypodontia, Jaundice, Oligodontia	OMIM:607626
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Immunodeficiency 49	Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Tuberous Sclerosis 1	Precocious puberty, Adenoma sebaceum, Hypothyroidism	OMIM:191100
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Ectodermal dysplasia, Abnormality of the endocrine system	OMIM:129550
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Pontine Tegmental Cap Dysplasia	Ankle clonus, Aspiration, Rib fusion	OMIM:614688
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Odontomicronychial Dysplasia	Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Ectodermal dysplasi...	ORPHA:1811
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Palmar hyperlinearity, Short philtrum, Cleft palate	OMIM:617337
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis, Hypogeusia	OMIM:223900
22Q11.2 Deletion Syndrome	Arachnodactyly, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hand ...	ORPHA:567
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Erythema, Cough	ORPHA:537
Aicardi-Goutières Syndrome	Multiple joint contractures, Cutis marmorata, Diabetes mellitus, Arthritis, Prolonged neonatal ja...	ORPHA:51
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu...	OMIM:167210
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Pneumonia, Oral ulcer, Bronchiectasis, Arthritis, Vasculitis in the ...	OMIM:619381
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Hypoplasia of the thymus	OMIM:243150
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea	ORPHA:2299
Cockayne Syndrome Type 3	Carious teeth, Flexion contracture, Premature graying of hair, Enamel hypoplasia, Cutaneous photo...	ORPHA:90324
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Tuberous Sclerosis 2	Precocious puberty, Adenoma sebaceum, Hypothyroidism	OMIM:613254
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Arthritis, Vasculitis in the skin, Acrocy...	ORPHA:48435
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Arthritis, Pulmona...	ORPHA:221
Double Outlet Left Ventricle	Cryptorchidism, Cyanosis, Tachypnea, Orofacial cleft	ORPHA:3427
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Dental crowding, Persistence of primary teeth	OMIM:619769
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Prostatitis, Pancreatitis	ORPHA:449395
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Plague	Respiratory distress, Chapped lip, Abnormality of the elbow, Acute infectious pneumonia, Arthriti...	ORPHA:707
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Res...	ORPHA:805
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Isolated Arrhinia	Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage	ORPHA:1134
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest...	OMIM:614748
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, Ce...	ORPHA:2255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Decreased testicular size	OMIM:615287
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Dental crowding, Delayed eruption of primary teeth, Widely spaced teeth, Hyperventilation	OMIM:617799
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice	OMIM:617156
Enamel-Renal Syndrome	Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ...	ORPHA:1031
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Digeorge Syndrome	Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis	OMIM:188400
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Familial Adenomatous Polyposis	Abnormality of the dentition, Abnormality of the thyroid gland, Supernumerary tooth, Pituitary ad...	ORPHA:733
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Familial Adenomatous Polyposis 1	Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Eruption failure, Odontoma, Small i...	OMIM:175100
Gardner Syndrome	Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary tooth, Odontoma, Multiple u...	ORPHA:79665
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p...	ORPHA:2250
Ramon Syndrome	Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia, J...	OMIM:266270
Pagod Syndrome	Abnormal clavicle morphology, Abnormal testis morphology, Abnormal rib morphology	ORPHA:991
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Mowat-Wilson Syndrome	Delayed eruption of teeth, Pectus excavatum, Cryptorchidism, Submucous cleft hard palate, Cleft p...	OMIM:235730
Leptospirosis	Respiratory distress, Pleural effusion, Jaundice, Cough	ORPHA:509
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Type I diabetes mellitus, Abnormality of the dentition	ORPHA:2036

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smpd3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smpd3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Neuronal deletion of nSMase2 reduces the production of Aβ and directly protects neurons.	Neurobiology of disease (January 2023)	Smpd3^{tm1c(EUCOMM)Hmgu} Smpd3^{tm1a(EUCOMM)Hmgu}	36603748
Stress induces major depressive disorder by a neutral sphingomyelinase 2-mediated accumulation of ceramide-enriched exosomes in the blood plasma.	Journal of molecular medicine (Berlin, Germany) (August 2022)	Smpd3^{tm1a(EUCOMM)Hmg}	PMC9470690

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Smpd3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smpd3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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