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Gene: Sox5 MGI:98367

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SRY (sex determining region Y)-box 5

Synonyms:

A730017D01Rik

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 Sox5 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 Sox5 (2 diseases)
Human diseases predicted to be associated with Sox5 (1247 diseases)

The table below shows human diseases associated to Sox5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lamb-Shaffer Syndrome		Pectus carinatum, Dental crowding, Clinodactyly, Long hallux, Overlapping toe, Open mouth, Long f...	OMIM:616803
Developmental And Speech Delay Due To Sox5 Deficiency		Pectus carinatum, Exaggerated median tongue furrow, Dental crowding, Thoracic kyphoscoliosis, 2-3...	ORPHA:313892

The table below shows human diseases predicted to be associated to Sox5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Diaphanospondylodysostosis	Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib...	ORPHA:66637
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Thoracopelvic Dysostosis	Neonatal respiratory distress, Short ribs	OMIM:187770
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Cardiorespiratory arrest, Micromelia, Absent vertebral body miner...	ORPHA:93296
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ...	OMIM:187601
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ...	OMIM:258850
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Long philtrum, Lateral clavicle hook, Respir...	OMIM:617895
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Respiratory insufficiency, Absent or minimally ossifi...	OMIM:600972
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th...	ORPHA:376
Chondrodysplasia, Blomstrand Type	Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short ribs, Generalized os...	OMIM:215045
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo...	OMIM:602196
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory insufficiency...	ORPHA:1145
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum	OMIM:618155
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Hip dislocation, Pectus carinatum, Long hallux, Hypoplastic iliac wing, Genu va...	OMIM:613330
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate r...	ORPHA:1801
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Narrow chest, Coarse metaphyseal trabecularization, Death in child...	OMIM:618961
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Genu valgum, Bell-shaped thorax, Short ribs...	ORPHA:1803
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Pectus excavatum, Abnormal palate morphology, Microdontia	ORPHA:1375
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Short ribs, Limb undergrowth...	OMIM:269250
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Micrognathia, Dyspnea, Cleft p...	ORPHA:141152
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Nar...	OMIM:228520
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Micrognathia, Sho...	OMIM:614524
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, High palate, Rocke...	OMIM:618393
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop...	OMIM:151210
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Respiratory distress, Camptodactyly of finger, Pectus excavatum, High ...	OMIM:614399
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Long philtrum, Micrognathia, Abnormal metacarpal morphology, Osteoarthritis, Pe...	ORPHA:166100
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Microglossia, Micromelia, Micrognathia, Death in infa...	OMIM:241800
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Thora...	ORPHA:2752
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Gingival overgrowth, Median cleft palate, Micrognathia, Mandibular aplasia,...	ORPHA:1832
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Generalize...	ORPHA:1423
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Respiratory distress, Joint hypermobil...	ORPHA:2759
Congenital Myopathy 4B, Autosomal Recessive	Respiratory insufficiency, Flexion contracture, Pectus excavatum, High palate	OMIM:609284
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Neonatal respiratory distress, Narrow chest, ...	OMIM:187600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Three M Syndrome 1	Short 5th finger, Neonatal respiratory distress, Slender long bone, Long philtrum, Thick lower li...	OMIM:273750
Congenital Myopathy 14	Elbow flexion contracture, Apnea, Knee flexion contracture, Hip contracture, Death in infancy, Hi...	OMIM:618414
16P11.2P12.2 Microduplication Syndrome	Pectus excavatum, Cleft palate	ORPHA:261204
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Broad long bones, Clubb...	ORPHA:1865
Poland Syndrome	Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Unilateral brachydactyly, Synd...	OMIM:173800
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of the dentition, ...	OMIM:241500
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Bone Dysplasia, Lethal Holmgren Type	Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Broad long...	OMIM:224400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Orofacial c...	OMIM:615630
Tarp Syndrome	Meckel diverticulum, Clinodactyly, Micrognathia, Glossoptosis, Neonatal death, Postaxial polydact...	OMIM:311900
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Resp...	OMIM:616300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Joint stiffness, Overlappi...	OMIM:618167
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Triangular mouth, Cutaneous syndactyl...	ORPHA:166024
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Genu valgum, Bell-shaped thorax, Micrognathia, Bilateral cleft pa...	ORPHA:56304
Spondylometaphyseal Dysplasia, X-Linked	Pectus carinatum, Short finger, Respiratory insufficiency, Sclerosis of skull base, Knee flexion ...	OMIM:313420
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado...	OMIM:619751
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Clinodactyly, Smooth philtrum, Everted lower lip vermilion, Thin vermilion border, Pectus excavat...	ORPHA:73273
Succinic Acidemia	Respiratory distress	OMIM:600335
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased...	OMIM:259440
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decreased fibular diame...	OMIM:616897
Eng-Strom Syndrome	Pectus excavatum, Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Acropectoral Syndrome	Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb...	OMIM:605967
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal mor...	ORPHA:3104
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bowing, Ho...	OMIM:613091
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Thoracic hypoplasia, Preaxial polydactyly, Intestinal malrotation, Micromelia, Mic...	OMIM:617866
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Prieto Syndrome	Abnormality of the dentition, Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Osteopo...	OMIM:309610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions...	OMIM:250420
Usmani-Riazuddin Syndrome, Autosomal Recessive	Pectus excavatum, High palate, Joint hypermobility	OMIM:619548
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip, Shield chest, Pectus excavatum, Thoracic scoliosis	OMIM:616994
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Cranioectodermal Dysplasia	Short distal phalanx of finger, Abnormality of the dentition, Narrow chest, Rhizomelia, Finger sy...	ORPHA:1515
X-Linked Intellectual Disability, Abidi Type	Pectus excavatum, Non-midline cleft of the upper lip, Cleft palate	ORPHA:85273
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Anodontia, Oligodontia, Everted lower lip vermilion, Pectus excavatum, Tapered ...	ORPHA:276630
Congenital Arthrogryposis With Anterior Horn Cell Disease	Micrognathia, Neonatal death, Hip dysplasia, High palate, Rocker bottom foot, Arthrogryposis mult...	OMIM:611890
Odontochondrodysplasia	Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Delayed erupt...	ORPHA:166272
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, N...	OMIM:224690
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Chromosome 3Q29 Deletion Syndrome	Pectus carinatum, Thin upper lip vermilion, Long fingers, Clinodactyly of the 5th finger, Short p...	OMIM:609425
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses, Micromelia, S...	OMIM:608728
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Scarf Syndrome	Pectus carinatum, Long philtrum, Joint hypermobility, Short sternum, Enamel hypoplasia, Hypocalci...	ORPHA:3134
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, R...	OMIM:135100
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cyanosis	OMIM:263000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Cleft lip, Hamartoma of ton...	OMIM:617925
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Pectus excavatum	OMIM:609384
Short Stature And Facioauriculothoracic Malformations	Pectus carinatum, Cleft upper lip, Cervical ribs, Pectus excavatum, High palate, Cleft palate	OMIM:609654
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ...	OMIM:300717
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Gingival overgrowth, Micrognathia, Pec...	ORPHA:2013
Osteogenesis Imperfecta, Type Xix	Osteopenia, Dentinogenesis imperfecta, Pectus carinatum, Rhizomelia, Bowing of the arm, Joint hyp...	OMIM:301014
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Radioulnar synostosis, P...	ORPHA:3270
Thoraco-Abdominal Enteric Duplication	Respiratory insufficiency, Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Mi...	ORPHA:1759
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Respiratory distress, Femoral ...	OMIM:100800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Anterior ...	OMIM:271665
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr...	OMIM:614669
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Respiratory distress, High palate, Arachnodactyly, Multip...	OMIM:271225
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Cervical ribs, Intestinal malrotation, Micrognathia, Orofacial cleft, Deep philtrum, Incomplete c...	ORPHA:77300
Hyperekplexia 4	Distal arthrogryposis, Adducted thumb, High palate, Camptodactyly, Flexion contracture, Respirato...	OMIM:618011
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Apnea, Micrognathia, Glossoptosis...	ORPHA:2886
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Downturned corners of mouth, High palate, Pectus excavatum, Short philtrum, Tapered finger	ORPHA:85280
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h...	OMIM:216300
Intermediate Nemaline Myopathy	High, narrow palate, Long philtrum, Abnormal thorax morphology, Multiple prenatal fractures, Flex...	ORPHA:171433
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol...	ORPHA:2839
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Non-Distal Duplication 10Q	Micrognathia, Joint hypermobility, Everted lower lip vermilion, Pectus excavatum, High palate	ORPHA:1695
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Tooth malposition, Pathologic fracture, Micrognathia, Knee flexi...	OMIM:156400
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Broad clavicles, Abnormal epiphysis...	ORPHA:50945
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus carinatum, Stillbirth, Bowing of limbs due to multiple fractures, Decreased calvarial ossi...	OMIM:259410
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Short toe, Respiratory insufficien...	OMIM:269860
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Neonatal respiratory distress, Respiratory insufficiency, 11 pairs of ribs, Micrognathia, Glossop...	OMIM:618356
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency	OMIM:616081
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog...	ORPHA:2519
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Respiratory insufficiency, Abnormal hip bone mor...	ORPHA:1488
Craniofrontonasal Dysplasia	Abnormality of the dentition, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Campto...	ORPHA:1520
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Irregular dentition, Death in childhood, Bullet-shaped middle...	OMIM:602535
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Fibular hypoplasia, Short ribs,...	ORPHA:3144
Ullrich Congenital Muscular Dystrophy	Slender finger, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Micr...	ORPHA:75840
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia, Micrognathia,...	ORPHA:3404
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Long philtrum, Barrel-sh...	OMIM:312830
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Thin upper lip vermilion, Perianal abs...	OMIM:614684
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Respiratory insufficiency, Irregular epiphyses, Hypoplastic iliac wing, Thoracic dy...	OMIM:208500
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Missing ribs, Short thorax, Posterior rib fusion, Cleft palate	ORPHA:1797
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Supernumera...	OMIM:619122
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Short sternum, Smooth philtrum, Thick vermilion border, Clinodactyly...	OMIM:620113
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs	ORPHA:156728
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, Congenital contracture, Respiratory distress, Micrognathia, Death ...	OMIM:615042
Developmental And Epileptic Encephalopathy 71	Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency	OMIM:618328
Diaphanospondylodysostosis	Tracheomalacia, Thoracic hypoplasia, Respiratory insufficiency, Respiratory distress, Bell-shaped...	OMIM:608022
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Narrow mouth, Microgn...	OMIM:201170
Cornelia De Lange Syndrome 1	Micrognathia, High palate, Dislocated radial head, High, narrow palate, Downturned corners of mou...	OMIM:122470
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Thoracic kyphoscoliosis, High palate, Pe...	OMIM:618371
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs...	OMIM:617877
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S...	OMIM:615777
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A...	ORPHA:2919
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint hypermobility, Br...	OMIM:619451
Spinal Muscular Atrophy, Type I	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of the ribs, Pec...	OMIM:606851
Breath-Holding Spells	Cyanosis	OMIM:607578
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Respiratory distress, Femo...	OMIM:618188
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Overlapping toe, Cutaneous fing...	OMIM:114300
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial poly...	OMIM:263520
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Rectourethral fistula, Short ribs, Short c...	OMIM:603116
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Immunodeficiency 95	Respiratory distress, Respiratory failure	OMIM:619773
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion, Posterior rib fusion	OMIM:122600
Renpenning Syndrome	High, narrow palate, Macrodontia, Joint stiffness, Narrow mouth, Abnormal thumb morphology, Short...	ORPHA:3242
Metatropic Dysplasia	Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic ce...	ORPHA:2635
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow chest, Sandal gap, Sh...	OMIM:617102
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening...	OMIM:300863
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Cleft upper lip, Stillbirth,...	OMIM:308050
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone...	OMIM:613848
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe...	OMIM:156550
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Acetabu...	ORPHA:1143
Meier-Gorlin Syndrome 3	Narrow chest, Microretrognathia, Tracheomalacia, Slender long bone, Patellar hypoplasia, Short th...	OMIM:613803
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Respiratory failure, Joint hypermobility	OMIM:600561
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca...	OMIM:250220
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Respiratory insufficiency, Gingival overgrowth, Thick vermilion border, Micrognath...	OMIM:618186
High Altitude Pulmonary Edema	Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Mucopolysaccharidosis, Type Ix	Bifid uvula, Wrist hypermobility, Submucous cleft hard palate, Synovitis, Lumbar scoliosis, Aceta...	OMIM:601492
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Long philtrum, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Thick upper lip vermili...	ORPHA:163654
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Radio-Renal Syndrome	High, narrow palate, Downturned corners of mouth, Micromelia, Respiratory distress, Micrognathia,...	ORPHA:3015
Mitral Valve Prolapse 1	High, narrow palate, Pectus excavatum, High palate	OMIM:157700
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Short distal phalanx of the thumb, Cleft upper lip, Abnormal sternu...	OMIM:109400
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint hypermobility, Joint contracture, Respiratory insufficiency due to muscle weakness, Pectus ...	OMIM:617066
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Neonatal respiratory distress, Congenital contracture, Pursed lips, Long philtrum, Elbow flexion ...	OMIM:616266
Atelosteogenesis, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ...	OMIM:256050
Donnai-Barrow Syndrome	Intestinal malrotation, Short sternum, Wide anterior fontanel	OMIM:222448
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodies, Twelfth rib hypoplas...	ORPHA:397715
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Bell-shaped thorax, Micrognathia, Short hard palate, High palat...	OMIM:117650
Distal Duplication 15Q	Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Joint stiffness, Micrognathi...	ORPHA:1707
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth	OMIM:300934
Nail-Patella Syndrome	Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head, Glenoid fossa hy...	OMIM:161200
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax	ORPHA:93302
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Short 3rd toe, Short 2nd toe, Pectus...	ORPHA:1326
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility, High palate	OMIM:300219
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Narrow chest, Short middle phalanx of finger...	OMIM:618853
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Apnea, Neonatal death, Split hand, Respiratory failure	OMIM:610127
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ...	OMIM:184250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micrognat...	ORPHA:2522
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea	OMIM:265120
Noonan Syndrome 12	Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb, Anteriorly placed anus	OMIM:618624
Opsismodysplasia	Narrow chest, Broad thumb, Abnormal epiphysis morphology, Respiratory insufficiency, Joint stiffn...	ORPHA:2746
Congenital Myopathy 24	Pectus excavatum, High palate, Scapular winging	OMIM:617336
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Micrognathia, Joint hyper...	ORPHA:776
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita...	OMIM:254210
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Respiratory distress, Short humerus, Short ribs, Thin upper ...	OMIM:607143
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Nemaline Myopathy 8	Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Rib exostoses, Small hand, Natal tooth, Trache...	ORPHA:2108
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Seckel Syndrome 5	Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, Enamel hypopla...	OMIM:613823
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Pectus carinatum, Toe syndactyly, Dental malocclusion, Short toe,...	ORPHA:1327
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Pectus excavatum, Hypoplasia of teeth, Delayed o...	ORPHA:3010
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac...	ORPHA:536516
Spinocerebellar Ataxia, Autosomal Recessive 31	Gingival overgrowth, Death in childhood, Smooth philtrum, Clinodactyly of the 5th finger, High pa...	OMIM:619422
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Aarskog-Scott Syndrome	Abnormality of the dentition, Small hand, Finger syndactyly, Delayed eruption of teeth, Camptodac...	ORPHA:915
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Thick vermilion border, Pectu...	OMIM:617180
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Overlapping toe, Open mouth, Exaggerated cupid's bow, Joint hypermobility, W...	ORPHA:254528
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Short ribs, Postaxial...	OMIM:617088
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Ventilator dependence with inability to wean, Macroglossia, High palate, Re...	ORPHA:254864
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Micrognathia, Knee flexion contracture, Microdontia, Down-sloping shoulders,...	OMIM:619694
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Bell-shaped thorax, Micrognathia, Neonatal death, Aplasia/Hypopla...	OMIM:108720
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Respira...	OMIM:615349
Osteogenesis Imperfecta, Type Xxi	Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Coxa vara, Osteo...	OMIM:619131
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Anal atresia, Respiratory ...	OMIM:276950
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Pectus carinatum, Hypoplasia of the odontoid process, Respiratory distress, Limited ...	OMIM:183900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, High palate, C...	OMIM:266920
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co...	OMIM:619334
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Unilateral cleft lip, Abnormal thumb morphology, Abnormal metacarpal morph...	ORPHA:2511
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Narrow chest, Tracheomalacia, Respiratory insu...	ORPHA:140
Aortic Aneurysm, Familial Thoracic 9	Arachnodactyly, Pectus carinatum, High palate, Pectus excavatum	OMIM:616166
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Micrognathia, Triangular mouth, Short sternum, Duodenal atresia, Cleft palate	OMIM:257300
Laryngomalacia	Respiratory distress	OMIM:150280
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Hip contracture, Achilles tendon contracture, Scapular winging, Hip dys...	OMIM:615290
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Exertional dyspnea,...	OMIM:108145
Braddock Syndrome	Neonatal respiratory distress, Preaxial hand polydactyly, Micrognathia, Missing ribs, Pectus exca...	ORPHA:52047
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Multiple joint contractures, Respira...	ORPHA:370968
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Thin ribs, Dentinogenesis impe...	OMIM:616294
Proximal Xq28 Duplication Syndrome	Pectus excavatum, Joint stiffness, Tented upper lip vermilion, Everted lower lip vermilion	ORPHA:1762
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness	OMIM:300580
Ear-Patella-Short Stature Syndrome	High, narrow palate, Aplastic clavicle, Bifid uvula, Abnormal epiphysis morphology, Slender long ...	ORPHA:2554
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Craniosynostosis, High palate, Pectus excavatum, Pyloric stenosis	ORPHA:314575
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:140896
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Abnormal lip morphology, Respiratory distress, Abnormal upper lip morphology...	ORPHA:2707
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, 11 pairs of rib...	OMIM:619184
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Oligodontia, Thin upper lip vermilion, Brachydactyl...	OMIM:616331
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Distal Monosomy 7Q36	Micrognathia, Symphalangism affecting the phalanges of the hand, Pectus excavatum, Clinodactyly o...	ORPHA:1636
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, High palate, Pectus excavatum, Narrow chest	OMIM:300676
Weaver Syndrome	Toe clinodactyly, Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip p...	OMIM:277590
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv...	OMIM:214300
Orofacial Cleft 13	Micrognathia, Cleft soft palate, Oligodontia	OMIM:613857
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Death in infancy, Cleft palate	OMIM:258320
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Genu valgum, Polydactyly, Triangular mouth,...	OMIM:607131
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay...	OMIM:264700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dyspnea, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:90117
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Scoliosis, Short neck, Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Fle...	OMIM:618469
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short...	ORPHA:1436
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Preax...	OMIM:252100
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Exertional dyspnea, Orthopnea, High palate, Respiratory failure	ORPHA:98913
Frontoocular Syndrome	Coronal craniosynostosis, Micrognathia, Narrow mouth, Narrow philtrum, Pectus excavatum, High palate	OMIM:605321
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Overlapping fingers, Micrognathia, Multiple joint contractures, Femur...	OMIM:618291
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Flaring of rib cage, St...	OMIM:612852
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Joint hypermobility, Respiratory insufficiency due to muscle weaknes...	ORPHA:486815
Moebius Syndrome	Bifid uvula, Abnormal pelvic girdle bone morphology, Abnormality of the dentition, Clinodactyly, ...	OMIM:157900
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Legius Syndrome	High, narrow palate, Pectus excavatum, High palate, Micrognathia	OMIM:611431
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Pectus excavatum, Short...	ORPHA:2471
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Microretrognathia, Clinodactyly of the 2nd finger, Long philtrum, ...	OMIM:618870
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Narrow chest, Broad phalanx of th...	OMIM:614378
Boudin-Mortier Syndrome	Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ...	OMIM:619543
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus e...	ORPHA:64755
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V...	ORPHA:89936
Typical Nemaline Myopathy	Narrow chest, Respiratory insufficiency, Nocturnal hypoventilation, Genu valgum, Micrognathia, Ge...	ORPHA:171436
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Long philtrum, Micrognathia, Narrow...	OMIM:618659
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short rib...	OMIM:616546
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Sandal gap, Selective tooth agenesis, Hypoplasia of proxima...	OMIM:210600
Coffin-Siris Syndrome 6	High, narrow palate, Clinodactyly, Micrognathia, Deep philtrum, Brachydactyly, Pectus excavatum, ...	OMIM:617808
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Narrow chest, 11 pairs of ribs, Rhizomelia, Anteriorly placed anus	OMIM:617661
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Finger joint hypermobility, Cleft palate, Cleft upper lip, Pectus excavatum	OMIM:244200
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Hypoplasia of t...	OMIM:212780
Distal Duplication 18Q	Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal dental morphology, Microgna...	ORPHA:1716
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate	ORPHA:2521
Hypoglossia With Situs Inversus	Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High palate	OMIM:612776
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High...	OMIM:618779
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e...	OMIM:277440
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Respiratory failure, Death in infancy	OMIM:616277
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness...	ORPHA:254875
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs	OMIM:604919
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deviation of finger, Joint stiffness, Arachnodactyly, Congenital finger flexion contractures, Pec...	ORPHA:1154
Infant Acute Respiratory Distress Syndrome	Cyanosis, Tachypnea, Nasal flaring, Hypoxemia	ORPHA:70587
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bo...	ORPHA:93160
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Anal stenosis, Bell-shaped thorax, Missing ribs, Rib fusion, Ectopic anus, Short...	OMIM:613686
Shwachman-Diamond Syndrome 1	Neonatal respiratory distress, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distres...	OMIM:260400
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Neonatal respiratory distress, Narrow chest, Tracheomalacia, Clinodactyly, Downturned corners of ...	OMIM:217980
16P13.11 Microduplication Syndrome	Joint hypermobility, Arachnodactyly, Hand polydactyly, Craniosynostosis, Pectus excavatum	ORPHA:261243
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, 2-3 finger syndactyly, Broad toe, Short greater sc...	OMIM:312870
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Short tibia, Short toe, Preaxial polydactyly, Oligodactyly, Short 4th f...	ORPHA:2756
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, High palate, Pectus excavatum, Cleft palate	OMIM:618603
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Long philtrum, Tachypnea, Dyspnea, Pectu...	ORPHA:765
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Clinodactyly, Widely spaced teeth, Thoracic kyphosis, Arachnodactyly, Pectus excavatum, Syndactyly	OMIM:619092
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Missing ribs, Orofacial clef...	ORPHA:3301
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy...	OMIM:610921
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Brachydactyl...	ORPHA:2701
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin...	ORPHA:3027
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Bifid uvula, Platyspondyly, Joint stiffness, Irregular fem...	OMIM:108300
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Flexion contr...	ORPHA:171430
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis	ORPHA:2414
Orofaciodigital Syndrome Xix	Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br...	OMIM:620107
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Horizontal ribs...	OMIM:613610
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Mis...	ORPHA:1647
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Diaphyseal undertubul...	OMIM:620663
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Hypoplastic il...	OMIM:271640
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Brachyda...	ORPHA:1598
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Scap...	OMIM:617258
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Short ribs, Missing ribs, Rib fusion, Vertebral fusion, Anal atresia	OMIM:271520
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou...	ORPHA:3201
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Osteogenesis Imperfecta, Type Vii	Osteopenia, Dentinogenesis imperfecta, Narrow chest, Rhizomelia, Micromelia, Long philtrum, Crump...	OMIM:610682
Focal Dermal Hypoplasia	Abnormality of the dentition, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac...	ORPHA:2092
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Dental crowding, Thoraci...	OMIM:620369
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology	ORPHA:50251
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea...	ORPHA:3472
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Downturned corners of mouth, Camptodactyly of finge...	ORPHA:2215
Christianson Syndrome	Abnormal thorax morphology, Death in early adulthood, Joint hypermobility, Adducted thumb, Pectus...	ORPHA:85278
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Nocturnal hypoventilation, Respiratory failure, Scapular winging, Achilles tendon contracture	OMIM:603689
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Cryptogenic Organizing Pneumonia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:1302
ERI1-related disease	Osteopenia, Pectus carinatum, Narrow chest, Velopharyngeal insufficiency, Slender metacarpals, Ol...	OMIM:608739
Shprintzen-Goldberg Syndrome	High, narrow palate, Osteopenia, Pectus carinatum, Narrow chest, Camptodactyly of finger, Joint s...	ORPHA:2462
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Respiratory distress, Short clavicles, Rectal prolapse	OMIM:619793
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Respiratory distress, Death in childhood, Death in infancy, Thorac...	OMIM:620278
Ritscher-Schinzel Syndrome 1	Micrognathia, Missing ribs, Anal atresia, Cleft palate, Syndactyly	OMIM:220210
Thoracic Dysplasia-Hydrocephalus Syndrome	Narrow chest, Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Narrow mouth, Micrognathia, Radioulnar synostosis, Broad distal...	OMIM:245600
Congenital Myopathy 22A, Classic	Dental crowding, Respiratory insufficiency, Micrognathia, Open mouth, High palate, Hip contractur...	OMIM:620351
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Radiou...	OMIM:154400
Laryngotracheoesophageal Cleft	Dyspnea, Cyanosis	ORPHA:2004
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, Respiratory distress, 11 pairs of ribs, Adducted thumb	ORPHA:50810
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea, Hyperoxemia	ORPHA:70589
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Paradoxical respiration, Distal arthrogry...	OMIM:620011
Dysostosis, Stanescu Type	Abnormality of the dentition, Macroglossia, Carious teeth, Abnormal epiphysis morphology, Microme...	ORPHA:1798
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, High palate, Short distal phalanx of the 5th finger, Sh...	OMIM:620662
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pectus excavatum, High palate	OMIM:245349
Joubert Syndrome 21	Apnea, Bell-shaped thorax, Short ribs, Dyspnea, Respiratory failure	OMIM:615636
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Apnea, Split hand	ORPHA:168486
Tyshchenko Syndrome	High, narrow palate, Narrow chest, High palate, Pectus excavatum, Narrow palate, Cleft palate	OMIM:615102
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Genu valgum, Micrognathia, Splayed toes, Celiac disease, Hig...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Splayed toes, Celiac disease, Hig...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Splayed toes, Celiac disease, Hig...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Genu valgum, Micrognathia, Splayed toes, Celiac disease, Hig...	ORPHA:881
Ectopia Lentis 1, Isolated, Autosomal Dominant	Pectus carinatum, Joint hypermobility, Arachnodactyly, Pectus excavatum, High palate	OMIM:129600
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Anal a...	OMIM:300373
Galloway-Mowat Syndrome 7	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly, Smoo...	OMIM:618348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Wide anterior fontanel, Narrow chest, Rhizomelia, Respiratory distress, Femoral bowing, Tibial bo...	OMIM:616482
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Short thumb, Delayed eruption of teeth, Long phi...	ORPHA:2712
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Everted lower lip vermilion, Hig...	ORPHA:192
Pulmonary Alveolar Proteinosis, Acquired	Dyspnea, Hypoxemia, Cyanosis	OMIM:610910
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Respiratory failure	OMIM:613435
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Pectus excavatum, Oligodontia	OMIM:618330
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Micrognathia, Aganglionic megacolon, Thin vermilion border, Pectus exc...	ORPHA:1438
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d...	OMIM:608799
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Osteopenia, Joint contracture of the hand, Narrow palate, Dental malocclusion, Pectus ...	OMIM:182212
Noonan Syndrome 11	Pectus excavatum, Thick vermilion border	OMIM:618499
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermilion, Joint hypermob...	OMIM:616362
Amish Lethal Microcephaly	Limitation of joint mobility, Micrognathia, Cleft soft palate, Death in infancy, Decreased skull ...	ORPHA:99742
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Coffin-Siris Syndrome 1	Aplasia/Hypoplasia of the patella, High palate, Duodenal ulcer, Dislocated radial head, Short dis...	OMIM:135900
Multiple Mitochondrial Dysfunctions Syndrome 3	High palate, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Narrow chest, Abnormal pelvis bone ossification, Long philtrum, Preaxial hand poly...	ORPHA:93271
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mo...	ORPHA:391408
3C Syndrome	High, narrow palate, Finger syndactyly, Intestinal malrotation, Abnormal hip bone morphology, Mic...	ORPHA:7
Raine Syndrome	Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o...	OMIM:259775
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Open mouth, Joint hypermobility, Arachnodactyly, Camptodactyly, Pectus excavatu...	OMIM:301039
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibu...	OMIM:202650
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre...	OMIM:146300
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo...	OMIM:166250
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Slender long bone, Nar...	ORPHA:2463
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal tr...	ORPHA:2780
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Aplasia/hypoplasia of the femur, Abno...	ORPHA:2636
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Congenital Myopathy 17	Narrow chest, Dental malocclusion, Clinodactyly, Long philtrum, Respiratory insufficiency, Overla...	OMIM:618975
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the odontoid process, Clinodactyly, Radial deviation of finger, C...	OMIM:305400
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Microdontia, Thin upper lip vermilion, Br...	OMIM:618027
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Abnormal thorax morphology, Narrow mouth, Micrognathia, Pectus excavatum, Flexio...	ORPHA:1979
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m...	OMIM:616867
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia,...	ORPHA:93259
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Respiratory failure, Central hypoventilation	OMIM:619483
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly	OMIM:614526
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger...	ORPHA:1786
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri...	OMIM:259100
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Pursed lips, Genu valgum, Narrow mouth, Micrognathia, Hip con...	ORPHA:800
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Broad fingertip, Finger joint hypermobility, High palate, Short ...	OMIM:212720
Lamb-Shaffer Syndrome	Pectus carinatum, Dental crowding, Clinodactyly, Long hallux, Overlapping toe, Open mouth, Long f...	OMIM:616803
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Elbow flexion contracture, Knee flexion contracture, Decreased cervical spine flexion due to cont...	OMIM:310300
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Respiratory failure, Limb undergrowt...	OMIM:617809
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Hamamy Syndrome	Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Osteopenia, Thin upper lip ve...	OMIM:611174
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Short toe, Sandal gap, Short finger, Delayed eruption o...	ORPHA:2980
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Micrognathia, Thin upper lip vermilion, Smooth philtrum, Hallux valgus...	OMIM:614104
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
X-Linked Centronuclear Myopathy	Respiratory distress, High palate, Respiratory failure requiring assisted ventilation	ORPHA:596
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum	OMIM:312170
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure	OMIM:619057
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Tetrasomy 5P	Long philtrum, Respiratory distress, Overlapping toe, Micrognathia, Short hallux, Long fingers, C...	ORPHA:3309
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Stippled calcification proximal humeral epiph...	OMIM:222765
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Hypoxemia	ORPHA:264675
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Apl...	OMIM:609945
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow palate, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula,...	OMIM:200980
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Triphalangeal thumb, Brachydactyl...	OMIM:604757
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Pectus carinatum, Dental crowding, Thick lower lip vermilion, L...	OMIM:309583
Sandestig-Stefanova Syndrome	Clinodactyly, Orofacial cleft, Camptodactyly, High palate, Rocker bottom foot, Respiratory failure	OMIM:618804
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Thoracolumbar kyphosis, Hypoplasia of the capital femoral epiphysis, Death ...	OMIM:617425
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Limitation of joint mobility, Dental crowding, Arachnodactyly, Osteoporosis, Ge...	OMIM:236200
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Micrognathia, Oligodontia, 2-3 toe syndactyly, Thin u...	OMIM:617061
Cardiofaciocutaneous Syndrome 3	Pectus excavatum, Wide mouth, Reduced bone mineral density	OMIM:615279
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Missing ribs, Tracheoesophageal fistula, Esophageal atresia, Clinodactyly of the ...	OMIM:619859
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Pectus carinatum, Hypoplasia ...	OMIM:618150
Insulin-Like Growth Factor I, Resistance To	Abnormal rib cage morphology, Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviatio...	OMIM:270450
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Wide mouth, Death in infancy, Short philtrum, Flexion contracture, Respi...	ORPHA:1194
Steinfeld Syndrome	Bifid uvula, Median cleft palate, Missing ribs, Aplasia/Hypoplasia of the thumb, Median cleft upp...	OMIM:184705
Allan-Herndon-Dudley Syndrome	Pectus excavatum, Flexion contracture, Hallux valgus	OMIM:300523
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Long philtrum, Thin upper lip vermilion	OMIM:614741
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Respiratory failure	OMIM:614299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Narrow palate, Flexion contracture, Respiratory failure, Tapered finger	OMIM:616505
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera...	ORPHA:157215
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Malaria	Respiratory distress	ORPHA:673
Aortic Aneurysm, Familial Thoracic 12	Pectus excavatum, High palate, Arthritis	OMIM:619825
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:2590
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Tooth malposition, Narrow chest, Delayed er...	OMIM:309350
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Open bite, Ankyloglos...	ORPHA:1507
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Gingival overgrowth, Micrognathia, Missing ribs, Abnormal...	ORPHA:1834
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Long philtrum, Thick lower lip vermilion, Micrognathia, Joint hypermobility, Dyspnea, Pectus exca...	ORPHA:555877
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pectus excavatum, Micrognathia, Wide anterior fontanel	OMIM:618272
Loeys-Dietz Syndrome 5	Bifid uvula, Pectus carinatum, Bilateral coxa valga, Cleft soft palate, Tented upper lip vermilio...	OMIM:615582
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Genu valgum, Delayed ...	OMIM:620099
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Pectus carinatum, Long philtrum, Respiratory distress, Overlapping fingers, Overlapping toe, Tent...	OMIM:619383
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous ...	OMIM:614701
Choanal Atresia	Respiratory distress, Cyanosis	ORPHA:137914
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Resp...	ORPHA:137888
Prune Belly Syndrome	Congenital hip dislocation, Pectus carinatum, Xerostomia, Pectus excavatum, Anal atresia	OMIM:100100
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Nocturnal hypoventilation, Respiratory failure	OMIM:620326
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morp...	ORPHA:198
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Congenital Disorder Of Glycosylation, Type Iia	Abnormal rib cage morphology, Osteopenia, Slender long bone, Long philtrum, Diastema, Macrodontia...	OMIM:212066
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip verm...	OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Dental crowding, Micrognathia, Open mouth, Joint hypermobility, Arachnodactyly, Thin...	OMIM:309520
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia, Finger syndactyly, Broa...	ORPHA:93260
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Pectus excavatum, Joint hypermobility	ORPHA:3375
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Elbow flexion contracture, Multiple joint contractures, Knee flexi...	ORPHA:70
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Abnormality of the dentition, Joint hypermobility, Pectus excavatum, Thick vermilion...	OMIM:618505
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Limitation of joint mobility, Finger syndactyly, Long philtrum, Ca...	ORPHA:2990
Xp22.13P22.2 Duplication Syndrome	Small hand, 2-3 toe syndactyly, Pectus excavatum, High palate, Tapered finger	ORPHA:284180
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Abnormal dental morphology, Narrow mouth, Tented upper lip verm...	OMIM:612582
Cap Myopathy	Pectus excavatum, High palate, Thoracic scoliosis, Central hypoventilation	ORPHA:171881
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Fragile X Syndrome	Pectus excavatum, Metacarpophalangeal joint hyperextensibility, Joint hypermobility	OMIM:300624
Asbestos Intoxication	Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia	ORPHA:2302
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Pyloric stenosis, Conical tooth, Short thumb, Cleft upper lip, Microg...	OMIM:263750
Malan Syndrome	Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Everted lower lip vermilion, Long ...	OMIM:614753
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo...	OMIM:618874
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum...	OMIM:612292
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Downturned corners of mouth, Micrognathia, Narrow mouth, Oligodontia, Down-sloping shoulders, Pec...	OMIM:616817
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Sandal gap, Recurrent shoulder dislocation, Genu valgum, Joint hypermobility, Ha...	ORPHA:230851
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Short philtrum, Micrognathia, Thin vermilion border	ORPHA:261304
Ruijs-Aalfs Syndrome	Clinodactyly, Elbow flexion contracture, Micrognathia, Down-sloping shoulders, Osteoporosis, Thor...	OMIM:616200
Richieri-Costa/Guion-Almeida Syndrome	Pectus excavatum, Cleft upper lip, Cleft palate, Abnormal digit morphology	OMIM:268850
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Narrow chest, Long philtrum, Broad ribs, Genu valgum, Limited ...	OMIM:304150
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long philtrum, Intestinal malrotation, Overlapping toe, Overlapping fingers, Exaggerated cupid's ...	OMIM:618316
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Abnormality of the dentition, Downturned corners of mout...	OMIM:615398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Elbow contracture, Achilles tendon contracture, Vertebral fusion, Respiratory failure	OMIM:606612
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Oligodontia, Hypodonti...	OMIM:305600
Fibrous Dysplasia Of Bone	Rickets, Abnormal clavicle morphology, Abnormal rib morphology, Osteomalacia, Cortical irregulari...	ORPHA:249
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad...	OMIM:609625
Mucopolysaccharidosis, Type Vii	Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Limitation of joint...	OMIM:253220
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pectus excavatum, Calcaneovalgus deformity, Joint hypermobility	OMIM:225320
Teebi-Shaltout Syndrome	High, narrow palate, Pectus carinatum, Caudal appendage, Prominent palatine ridges, Narrow mouth,...	OMIM:272950
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Pectus carinatum, Dental crowding, Joint hypermobility, Short philt...	ORPHA:65286
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Intestinal malrotation, Intestinal atresia, Abnormal rib mo...	ORPHA:2970
Macs Syndrome	Eclabion, Long philtrum, Recurrent aphthous stomatitis, Gingival overgrowth, Micrognathia, Irregu...	OMIM:613075
Myhre Syndrome	Craniofacial hyperostosis, Bifid uvula, Gingival cleft, Abnormal epiphysis morphology, Unilateral...	ORPHA:2588
Intellectual Developmental Disorder, Autosomal Recessive 78	Narrow chest, Microretrognathia, Brachydactyly, Clinodactyly of the 5th finger, High palate, Pect...	OMIM:620237
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Joint hypermobility, Hypodontia, Hip dysplasia, Finger...	ORPHA:544503
Frank-Ter Haar Syndrome	Micrognathia, Bowing of the long bones, Prominent coccyx, High palate, Osteopenia, Broad clavicle...	OMIM:249420
Congenital Muscular Dystrophy, Fukuyama Type	Pectus excavatum, Flexion contracture, Camptodactyly of finger	ORPHA:272
Leigh Syndrome, Nuclear	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Achilles tendon contracture, High palate, Respiratory failure, Cleft palate	OMIM:620249
Tricuspid Atresia	Cyanosis	ORPHA:1209
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Pectus carinatum, Fractures of the long bones, Widely spaced teeth, M...	ORPHA:496641
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Short thumb, Micrognathia, Narrow mouth, Fibular hypoplasia, Neon...	OMIM:227270
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Thin upper lip vermilion, Smo...	ORPHA:329224
Idiopathic Pulmonary Fibrosis	Acrocyanosis, Orthodeoxia, Exertional dyspnea	ORPHA:2032
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Finger syndactyly, Sandal gap, Aplasia/Hypopla...	ORPHA:193
Craniofrontonasal Syndrome	Abnormal rib cage morphology, Coronal craniosynostosis, Abnormality of the dentition, Toe syndact...	OMIM:304110
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger, Respiratory failure	OMIM:250940
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Tooth malposition, Narrow palate, Periodontitis, Sandal gap, Premature loss of teeth,...	ORPHA:536532
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of the capital femoral epi...	ORPHA:1901
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Micrognathia, Cleft palate	OMIM:606164
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Respiratory distress, Microgna...	ORPHA:329178
Shukla-Vernon Syndrome	Pectus excavatum, Long fingers, Tapered finger	OMIM:301029
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Long philtrum, Joint hypermobility, Bowing of the long bo...	OMIM:612940
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Overlapping toe, Apnea, Hip contracture, Joint hypermobility, Flexion ...	OMIM:617301
Malan Overgrowth Syndrome	Pectus excavatum, High palate, Narrow mouth, Slender long bone	ORPHA:420179
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Joint hyper...	ORPHA:96169
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea, Hypoxemia	ORPHA:178320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Neonatal respiratory distress, Respiratory insufficiency, Elbow flexi...	OMIM:608836
Arthrogryposis Multiplex Congenita 5	Neonatal respiratory distress, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, Microg...	OMIM:618947
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ...	ORPHA:158687
Arterial Tortuosity Syndrome	Rocker bottom foot, Cardiorespiratory arrest, Respiratory distress, Avascular necrosis of the cap...	ORPHA:3342
Primary Pulmonary Hypoplasia	Hypoxemia, Tachypnea, Apnea, Cyanosis	ORPHA:2257
Fliedner-Zweier Syndrome	Long philtrum, Joint hypermobility, Hallux valgus, Anal atresia, Tracheoesophageal fistula, Pectu...	OMIM:620511
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Overlapping toe, Deep p...	OMIM:618571
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, Hamartoma of ...	OMIM:615948
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Intestinal malrotation, ...	OMIM:617602
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Tachypnea, Respiratory failure, Camptodactyly of fi...	OMIM:604320
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Long philtrum, Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs...	ORPHA:319182
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness, Hammertoe, Down-sloping shoulders	OMIM:606071
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Broad phalanx, Hip dislocation, Fused cervical verteb...	ORPHA:508498
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Mucopolysaccharidosis-Plus Syndrome	Pectus carinatum, Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wi...	OMIM:617303
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Clinodactyly of the 5th finger,...	OMIM:227330
Robinow Syndrome	Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Meso...	ORPHA:97360
Hallermann-Streiff Syndrome	Thin ribs, High, narrow palate, Decreased number of sternal ossification centers, Narrow palate, ...	OMIM:234100
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Clinodactyly of...	ORPHA:96148
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, High pala...	ORPHA:235
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	OMIM:620375
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth...	OMIM:139210
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Macroglossia, Clinodactyly, Long philtrum, Respiratory insufficiency, 11 pai...	ORPHA:488632
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Pectus carinatum, Arachnodactyly, Clinodactyly of the 5th finger, Pectus excavatum	OMIM:619910
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Pneumocystosis	Respiratory insufficiency, Exertional dyspnea, Dyspnea, Respiratory failure, Respiratory failure ...	ORPHA:723
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilation, Polydacty...	ORPHA:314655
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Sandal gap, Prominent fingertip pads, Long philtrum, Respiratory...	OMIM:612863
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, High palate, Micrognathia	OMIM:619699
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Downturned corners of mouth, Slender long bone, Joint hypermobility, Thin upper lip v...	OMIM:618590
Alg1-Cdg	Protein-losing enteropathy, Limitation of joint mobility, Respiratory failure	ORPHA:79327
Aicardi Syndrome	Block vertebrae, Small hand, Cleft upper lip, Intestinal polyposis, Missing ribs, Supernumerary r...	ORPHA:50
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Camptodactyly of toe, Arachnodactyly, Wide femoral metaphysis, Camptodactyly, Pectus excavatum, H...	OMIM:610474
Synaptic Congenital Myasthenic Syndromes	Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ...	ORPHA:98915
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har...	OMIM:617412
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Abnormality of the dentition, High palate, Pectus excavatum	OMIM:251750
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory insufficiency due to mu...	OMIM:220110
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Pectus excavatum, High palate, Cleft palate	ORPHA:488613
Craniofaciofrontodigital Syndrome	Osteopenia, Macroglossia, Pectus carinatum, Long philtrum, Respiratory distress, Gingival overgro...	ORPHA:363705
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Micrognathia, High palate, Short me...	OMIM:616145
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl...	OMIM:164220
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ...	ORPHA:476126
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Respiratory failure, Central hypoventilation	OMIM:618233
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Absent ossi...	ORPHA:226313
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sandal gap, Long philtrum, Decreased fibular diameter, Joint stiffness, Ge...	OMIM:619127
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Persistent cloaca, Vertebra...	OMIM:615709
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Diastema, Furrowed tongue, Micrognathia, Thin upper lip vermilion...	OMIM:300534
Native American Myopathy	Bifid uvula, Congenital contracture, Downturned corners of mouth, Respiratory insufficiency, Micr...	ORPHA:168572
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Recurrent Respiratory Papillomatosis	Tracheomalacia, Respiratory insufficiency, Respiratory distress, Tachypnea, Dyspnea	ORPHA:60032
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Long philtrum, Arachnodactyly, Thin upper lip...	OMIM:612513
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi...	ORPHA:3320
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Flared metaphysis, Cleft upper lip, Thoracic hypopla...	OMIM:211350
Noonan Syndrome 7	Pectus carinatum, Joint hypermobility, Abnormal esophagus morphology, Thick vermilion border, Pec...	OMIM:613706
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Sprengel anomaly, Pec...	OMIM:619227
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Micrognathia, Narrow mouth, Long fingers, Pectus excavatum, High palate, Cleft palate	OMIM:156610
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Intermittent episodes of respira...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Intermittent episodes of respira...	ORPHA:98914
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,...	ORPHA:2658
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly, Pectus excavatum, Cleft palate, Accessory oral frenulum	OMIM:616954
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Hypoventilation, Achilles tendon contracture, F...	OMIM:310200
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Ehlers-Danlos Syndrome, Classic Type, 1	Bowel diverticulosis, Joint hypermobility, Osteoarthritis, Irregularly spaced teeth, Pectus excav...	OMIM:130000
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Intestinal obstru...	ORPHA:666
Lethal Congenital Contracture Syndrome 2	Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Pectus excavatum, Flexion contracture	OMIM:611588
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Submucous cleft hard palate, Hypoplasia ...	ORPHA:2804
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
16P13.11 Microdeletion Syndrome	Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Thin upper ...	ORPHA:261236
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Limitation of joint mobility, Sandal gap, Finger syndactyly, Campto...	ORPHA:178303
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Narrow mouth, Joint hypermobility, Adducted thumb, Pectus excavatum, ...	OMIM:219150
Autoimmune Pulmonary Alveolar Proteinosis	Dyspnea, Hypoxemia, Cyanosis	ORPHA:747
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Cranial hyperostosis, Flared metaphysis, Long philtrum, Gingival overgrowth, Microgna...	OMIM:259720
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Abnormal dental morphology, Joint ...	ORPHA:2176
Alfadhel Syndrome	Joint hypermobility, Smooth philtrum, Thin vermilion border, Short philtrum, Nasal flaring	OMIM:620655
Diamond-Blackfan Anemia 10	Respiratory distress, Supernumerary ribs, Micrognathia, Cleft palate	OMIM:613309
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Clinodactyly, Anteriorly placed anus, Micrognathia, Ten...	ORPHA:247262
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate	OMIM:619239
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D...	OMIM:211530
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Clinodactyly of the 5th finger, Cleft soft palate, Pierre-Robin sequence	OMIM:620183
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Respiratory distress, Micrognathia, Deep philtrum, Eso...	OMIM:610536
Noonan Syndrome 14	High, narrow palate, Pectus carinatum, Clinodactyly, Long philtrum, Limited elbow extension, Scap...	OMIM:619745
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Respiratory distress, Joint...	OMIM:300968
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Micrognathia, Submucous cleft hard...	ORPHA:2189
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Joint contracture of the hand, Small hand, Protein-losing enteropathy, ...	OMIM:235510
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Meckel diverticulum, Abnormal sternum morphology, Intestinal malro...	ORPHA:2847
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Cleft upper lip, Acetabular dysplasia, Oligodontia, ...	OMIM:201180
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Microretrognathia, Adducted thumb	ORPHA:89844
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Isolated Right Ventricular Hypoplasia	Dyspnea, Hypoxemia, Cyanosis	ORPHA:439
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Cleft upper lip, Overlapping toe, Gingival overgrowth, Micrognathia, Joint hypermob...	OMIM:213980
Stüve-Wiedemann Syndrome	Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Smooth tongue, Micromelia...	ORPHA:3206
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure	ORPHA:2254
Koolen-De Vries Syndrome	Slender finger, Narrow palate, Prominent fingertip pads, Cleft upper lip, Widely spaced teeth, Op...	OMIM:610443
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with rounded ...	OMIM:231050
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Clinodactyly, Micrognathia, High palate, Pectus excavatum, Short phil...	OMIM:609944
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Dental crowding, Elbow flexion contracture...	ORPHA:2020
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, High palate, S...	ORPHA:221120
X-Linked Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to contractures ...	ORPHA:98863
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea, Respiratory failure, Death in childhood	OMIM:615838
Larsen Syndrome	Pectus carinatum, Hypoplastic cervical vertebrae, Tracheomalacia, Cleft upper lip, Accessory carp...	OMIM:150250
20Q11.2 Microduplication Syndrome	Pectus carinatum, Tented philtrum, Gingival overgrowth, Limited elbow extension, Tented upper lip...	ORPHA:363659
Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to contractures ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to contractures ...	ORPHA:98853
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Scapular winging, Dyspnea, Respiratory failure, Wide anterior fontanel	ORPHA:26791
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Pectus excavatum, High palate, Cleft palate	ORPHA:52055
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Thoracic hypoplasia, Respiratory distress, Apnea, Open mouth, Narrow...	OMIM:608013
Xq12-Q13.3 Duplication Syndrome	2-3 toe syndactyly, Pectus excavatum, Cutaneous finger syndactyly, Everted lower lip vermilion	ORPHA:314389
Lateral Meningocele Syndrome	Dental crowding, Long philtrum, Sclerosis of skull base, Micrognathia, Joint hypermobility, Smoot...	OMIM:130720
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, 2-3 toe synda...	OMIM:264480
Acute Interstitial Pneumonia	Dyspnea, Tachypnea, Hypoxemia, Cyanosis	ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia	OMIM:610913
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Contractures of the large joints, Long philtrum, Micrognathia, Abnormality o...	ORPHA:96092
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Pyloric stenosis, Broad thumb, Bifid uvula, Finger clinodactyly, Elbo...	OMIM:617137
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy	OMIM:618426
19P13.13 Microdeletion Syndrome	Sandal gap, Clinodactyly, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Long fingers, ...	ORPHA:357001
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ...	OMIM:142900
Buratti-Harel Syndrome	Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cleft hard palate...	OMIM:619314
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Dental crowding, Micrognathia, Joint hypermobilit...	ORPHA:2789
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Narrow chest, Arachnodactyly, Long fingers, Scapular winging, Craniosynostos...	OMIM:616914
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Polydactyly, Joint hypermobility, Orofaci...	ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Thoracolumbar scoliosis, Everted lower lip vermilion, High pala...	OMIM:620450
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Clinodactyly, Slender long bone, Limited elbow extension, Thoracic kyphoscoliosis, Hallux valgus,...	OMIM:613385
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad thumb, Broad hallux, Short thumb, Micrognathia, Short philtrum, Pectus excavatum, Hip dyspl...	OMIM:620224
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
X-Linked Mandibulofacial Dysostosis	Pectus excavatum, High palate, Micrognathia, Branchial anomaly	ORPHA:1131
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea, Respiratory failure, Miscarriage	ORPHA:454836
Pulmonary Capillary Hemangiomatosis	Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis	ORPHA:199241
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Respiratory insufficiency, Intestinal malrotation, Joint hypermobility, Tach...	OMIM:613658
Arterial Tortuosity Syndrome	Bifid uvula, Pectus carinatum, Long philtrum, Micrognathia, Joint hypermobility, Arachnodactyly, ...	OMIM:208050
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Median cleft upper lip, Orofacia...	ORPHA:3186
Cardiofaciocutaneous Syndrome 1	Osteopenia, Abnormality of the dentition, Pectus carinatum, Dental malocclusion, Open bite, Micro...	OMIM:115150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Osteopenia, Hip subluxation, Elbow flexion contracture, Generalized joint hy...	ORPHA:1900
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Pe...	ORPHA:1439
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Open bite, Micrognathia, Anodontia, Short palm, Hip dislocation, High, narrow ...	ORPHA:3107
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Narrow chest, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Ov...	OMIM:618268
Congenital Multicore Myopathy With External Ophthalmoplegia	Tented upper lip vermilion, Joint hypermobility, High palate, Flexion contracture, Respiratory fa...	ORPHA:98905
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea, Respiratory failure	ORPHA:36238
Neu-Laxova Syndrome	Osteopenia, Bifid uvula, Rickets, Micromelia, Osteomalacia, Micrognathia, Submucous cleft hard pa...	ORPHA:2671
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Long philtrum, Narrow mouth, Pectus excavatum of inferior sternum, Thin uppe...	OMIM:601353
Noonan Syndrome 4	Dental malocclusion, Abnormal sternum morphology, Pectus excavatum of inferior sternum, Thick ver...	OMIM:610733
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Long philtrum, Camptodactyly of finger, Enlarged thorax, Narrow mou...	ORPHA:261349
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Pectus excavatum, High palate, ...	OMIM:615108
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Death in infancy, Irregular respiration	OMIM:604377
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Pectus excavatum, Microretrognathia, Narrow mouth	OMIM:177980
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Submucous cleft hard palate	OMIM:609166
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to contractures ...	ORPHA:98855
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Dental crowding, Thick lower lip vermilion, Narrow mouth, Arachnodactyly, Short...	ORPHA:3063
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Microdontia, Abnormal fibula morphology, Pectus ex...	ORPHA:1812
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Thoracolumbar kyphoscoliosis, Downturne...	ORPHA:1299
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Open mouth, Protruding tongue, Hypoventilation, Intercostal muscle wea...	ORPHA:258
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory distress, Respiratory insufficiency due to muscle weakness...	ORPHA:308552
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Macroglossia, Broad distal phalanx of finger, Elbow flexion contracture, Hypoplasia of the capita...	OMIM:619194
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Dental crowding, Joint stiffness, Genu valgum, Arachnodactyly, Osteoporosis, Hi...	ORPHA:394
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Clinodactyly of t...	OMIM:616580
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Tracheoesophageal fistula, Esophageal atresia	ORPHA:77298
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Downturned corners of mouth, Thoracic hypoplasia, Widely spaced teeth, Elbow flexion contracture,...	OMIM:300868
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
6Q Terminal Deletion Syndrome	High, narrow palate, Clinodactyly, Micrognathia, Joint hypermobility, Hallux valgus, Aplasia/Hypo...	ORPHA:75857
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum	ORPHA:2835
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Missing ribs, Supernumerary ribs, Rib fusion, Hiatus hernia, Bi...	OMIM:304050
Leopard Syndrome 1	Pectus carinatum, Limited elbow movement, Missing ribs, Scapular winging, Pectus excavatum, Cleft...	OMIM:151100
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R...	ORPHA:289176
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture	OMIM:616733
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Pectus excavatum, High palate, ...	OMIM:615109
Jacobsen Syndrome	Micrognathia, Missing ribs, Brachydactyly, Clinodactyly of the 5th finger, Flexion contracture, P...	OMIM:147791
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:330021
Alpha-Mannosidosis, Infantile Form	Osteopenia, Macroglossia, Pectus carinatum, Cranial hyperostosis, Widely spaced teeth, Joint stif...	ORPHA:309282
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Joint hypermobility, Thick vermi...	OMIM:618106
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Small hand, Carious teeth, Clinodactyly, Downturned corners of mouth, Respiratory di...	ORPHA:177907
Doors Syndrome	Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ...	ORPHA:79500
Marden-Walker Syndrome	Bifid uvula, Pectus carinatum, Camptodactyly of finger, Joint stiffness, Micrognathia, Narrow mou...	ORPHA:2461
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Finger syndactyly, Short hard palate, Pectus excavatum, Genu varum	ORPHA:1969
Amyotrophic Lateral Sclerosis	Dyspnea, Tongue atrophy, Xerostomia, Respiratory failure	ORPHA:803
Farber Disease	Short toe, Abnormal sternum morphology, Short finger, Respiratory distress, Respiratory insuffici...	ORPHA:333
Coffin-Lowry Syndrome	Narrow palate, Bifid sternum, Pectus carinatum, Dental malocclusion, Thick lower lip vermilion, W...	OMIM:303600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Respiratory insufficiency, 11 pairs of ribs, Thick vermilion border, Micrognathia, Mi...	OMIM:620005
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Death in childhood, Hip contr...	OMIM:210710
Chromosome 16P13.3 Duplication Syndrome	Micrognathia, Hip dislocation, Short toe, Cervical C5/C6 vertebrae fusion, Thin upper lip vermili...	OMIM:613458
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Increased anterioposterior diameter of...	OMIM:275210
Allan-Herndon-Dudley Syndrome	Pectus excavatum, Flexion contracture	ORPHA:59
Clapo Syndrome	Macrodactyly, Pectus excavatum, Narrow chest, Capillary malformation of the lip	ORPHA:168984
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Respiratory distress, Overlappin...	OMIM:123790
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Narrow mouth, Mandibular aplasia	ORPHA:990
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Proximal femoral epiphysiolysis, Thick lower lip vermil...	OMIM:162300
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Duodenal atresia, Long philtrum, ...	ORPHA:2308
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Meconium Aspiration Syndrome	Respiratory distress, Hypoxemia	ORPHA:70588
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, High palate, Pectus excavatum	OMIM:300472
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp...	OMIM:608647
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat...	OMIM:615512
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Aganglionic megacolon, Long fibula, Pectus excavatum, Reduced bon...	ORPHA:935
Noonan Syndrome 6	Pectus excavatum, Abnormal sternum morphology	OMIM:613224
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Finger syndactyly, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental...	ORPHA:1071
Mgat2-Cdg	Osteopenia, Dental crowding, Respiratory distress, Open mouth, Brachydactyly, Pectus excavatum	ORPHA:79329
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Exaggerated median tongue furrow, Microglossia, Lon...	OMIM:608670
Adult Acute Respiratory Distress Syndrome	Dyspnea, Respiratory failure	ORPHA:70578
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607748
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Scedosporiosis	Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Respiratory f...	ORPHA:449280
Snakebite Envenomation	Gingival bleeding, Respiratory failure	ORPHA:449285
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Galloway-Mowat Syndrome 3	Micrognathia, Narrow mouth, Arachnodactyly, Hiatus hernia, Camptodactyly, Pectus excavatum, High ...	OMIM:617729
Meier-Gorlin Syndrome 5	Clinodactyly, Slender long bone, Long philtrum, Hypoplasia of the capital femoral epiphysis, Irre...	OMIM:613805
Peripartum Cardiomyopathy	Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Respiratory failure	ORPHA:563
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Osteopenia, Slender long bone, Downturned corners of mouth, Upper limb under...	ORPHA:369837
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Cleft...	OMIM:105650
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Long philtrum, Gingival overgrowth, Mic...	ORPHA:1308
Congenital Heart Block	Cyanosis	ORPHA:60041
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Narrow mouth, Generalized join...	ORPHA:2962
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pectus excavatum, High palate, Micrognathia, Generalized joint hypermobility	ORPHA:502423
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Osteopenia, Microretrognathia, Long philtrum, Prominent protruding coccyx, J...	OMIM:300966
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Downturned corners of mouth, Long philtrum, Micrognathia, Thin upper lip vermilion, Smooth philtr...	OMIM:618548
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synostosis, High palate, Short 1st...	ORPHA:798
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Loeys-Dietz Syndrome	Bifid uvula, Pectus carinatum, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachn...	ORPHA:60030
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Tented upper lip vermilion, Long fingers, Thin vermilion border, Pectus excavatu...	OMIM:614294
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility	ORPHA:335
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Genu varum, Do...	OMIM:616268
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia	ORPHA:860
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ...	OMIM:211380
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Microphthalmia, Syndromic 3	Missing ribs, Supernumerary ribs, Rib fusion, Esophageal atresia, Vertebral fusion, Vertebral hyp...	OMIM:206900
Idiopathic Pulmonary Hemosiderosis	Dyspnea, Respiratory failure	ORPHA:99931
Fraser Syndrome 2	Intestinal malrotation, Narrow mouth, Cutaneous syndactyly, Rectal atresia, Short thorax, Anal at...	OMIM:617666
Monosomy 18Q	Downturned corners of mouth, Open mouth, Joint hypermobility, Arachnodactyly, Short philtrum, Thi...	ORPHA:1600
Cardiofaciocutaneous Syndrome 4	Pectus excavatum, Joint hypermobility	OMIM:615280
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic scoliosis, High palate	ORPHA:79330
Sepsis In Premature Infants	Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Tetrasomy 9P	Bifid uvula, Hypoplastic scapulae, Small hand, Dental crowding, Downturned corners of mouth, Abno...	ORPHA:3310
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteriorly placed anus, Tooth agenesis, Respiratory distress, Narrow mouth, Craniosynostosis, Nar...	ORPHA:1555
Bohring-Opitz Syndrome	Cleft lip, Congenital contracture, Limitation of joint mobility, Prominent palatine ridges, Apnea...	ORPHA:97297
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, High palate, Pectus excavatum, Syndactyly	OMIM:104350
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Congenital hip dislocation, Macroglossia, Broad thumb, Toe syndactyly, Finge...	ORPHA:373
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea	ORPHA:142
Pulmonary Arteriovenous Malformation	Dyspnea, Cyanosis, Hypoxemia, Telangiectasia	ORPHA:2038
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Absence of the sacrum, Butterfly vertebrae, Submucous cleft hard palate	OMIM:617660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Desmosterolosis	Bifid uvula, Micromelia, Intestinal malrotation, Micrognathia, Narrow mouth, Submucous cleft hard...	ORPHA:35107
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Joint hypermobility, Arachnodactyly...	OMIM:601552
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Short neck, High, narrow palate, Prominent fingerti...	OMIM:619950
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Developmental And Speech Delay Due To Sox5 Deficiency	Pectus carinatum, Exaggerated median tongue furrow, Dental crowding, Thoracic kyphoscoliosis, 2-3...	ORPHA:313892
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency	ORPHA:367
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Open mouth, Micrognathia, Eve...	ORPHA:534
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia	OMIM:610978
D-Bifunctional Protein Deficiency	Osteopenia, Thoracic hypoplasia, Long philtrum, Micrognathia, Split hand, Pectus excavatum, High ...	OMIM:261515
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Osteoporosis, Rickets, Death in childhood	OMIM:560000
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Pectus excavatum, High palate, ...	OMIM:158350
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Pectus carinatum, Long philtrum, Widely spaced teeth, Joint hypermobility, Thin uppe...	OMIM:617506
Myopathy, Mitochondrial, And Ataxia	Pectus excavatum, High palate, Micrognathia	OMIM:617675
Tularemia	Respiratory distress, Oral ulcer	ORPHA:3392
Costello Syndrome	Pyloric stenosis, Pectus carinatum, Tracheomalacia, Thick lower lip vermilion, Respiratory insuff...	OMIM:218040
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Broad fingertip, Celiac disease, Dislocated radial head, Cone-shaped ...	OMIM:136140
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Submucous cleft soft palate, Hypodontia, Cl...	ORPHA:69085
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve...	ORPHA:438216
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, High, narrow ...	OMIM:615873
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion, Overlapping toe, Micrognathia...	OMIM:309590
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short hallux, Cleft maxillary alveolar ridge, Short 5th finger, Thin upper lip ve...	ORPHA:508488
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Cleft lip, Clinodactyly, Broad 2nd toe, Widely spaced teeth, Thick...	OMIM:280000
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Thick lower lip vermilion, Persistence of primar...	ORPHA:2785
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Death in childhood, Tachypnea, Pectus excavatum, Respiratory failure	OMIM:618278
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Dislocated radial head, High pal...	OMIM:180849
Aortic Aneurysm, Familial Thoracic 10	Pectus excavatum, High palate, Dental crowding, Joint hypermobility	OMIM:617168
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Broad thumb, Long philtrum, Micrognathia, Intestinal polypos...	ORPHA:109
Ayme-Gripp Syndrome	Craniofacial asymmetry, Abnormality of the dentition, Long philtrum, Narrow mouth, Thin upper lip...	OMIM:601088
Primary Ciliary Dyskinesia	Intestinal malrotation, Neonatal respiratory distress, Respiratory failure, Clubbing	ORPHA:244
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi...	ORPHA:2753
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea	ORPHA:159
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia	ORPHA:555874
Loeys-Dietz Syndrome 1	Bifid uvula, Pectus carinatum, Abnormal sternum morphology, Micrognathia, Joint hypermobility, Ar...	OMIM:609192
Menkes Disease	Narrow chest, Osteomyelitis, Micrognathia, Abnormal palate morphology, Joint hypermobility, Bowin...	ORPHA:565
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Short philtrum, Cleft soft palate, Adducted thumb	ORPHA:293725
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Abnormal distal phalanx morphology of finger, Triphalangeal thum...	ORPHA:2673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture of the proxim...	ORPHA:457279
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Microretrognathia, Slender long bone, Dela...	OMIM:278250
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Hip contracture, Abnormal palate morphology, Narrow iliac wing, Pectus excavatum, F...	ORPHA:3042
Glycogen Storage Disease Due To Acid Maltase Deficiency	Macroglossia, Respiratory insufficiency, Respiratory distress, Exertional dyspnea, Orthopnea, Res...	ORPHA:365
Double Outlet Right Ventricle	Tachypnea, Cyanosis	ORPHA:3426
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate morphology, Abnormal uvula ...	ORPHA:100050
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Respiratory distress, Angular cheilitis, Advanced eruption of teeth	ORPHA:2309
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, High palate	OMIM:619272
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Respiratory distress, Contracture of the d...	ORPHA:83617
Skin Creases, Congenital Symmetric Circumferential, 2	Carious teeth, Micrognathia, Narrow mouth, Microdontia, 2-3 toe syndactyly, Thin upper lip vermil...	OMIM:616734
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Long philtrum, Camptodactyly of finger, Pectus ex...	ORPHA:1101
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, R...	OMIM:607625
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Noonan Syndrome 3	Pectus carinatum, Sagittal craniosynostosis, Shield chest, Left unilambdoid synostosis, Pectus ex...	OMIM:609942
Renpenning Syndrome 1	Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac...	OMIM:309500
Zttk Syndrome	Bifid uvula, Small hand, Abnormality of the dentition, Downturned corners of mouth, Cervical ribs...	OMIM:617140
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Brachydactyly...	OMIM:619680
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Pectus carinatum, Micrognathia, Joint hypermobility, Arac...	ORPHA:536545
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Respiratory failure	ORPHA:542323
Cardiogenic Shock	Dyspnea, Cyanosis, Orthopnea, Hypoxemia	ORPHA:97292
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Absent thumb, Slender long bone, Downturned corners of mouth, Cervical ribs, Submuco...	ORPHA:500150
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
7Q11.23 Microduplication Syndrome	Dental malocclusion, Tracheomalacia, Diastema, Micrognathia, Short lingual frenulum, Joint hyperm...	ORPHA:96121
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Pectus carinatum, Dental malocclusion, Camptodactyly of finger, Joint hypermobility,...	ORPHA:284984
1Q41Q42 Microdeletion Syndrome	Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Joint hypermobility, Arac...	OMIM:601776
Fraser Syndrome 1	Tessier cleft, Dental malocclusion, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of the s...	OMIM:219000
Holoprosencephaly 13, X-Linked	Thoracic hemivertebrae, Median cleft palate, Butterfly vertebrae, Submucous cleft hard palate, Me...	OMIM:301043
Noonan Syndrome 2	Pectus carinatum, Prominent fingertip pads, Long philtrum, Abnormal sternum morphology, Wide mout...	OMIM:605275
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Primary Dystonia, Dyt4 Type	Respiratory distress, Open mouth	ORPHA:98805
Marfan Syndrome	High, narrow palate, Osteopenia, Pectus carinatum, Dental crowding, Open bite, Micrognathia, Join...	ORPHA:558
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Dyspnea, Respiratory failure	OMIM:610505
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Cardiofaciocutaneous Syndrome	Long philtrum, Genu valgum, Submucous cleft hard palate, Abnormal morphology of ulna, Pectus exca...	ORPHA:1340
Carpenter Syndrome 2	Broad thumb, Carious teeth, Cutaneous finger syndactyly, High palate, High, narrow palate, Pectus...	OMIM:614976
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Pectus carinatum, Abnormal sternum morphology, Microg...	OMIM:610168
3-Methylglutaconic Aciduria, Type Viii	Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Respiratory failure	OMIM:617248
Noonan Syndrome	Osteopenia, Pectus carinatum, Thick lower lip vermilion, Micrognathia, Joint hypermobility, Radio...	ORPHA:648
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Microretrognathia, Tracheomalacia, Respiratory insufficiency, Tented upper lip ver...	OMIM:620371
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Respiratory failure	ORPHA:88618
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Stippled calcification in carpal bones, Tachypnea, Exertional dyspnea,...	ORPHA:60025
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hypodontia, Neonatal respiratory distress, Respiratory failure	ORPHA:209905
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets	OMIM:211600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Respiratory distress, Joint stiffness, Barrel-shaped chest, Thick vermilion bor...	ORPHA:505248
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Limited elbow movement, Short foot, Sho...	OMIM:261540
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Open mouth, Joint hypermobility, Postaxial polydactyly, Hip dysplasia, Clinodactyly...	ORPHA:457284
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Oromandibular Dystonia	Respiratory distress, Abnormal lip morphology	ORPHA:93958
Atrial Septal Defect, Ostium Primum Type	Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis	ORPHA:99106
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Ethylene Glycol Poisoning	Tachypnea, Cyanosis, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Large joint hypermobilty, Cleft soft palate, Kyphoscoliosis...	OMIM:614557
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Marfan Syndrome	Narrow palate, Pectus carinatum, Dental crowding, Premature osteoarthritis, Micrognathia, Limited...	OMIM:154700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Intellectual Developmental Disorder, Autosomal Dominant 42	Limited elbow extension, Joint hypermobility, Short philtrum, Adducted thumb, Pectus excavatum, H...	OMIM:616973
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Limitation of joint mobility, Overlapping toe, High palate, Anal a...	ORPHA:480880
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions, Cyanosis	ORPHA:1329
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft pa...	OMIM:619103
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice	ORPHA:26793
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndact...	OMIM:620025
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, High palate, Thin upper lip...	OMIM:300855
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Respiratory failure, Respiratory insufficiency	ORPHA:746
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Bilateral Perisylvian Polymicrogyria	Apnea, Micrognathia, Protruding tongue, Distal arthrogryposis, Pectus excavatum, Flexion contracture	ORPHA:98889
Restrictive Dermopathy	Thin ribs, Osteopenia, Microcolon, Natal tooth, Camptodactyly of finger, Increased anterioposteri...	ORPHA:1662
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Long philtrum, Advanced eruption of teeth, Orofacial cleft, Brachyd...	ORPHA:1519
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Bifid uvula, Cleft upper lip, Camptodactyly of finger, Long philtrum, 11 pairs ...	OMIM:607872
Viss Syndrome	Genu valgum, Cleft soft palate, Micrognathia, Contracture of the proximal interphalangeal joint o...	OMIM:619472
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure	OMIM:620296
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Respiratory distress, Polydacty...	ORPHA:404448
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Cleft soft palate, Narrow mouth, Micrognathia, Hip contracture, Hig...	OMIM:619503
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11...	ORPHA:2044
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure	OMIM:620327
Fibromuscular Dysplasia, Multifocal	Dental crowding, Micrognathia, Joint hypermobility, Hiatus hernia, Pectus excavatum, High palate	OMIM:619329
Esophageal Atresia	Barrett esophagus, Cleft lip, Clinodactyly, Respiratory distress, Intestinal malrotation, Esophag...	ORPHA:1199
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, High palate, Prominent fingertip pads, Mesoaxial foot...	OMIM:612474
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Micrognathia, Radioulnar synostosis, High palate, Short foot, Hip dis...	ORPHA:199
Noonan Syndrome 10	Pectus carinatum, High palate, Pectus excavatum	OMIM:616564
Poliomyelitis	Stiff neck, Paralytic ileus, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:2912
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Abnormal fingertip morphology, Respiratory distress, Erosion of ...	ORPHA:79404
Atrial Septal Defect, Coronary Sinus Type	Dyspnea, Exertional dyspnea, Cyanosis	ORPHA:99104
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Asymmetry of the thorax, Cone-shaped epiphysis, Short fin...	OMIM:619841
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture, Micrognathia, Rhizomelia	OMIM:616271
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Diamond-Blackfan Anemia	Cleft lip, Absent thumb, Short thumb, Cleft soft palate, Micrognathia, Partial duplication of thu...	ORPHA:124
Congenital Heart Defects, Multiple Types, 9	Pectus excavatum, Miscarriage	OMIM:620294
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s...	OMIM:300967
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short neck, Cleft soft palate, Submucous cleft soft palate	ORPHA:2282
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Rib exostoses, 2-4 toe syndactyly, Carious teeth, Chronic gastritis, Cone-shaped epip...	OMIM:150230
Walker-Warburg Syndrome	Bifid uvula, Cleft palate, Metatarsus valgus, Submucous cleft hard palate	ORPHA:899
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Pectus excavatum, Joint hypermobility	OMIM:219100
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration	ORPHA:506
Cutis Laxa, Autosomal Recessive, Type Ib	Micrognathia, Death in childhood, Joint hypermobility, Arachnodactyly, Bowing of the long bones, ...	OMIM:614437
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced teeth, Cleft soft pa...	ORPHA:268261
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cyanosis	OMIM:261740
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Atrial Septal Defect, Ostium Secundum Type	Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:99103
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Micrognathia, Everted lower lip vermilion, Anal atresia, ...	OMIM:601803
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Short humerus, Polydactyly, Orofacial cleft, Flexion contracture, Sh...	ORPHA:17
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Long philtrum, Joint hypermobility, Deep philtrum, Thick vermilion border, Finger joint hypermobi...	OMIM:613563
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Micrognathia, Wide mouth, Abnormal parotid gland morphology, Cle...	OMIM:154500
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Delayed eruption of teeth, Long philtrum, ...	ORPHA:2834
Mccune-Albright Syndrome	Aneurysmal bone cyst, Dental malocclusion, Osteomalacia, Monostotic fibrous dysplasia, Abnormal f...	ORPHA:562
Criss-Cross Heart	Cyanosis	ORPHA:1461
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Polydactyly, Thin...	OMIM:301022
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis	ORPHA:1867
Dyrk1A-Related Intellectual Disability Syndrome	Acromesomelia, Toe syndactyly, Multiple joint contractures, Polydactyly, Arachnodactyly, Hallux v...	ORPHA:464306
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Radial deviation of finger, Clinodactyly, Abnormal ster...	OMIM:163950
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Broad ribs, Abnormal long bone morphology, Abnormal metacarp...	ORPHA:228123
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Celiac Disease, Susceptibility To, 1	Rickets, Celiac disease, Recurrent aphthous stomatitis, Enamel hypoplasia, Steatorrhea, Osteoporo...	OMIM:212750
1P36 Deletion Syndrome	Long philtrum, Camptodactyly of finger, Joint stiffness, Clinodactyly of the 5th finger, 11 pairs...	ORPHA:1606
Neuroocular Syndrome 1	Short uvula, Prominent fingertip pads, Downturned corners of mouth, Tibial torsion, Hyperextensib...	OMIM:619539
Cowden Syndrome	Furrowed tongue, Bone cyst, Brachydactyly, Pectus excavatum, High palate, Macroglossia, Hamartoma...	ORPHA:201
3-Methylglutaconic Aciduria Type 7	Respiratory failure	ORPHA:445038
Congenital Tracheomalacia	Dyspnea, Apnea, Cyanosis, Intercostal retractions	ORPHA:95430
Hardikar Syndrome	Unilateral cleft lip, Celiac disease, Intestinal malrotation, Cleft soft palate, Bilateral cleft ...	OMIM:301068
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te...	OMIM:610655
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Agan...	ORPHA:1051
Double Outlet Left Ventricle	Tachypnea, Cyanosis	ORPHA:3427
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Cyanosis	OMIM:620423
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Sprengel anomaly, Pectus excavatum, Scapular winging	ORPHA:500
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short tibia, Short femur	OMIM:620306
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Velopharyngeal insufficiency, Micrognathia, Submucous c...	OMIM:619325
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal irregularity, Metaphyseal cupping, Irregular iliac crest, Long philtrum, Respiratory ...	ORPHA:99646
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Anal atresia, Respiratory failure, Non-midline cleft of the upper l...	ORPHA:647
Listeriosis	Respiratory distress, Osteomyelitis, Stiff neck, Septic arthritis, Respiratory failure, Miscarriage	ORPHA:533
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee...	OMIM:223370
Neurofibromatosis-Noonan Syndrome	Pectus excavatum, Pectus excavatum of inferior sternum, Superior pectus carinatum, Thick vermilio...	OMIM:601321
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607765
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal rectum morphology, Abnormal dental enamel morphology, Micrognathia...	ORPHA:2556
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Short toe, Flexion contracture of finger, Pectus excavatum, Short foot...	ORPHA:464311
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:252010
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Micrognathia, Esophageal neoplasm, Cheilitis, Respiratory ...	ORPHA:125
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Anal atresia, High palate, Rectal...	OMIM:309800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Death in infancy	OMIM:617156
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis	ORPHA:2299
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd...	OMIM:603671
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang...	OMIM:187300
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Fat malabsorption, Rickets	ORPHA:79303
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Primrose Syndrome	Short distal phalanx of finger, Narrow chest, Downturned corners of mouth, Thick lower lip vermil...	OMIM:259050
Fanconi-Bickel Syndrome	Bowing of the long bones, Osteopenia, Rickets	ORPHA:2088
Malignant Atrophic Papulosis	Respiratory failure, Intestinal fistula, Intestinal perforation	ORPHA:679
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Duplicated colon, Anteriorly placed anus, Inte...	OMIM:258040
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt...	OMIM:619321
Koolen-De Vries Syndrome Due To A Point Mutation	Pectus carinatum, Prominent fingertip pads, Tracheomalacia, Abnormal dental morphology, Open mout...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pectus carinatum, Prominent fingertip pads, Tracheomalacia, Abnormal dental morphology, Open mout...	ORPHA:363958
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Absence Of The Pulmonary Artery	Dyspnea, Orthopnea, Cyanosis, Hypocapnia	ORPHA:980
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Everted upper lip vermilion, Respiratory distress...	OMIM:305100
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Death in early adultho...	ORPHA:904
Congenital Disorder Of Deglycosylation 1	Small hand, Respiratory distress, Open mouth, Osteoporosis, Short foot	OMIM:615273
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Bifid uvula, Scoliosis, Dental malocclusion, Sandal gap, Broad hall...	OMIM:300166
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Tachypnea, Arthritis, Septic arthritis	ORPHA:36234
Abetalipoproteinemia	Steatorrhea, Osteopenia, Fat malabsorption, Respiratory failure	ORPHA:14
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Ankyloglossia, Micrognathia, Osteoporosis, Supernumerary tooth, P...	OMIM:619525
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Cleft palate, Pierre-Robin...	OMIM:192430
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Decreased skull ossification, F...	OMIM:216340
Lymphatic Malformation 6	Pectus excavatum, Micrognathia, Intestinal lymphangiectasia	OMIM:616843
Cystinosis	Rickets	ORPHA:213
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Narrow chest, Neonatal respiratory distress, Narrow mouth	OMIM:614748
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture, Stiff neck, Irr...	ORPHA:79139
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Genu valgum, Micrognat...	ORPHA:363700
Eosinophilic Granulomatosis With Polyangiitis	Acrocyanosis, Cutis marmorata, Purpura, Urticaria	ORPHA:183
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea, Cyanosis	ORPHA:141127
Unilateral Polymicrogyria	Apnea, Cyanosis	ORPHA:268943
Congenital Alveolar Capillary Dysplasia	Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malrotation, Aganglionic megacolon,...	ORPHA:210122
Tolchin-Le Caignec Syndrome	Micrognathia, Narrow mouth, Submucous cleft hard palate, Arachnodactyly, Clinodactyly of the 5th ...	OMIM:618971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Meckel Syndrome 14	Cyanosis	OMIM:619879
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndactyly, Pectus carin...	ORPHA:261537
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Oculopharyngodistal Myopathy 1	Respiratory distress, High palate, Respiratory insufficiency due to muscle weakness	OMIM:164310
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Riddle Syndrome	Neonatal asphyxia, Respiratory failure, Arthritis	ORPHA:420741
Bickerstaff Brainstem Encephalitis	Dyspnea, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:79138
Lujo Hemorrhagic Fever	Respiratory distress, Purpura, Ecchymosis	ORPHA:319213
45,X/46,Xy Mixed Gonadal Dysgenesis	Micrognathia, Short 4th metacarpal, Hallux valgus, High palate, Pectus excavatum, Short metatarsal	ORPHA:1772
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Downturned corners of mouth, Exaggerated cupid's bow	ORPHA:2131
Lymphangiectasia, Pulmonary, Congenital	Pectus excavatum	OMIM:265300
Histiocytoid Cardiomyopathy	Tachypnea, Cyanosis	ORPHA:137675
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Everted lower lip vermilion, Syndactyly, Pectus carin...	ORPHA:2152
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Ileus, Abnormal intestine morphology, Gastritis, Colitis	ORPHA:37042
Nocardiosis	Respiratory distress, Osteomyelitis, Dyspnea, Respiratory failure	ORPHA:31204
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Idiopathic Hypereosinophilic Syndrome	Swelling of proximal interphalangeal joints, Respiratory distress, Colitis, Arthritis, Dyspnea, M...	ORPHA:3260
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Colitis, Steatorrhea, Osteoporosis	ORPHA:309031
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Exertional dyspnea, Cyanosis	ORPHA:99050
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:340
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Narrow mouth, Synovitis, Irregular sclerotic endplates, Osteopenia, Hypoplastic ilia...	ORPHA:3455
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Micrognathia, Hypoventilation, Fat malabsorption, Respiratory failure...	ORPHA:731
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory distress, Posteri...	OMIM:306955
Neuroblastoma	Respiratory distress, Pathologic fracture	ORPHA:635
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachydactyly, Nasal flaring, Wide mouth, ...	ORPHA:466943
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Congenital hip dislocation, Abnormality of the dentition, Carious teeth, Per...	ORPHA:286
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Cryptococcosis	Respiratory distress, Osteomyelitis, Dyspnea, Osteolysis	ORPHA:1546
Isolated Arrhinia	Respiratory distress, Tessier cleft	ORPHA:1134
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Pectus carinatum, Delayed eruption of te...	OMIM:235730
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Joint hypermobil...	ORPHA:3047
Waardenburg Syndrome, Type 2E	Pectus excavatum	OMIM:611584
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Intestinal pseudo-obstruction, Respiratory insufficiency, Respi...	ORPHA:273
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndactyly, Pectus carin...	ORPHA:261552
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Increased susceptibility to fractures, Respiratory insufficiency due to mu...	ORPHA:18
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Periodontitis, Metacarpophalangeal ...	OMIM:130050
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Pectus excavatum, Bone cyst, Joint hypermobility	OMIM:613675
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Williams-Beuren Syndrome	Osteopenia, Colonic diverticula, Dental malocclusion, Long philtrum, Celiac disease, Thick lower ...	OMIM:194050
Pitt-Hopkins Syndrome	Hyperventilation, Acrocyanosis, Abnormal pattern of respiration	ORPHA:2896
Cardiac Diverticulum	Aplasia/Hypoplasia of the sternum	ORPHA:1686
Poems Syndrome	Acrocyanosis, Plethora	ORPHA:2905
Cystinosis, Nephropathic	Rachitic rosary, Rickets, Genu valgum, Hypophosphatemic rickets, Metaphyseal widening	OMIM:219800
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle...	OMIM:157170
Q Fever	Respiratory distress, Purpura	ORPHA:781
Toxic Epidermal Necrolysis	Respiratory distress, Erythema	ORPHA:537
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Cervical ribs	ORPHA:2255
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Cocaine Intoxication	Respiratory distress, Colitis, Tachypnea, Hyperventilation, Intestinal perforation	ORPHA:90068
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Rickets, Camptodactyly of finger, Pathologic frac...	OMIM:309000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Hallux valgus, Pectus excavatum, Gastric ulcer, Esophageal varix	ORPHA:2072
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia	OMIM:600740
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Hypoventilation, Central hypoventilation	ORPHA:293987
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Flexion contracture, Submucous cleft hard palate	OMIM:618891
Goodpasture Syndrome	Tachypnea, Exertional dyspnea, Cyanosis	OMIM:233450
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Pectus excavatum	OMIM:162200
Eisenmenger Syndrome	Respiratory distress, Hypoxemia, Exertional dyspnea, Cyanosis	ORPHA:97214
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Hutchinson-Gilford Progeria Syndrome	Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Exertional dyspnea, Prominen...	ORPHA:740
Generalized Arterial Calcification Of Infancy	Osteomalacia, Respiratory distress, Abnormal hip joint morphology, Hypophosphatemic rickets, Abno...	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287
Hypomagnesemia 3, Renal	Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Short metaca...	OMIM:248250
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea	ORPHA:99125
Sotos Syndrome	Ankle flexion contracture, Abnormality of the dentition, Agenesis of permanent teeth, Hip contrac...	ORPHA:821
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Esophageal varix	OMIM:277900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Xerostomia, Oral synechia, Respiratory distress, Oral mucosal blisters, Abnormality of the anus, ...	ORPHA:95455
Truncus Arteriosus	Tachypnea, Cyanosis	ORPHA:3384
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency	ORPHA:646
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Osteomalacia, Osteomyelitis, Villous atrophy, Oral ulcer, Gastritis, Arthrit...	OMIM:619381
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Scimitar Syndrome	Respiratory distress	ORPHA:185
Plague	Inflammation of the large intestine, Chapped lip, Respiratory distress, Ileitis, Enterocolitis, A...	ORPHA:707
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Dermatomyositis	Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ...	ORPHA:221
Postinfectious Vasculitis	Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin	ORPHA:48435
Aicardi-Goutières Syndrome	Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis	ORPHA:51
Gitelman Syndrome	Respiratory distress, Gout	ORPHA:358
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc...	ORPHA:287
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia	ORPHA:405
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Leptospirosis	Respiratory distress, Jaundice	ORPHA:509
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Pmm2-Cdg	Osteopenia, Long philtrum, Respiratory distress, Multiple joint contractures, Joint hypermobility...	ORPHA:79318
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis, Bruising susceptibility	ORPHA:285
Alström Syndrome	Short toe, Short finger, Respiratory distress, Tooth agenesis, Gingivitis, Thoracic scoliosis, Ab...	ORPHA:64

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 Sox5

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 Sox5.

No publications found that use IMPC mice or data for Sox5.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sox5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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