Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired related homeobox 1
Synonyms:
K-2,  Prx1,  mHox,  Pmx1,  mHox,  A230024N07Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Prrx1 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.

The table below shows human diseases associated to Prrx1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Prrx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome
Amelia OMIM:601360
Amelia And Terminal Transverse Hemimelia
Amelia OMIM:104400
Hhhh Syndrome
Hemiatrophy OMIM:306960
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Bilateral external ear deformity, Ulnar deviation of the hand, Aceta... ORPHA:93307
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Long p... OMIM:228520
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Wide anterior... OMIM:201170
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Microphthalmia With Limb Anomalies
Sandal gap, High palate, Postaxial hand polydactyly, Foot oligodactyly, Low-set ears, Camptodacty... OMIM:206920
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... OMIM:108721
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, Hypoplastic cerv... OMIM:114290
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Dental crowding, Pes planus, Sandal gap, Large basal ganglia, High ... OMIM:210600
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Nasogastric tube feeding in infancy, Increased suscep... ORPHA:251028
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Radioulnar synostosis, Elbow dislo... OMIM:171480
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Overfolded helix, Camptod... OMIM:300373
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Moyamoya phenomenon, Short distal phalanx of finger, Ulnar bowing, Narrow pelv... OMIM:210720
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica... ORPHA:93320
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Long nose, Short di... OMIM:184460
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow disloc... ORPHA:1106
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Abnormality of the stapes, Short distal phalanx of finge... ORPHA:798
Marshall Syndrome
Wide tufts of distal phalanges, Sensorineural hearing impairment, Meningeal calcification, Irregu... OMIM:154780
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteri... ORPHA:1972
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Hypoplasia of olfactory tract, Respiratory insuffi... ORPHA:140
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... OMIM:227270
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Hypoplasia of the ulna, Thin upper lip vermilion, Low... ORPHA:357175
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Tooth malposition, Abnormality of the pinna, Micrognathia, Osteolytic de... OMIM:277150
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Phocomelia, Schinzel Type
Abnormality of tibia morphology, High, narrow palate, Micrognathia, Short neck, Ectrodactyly, Hyp... ORPHA:2879
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Hypoplasia of the ulna, ... OMIM:615162
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Mesomelia, Hypoplasia of the ulna, Abnormality of the pinna, Respiratory insu... OMIM:228940
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... ORPHA:314795
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Camptodactyly... ORPHA:96334
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Respiratory distress, Feeding difficulties, Macrotia, Hypoplasia of the corpus callosu... OMIM:300934
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Ulnar deviation of the hand, Stenosis of the external auditory canal, Cutis mar... OMIM:602613
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... ORPHA:2616
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Mandibular prognathia, Pes pl... OMIM:223800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, ... OMIM:609945
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Short neck, D... ORPHA:1832
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Arrhinencephaly, Abnormal form of th... ORPHA:1788
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes pla... OMIM:143095
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Wide na... ORPHA:2256
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Sensorineural hearing impairment, Phocomelia, Micrognathia... ORPHA:3320
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca... ORPHA:321
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow greater sciatic ... OMIM:617925
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, E... OMIM:264700
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Subperiosteal bone resorption, Delayed erupt... OMIM:277440
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Short neck, Narrow mouth, Aplasia/Hypopl... OMIM:251230
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Small earlobe, Wormian bones, Short metatarsal, Narrow mouth, D... OMIM:211910
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, High, narrow palate, Uln... OMIM:600920
Cartilage-Hair Hypoplasia
Scoliosis, Spinal dysraphism, Respiratory insufficiency, Abnormality of the metaphysis, Abnormali... ORPHA:175
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Short nose, Absent tragus, Overfolded he... ORPHA:79113
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Genu recurvatum, Protuberant abdomen, Limb undergrowth, Sho... ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Geroderma Osteodysplasticum
Wormian bones, Mandibular prognathia, Camptodactyly, Increased susceptibility to fractures, Femor... OMIM:231070
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Horizontal sacr... OMIM:112350
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Intestinal malrotation, Aqueduc... ORPHA:3035
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Sensorineural h... ORPHA:949
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Kinsship Syndrome
Scoliosis, Downturned corners of mouth, Polydactyly, Pes planus, Mandibular prognathia, Death in ... OMIM:619297
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Short philtrum, Feeding difficulties, Rhizomelia, Patent d... OMIM:607143
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Melnick-Needles Syndrome
Pes planus, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hypertension, Con... OMIM:309350
Otoonychoperoneal Syndrome
Macrotia, Prominent superior crus of antihelix, Posteriorly rotated ears, Low-set ears, Aplasia/H... OMIM:259780
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Conduct... ORPHA:2878
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow dislocation, Flared iliac wing, Hy... ORPHA:90652
Temple Syndrome
Scoliosis, Joint hypermobility, Short philtrum, Feeding difficulties, Recurrent otitis media, Fle... OMIM:616222
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Low-set ears, Fibular hypoplasi... OMIM:113470
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Pes planus, Camptodactyly, Agenesis o... OMIM:311450
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Sleep apnea, Downturned corners of mouth, Patent ductus arteriosu... ORPHA:444077
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Femoral-Facial Syndrome
Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p... ORPHA:1988
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Increased bone mineral density, Cerebral calcification, Spina bifida... ORPHA:2780
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Smith-Magenis Syndrome
Scoliosis, Broad palm, Abnormality of the forearm, Pes planus, Mandibular prognathia, Morphologic... OMIM:182290
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Respiratory distress, C... OMIM:156550
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... ORPHA:1738
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Slc35A2-Cdg
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Hip subluxation, Craniosynos... ORPHA:356961
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Long philtrum, Osteoporosis, Short nose, Downturned corners of mouth, Open mouth, Deep... OMIM:615398
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth f... ORPHA:2839
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Respiratory distress, Protuberant abdom... OMIM:617102
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High palate, Elbow fl... OMIM:276820
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... OMIM:263750
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Atresia of the extern... OMIM:614900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ... OMIM:618363
Moebius Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short phalanx of finger, Split h... OMIM:157900
Alagille Syndrome
Short philtrum, Abnormal form of the vertebral bodies, Micrognathia, Long nose, Peripheral pulmon... ORPHA:52
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Fla... OMIM:184260
Fountain Syndrome
Scoliosis, Short distal phalanx of finger, Abnormality of the metacarpal bones, Erythema, Sensori... ORPHA:3219
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal aortic arch morpholo... ORPHA:1110
Acrorenal-Mandibular Syndrome
Narrow palate, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion contracture, R... OMIM:200980
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing ... ORPHA:85166
Kniest-Like Dysplasia, Lethal
Narrow mouth, Metaphyseal irregularity, Patent ductus arteriosus, Short neck, Hypoplastic vertebr... OMIM:245190
Distal Trisomy 5Q
Long philtrum, Hypoplasia of the radius, Thin vermilion border, Carious teeth, Narrow mouth, Shor... ORPHA:96097
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Subperiosteal bone resor... ORPHA:289157
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, H... OMIM:236640
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Bruising susceptibility, Recurrent fractures, O... OMIM:166200
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Achondrogenesis Type 1A
Long philtrum, Short neck, Short nose, Abnormal enchondral ossification, Recurrent fractures, Umb... ORPHA:93299
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Cleft upper lip, Cleft palate,... OMIM:613885
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, High palat... OMIM:611890
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Short neck, Wide anterior fontane... ORPHA:2347
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Rhyns Syndrome
Radial bowing, Conductive hearing impairment, Pituitary hypothyroidism, Short femoral neck, Osteo... OMIM:602152
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Respiratory distress, Square pel... ORPHA:166272
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... OMIM:245160
Phaver Syndrome
Broad thumb, Overfolded helix, Broad hallux phalanx, Joint stiffness, Short thumb, Abnormality of... ORPHA:2876
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Increased bone mineral density, Sensorineural hearing impairment, Rickets of th... ORPHA:289176
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder mo... OMIM:218600
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Wide anterior fontanel, Joint laxity, Ext... OMIM:610915
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... OMIM:166210
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Intestinal malrotation, Peripheral pu... ORPHA:2712
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... ORPHA:1505
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hearing abnormality, Hypoplasia of the ulna, Wide nasal bridge, Cl... ORPHA:1352
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Ivic Syndrome
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Patent ductus ... OMIM:147750
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Gastroesophageal reflux, Hypoplasia of the ulna, Wide nasal bridge... OMIM:600123
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Aarskog-Scott Syndrome
Pes planus, Oral cleft, Short neck, Broad foot, Hypoplasia of the maxilla, Long philtrum, Genu re... ORPHA:915
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Cerebral atro... OMIM:258860
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Macrotia, Recurrent otitis media, 2-3 toe syndactyly, Patent ductus arterios... ORPHA:3304
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, S... OMIM:613091
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Wormian bones, Short neck, Talipes, Low-set, posteriorly rotated ears, Abnormal palate... ORPHA:1533
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Heart And Brain Malformation Syndrome
Global brain atrophy, High, narrow palate, Wide anterior fontanel, Hypoplasia of the corpus callo... OMIM:616920
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia OMIM:269870
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Nasogastric tube feeding in infancy, Talipes equinovalgus, Limb undergrowth, ... ORPHA:453510
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ec... ORPHA:2345
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Long philtrum, Wide anterior fontanel, Lambdoidal cr... OMIM:207410
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Narrow mouth, Short neck, Respi... OMIM:266910
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of the pinna, Aplasia/Hypoplasia of the radius, T... ORPHA:916
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Respiratory failure requiring assisted ventila... ORPHA:79345
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Aplasia/Hypoplasia of the fibula,... ORPHA:2632
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Wrist flexion contracture, Metacarpo... OMIM:619110
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Short philtrum, Upper limb undergrowth, Broad thumb, Tooth malposit... ORPHA:529962
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Scoliosis, Sleep apne... ORPHA:1452
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Tetrasomy 5P
Lipoma of corpus callosum, Pulmonary arterial hypertension, High palate, Cyanosis, Short neck, Mi... ORPHA:3309
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Purpura, Ulnar bowing, Petechiae, Syndactyly, Sensorineural hearing impairment, Pr... OMIM:605432
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Pes planus, Campto... OMIM:182212
Pallister-Hall Syndrome
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... ORPHA:672
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, ... OMIM:300484
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Trisomy 20P
Scoliosis, Thin vermilion border, Abnormality of the antihelix, Downturned corners of mouth, Micr... ORPHA:261318
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Overfolded ... ORPHA:2759
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Malar flattening, Fibular hypoplasia, Lower limb asymmetr... OMIM:608571
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphag... OMIM:614399
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Long philtrum, Abnormality of the antihelix, Craniosynostosis, Finger sy... ORPHA:178303
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Patent ductus arteriosus, Short neck, Micrognathia, Wide anterior fo... OMIM:217980
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Posterior scalloping of vertebra... OMIM:603546
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Spinal dysraphism, Anencephaly, Micr... ORPHA:1908
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Scoliosis, Platyspondyly, Hypoplastic p... OMIM:304950
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality... ORPHA:2768
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Perching Syndrome
Respiratory distress, Feeding difficulties, Dysphagia, Camptodactyly, Flexion contracture, High p... OMIM:617055
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneu... ORPHA:99772
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Conductive hearing impairment, Partial duplication of the distal phala... ORPHA:2669
Omodysplasia 1
Anterolateral radial head dislocation, Increased fibular diameter, Pulmonary artery stenosis, Mic... OMIM:258315
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phal... ORPHA:536467
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Agenesis of corpus callosum, Cond... OMIM:136760
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Metap... OMIM:618395
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Micromelia ORPHA:168555
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:601390
Neu-Laxova Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Cerebral calcificatio... ORPHA:2671
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Abnormal aortic morphology, Respiratory insufficiency, Tooth agenesis, Cerebral cor... ORPHA:1166
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Short distal phalanx of finger, High palate, High, narrow palate... OMIM:218330
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Absent radius, Triph... OMIM:154400
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Narrow mouth, Joint laxity, Elbow dislocation, Camptodactyly, Atresia of th... OMIM:224690
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Atresia of the external auditory canal, Hypoplasia o... ORPHA:3186
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... ORPHA:1120
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosu... OMIM:201000
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, C... OMIM:183900
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Atresia of the external auditory canal, Sen... OMIM:615546
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... OMIM:274000
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Mucopolysaccharidosis Type 2, Attenuated Form
Sleep apnea, Spinal cord compression, Sensorineural hearing impairment, Hip dysplasia, Macrogloss... ORPHA:217093
Trisomy 8P
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, 3-4 finger cutaneous s... ORPHA:264450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Pes planus, High palate, Short femoral neck, Flat capital ... OMIM:612350
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Cutaneous syndactyly of toes, Deep palmar crease, Temporomandibular jo... ORPHA:2872
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Myelomeningocele, Feeding difficulties, Micrognathia, Conductiv... ORPHA:1393
Cri-Du-Chat Syndrome
Scoliosis, Short metatarsal, Downturned corners of mouth, Premature graying of hair, Abnormal res... OMIM:123450
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Overfolded helix, Respiratory insufficiency, Abnormality of the met... ORPHA:628
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Thin vermilion border, Joint hypermobility, Narrow palate, Narrow mouth... OMIM:234100
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Arthrogryposis multiplex congenita, Mandibula... OMIM:618622
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormality of the vertebral column, Abnor... OMIM:184705
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Abnormal palate... ORPHA:245
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, Myelomeningocele, 1-2 finger syndactyly, Hypoplastic helices... ORPHA:2437
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Mucopolysaccharidosis Type 2, Severe Form
Sleep apnea, Spinal cord compression, Sensorineural hearing impairment, Hip dysplasia, Macrogloss... ORPHA:217085
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De... ORPHA:776
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia... OMIM:216300
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, Congenital hip dislocation, Joint laxity, Sensorineural heari... ORPHA:98914
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, Congenital hip dislocation, Joint laxity, Sensorineural heari... ORPHA:590
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Fanconi Anemia
Scoliosis, Abnormal carotid artery morphology, Pes planus, Patent ductus arteriosus, High palate,... ORPHA:84
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... OMIM:170390
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, High palate, Microcephaly, Clinodactyly, Protruding ear, Macrocephaly, T... ORPHA:85279
Satb2-Associated Syndrome Due To A Pathogenic Variant
Joint hypermobility, Broad thumb, High palate, Micrognathia, Long philtrum, Gastroesophageal refl... ORPHA:576283
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Hydrocephalus, Limited el... ORPHA:15
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joint laxity, Pes p... ORPHA:439822
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal form of the vertebral bodies, Conductive hearing i... ORPHA:93262
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Macrocephaly, Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posterio... ORPHA:1307
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Metaphyseal dysplasia, Genu varum, ... OMIM:250460
Tarp Syndrome
Scoliosis, Small earlobe, Abnormality of the antihelix, Tongue nodules, Postaxial polydactyly, Al... ORPHA:2886
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Pierre-Robin sequence, Conductive hearing impairment, Morbus Scheuerman... OMIM:108300
Coffin-Lowry Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Sleep apnea, Narrow palate, Open mouth, Pes plan... ORPHA:192
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteri... ORPHA:1926
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Pes planus, Mandibular prognathia, Thoracic kyphosis, Hyperm... ORPHA:508498
Diaphanospondylodysostosis
Lumbosacral meningocele, Short neck, Short nose, Respiratory distress, Protuberant abdomen, Verte... OMIM:608022
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Broad thumb, Narrow mouth, Broad hallux phalanx, Wide nasal bri... ORPHA:261295
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Short nose, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Thin up... ORPHA:2015
Kniest Dysplasia
Laryngotracheomalacia, Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification,... ORPHA:485
Martsolf Syndrome 1
Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Broad fingertip, High p... OMIM:212720
Fryns Syndrome
Intestinal malrotation, Short distal phalanx of finger, Cerebral cortical atrophy, High palate, S... ORPHA:2059
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Generalized Arterial Calcification Of Infancy
Abnormal hip joint morphology, Sensorineural hearing impairment, Cerebral calcification, Vomiting... ORPHA:51608
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Aplastic clavicle, Micrognathia, Distal shortening o... ORPHA:50945
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Dubowitz Syndrome
Scoliosis, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Respiratory insufficiency... ORPHA:235
Desmosterolosis
Narrow mouth, Intestinal malrotation, Patent ductus arteriosus, Increased bone mineral density, M... ORPHA:35107
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Gorham-Stout Disease
Abnormality of facial skeleton, Spinal cord compression, Pathologic fracture, Cortical irregulari... ORPHA:73
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares OMIM:613124
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Agenesis of corpus callosum, Respiratory distress, Feeding difficulties, Micr... ORPHA:89844
Distal Tetrasomy 15Q
Scoliosis, Craniosynostosis, Camptodactyly, Kyphosis, Patent ductus arteriosus, Hypoplastic aorti... ORPHA:314588
Duane-Radial Ray Syndrome
Scoliosis, Pes planus, Sandal gap, Absent radius, Sensorineural hearing impairment, Short thumb, ... OMIM:607323
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Short distal phalanx of finger, Short neck, Hypop... OMIM:269150
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductive hearing impairment,... ORPHA:2549
Short-Rib Thoracic Dysplasia 12
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Patent ductus arteriosus, ... OMIM:269860
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Restrictive ventilatory defect, Short nose, Macrotia, 2-3 toe syndactyly, Flexion cont... OMIM:218000
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external auditory can... OMIM:615706
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Scoliosis, Joint laxity, Patent ductus arteriosus, Postaxial polydactyly, Hip dysplasia, Long phi... OMIM:300968
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Dental crowding, Patent ductus arteriosus, High pa... OMIM:130720
Schneckenbecken Dysplasia
Macrocephaly, Short neck, Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hy... ORPHA:3144
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Talipes, Elbow ankylosis,... ORPHA:2557
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Short ribs, Umbilical hernia, Absent or minimally ossified vertebra... OMIM:600972
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Scoliosis, Narrow palate, Hypoplastic frontal sinuses, Persiste... OMIM:119600
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cl... ORPHA:1104
Ear-Patella-Short Stature Syndrome
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... ORPHA:2554
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Dental crowding, Atresia of the external auditory canal, Sensorineural ... ORPHA:2789
Nail-Patella Syndrome
Scoliosis, Pes planus, Iliac horns, Sensorineural hearing impairment, Antecubital pterygium, Quad... OMIM:161200
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Thin vermilion border, Hematochezia, Low-set, posteriorly ro... ORPHA:261311
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300554
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent antihelix, Deep palma... OMIM:311900
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Glenoid fossa hypoplasia,... OMIM:619345
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Cough, Patent ductus... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Camptodactyly, Patent ductus arteriosus, Protein-losing enteropathy, Low-set ears,... OMIM:608104
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Bowing of the long bones, Wide nasal bridge, Posteriorly rotated ear... OMIM:224410
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Short nose, Feeding difficulties in infancy, Overfolded helix, Conduct... OMIM:610536
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long philtrum, Prominent antihelix, Thick lower lip vermilion, Macrotia, Hypoplasia... OMIM:614407
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Acro-Renal-Ocular Syndrome
Radial club hand, Broad hallux phalanx, Sandal gap, Sensorineural hearing impairment, Short thumb... ORPHA:959
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Equinovarus deformity, Respiratory distress, Feeding difficulties,... ORPHA:1143
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate,... ORPHA:794
Mosaic Trisomy 9
Scoliosis, Elbow dislocation, Intestinal malrotation, Patent ductus arteriosus, Hemivertebrae, Hi... ORPHA:99776
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Focal Dermal Hypoplasia
Open bite, Scoliosis, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Er... ORPHA:2092
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contracture, P... OMIM:618658
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Narrow palate, Patent ductus arteriosus, Joint stiffness, Thin bony ... OMIM:608328
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, S... OMIM:616897
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sandal gap, Abnormal pelvi... OMIM:215140
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
De Barsy Syndrome
Wormian bones, Delayed closure of the anterior fontanelle, Congenital hip dislocation, Narrow mou... ORPHA:2962
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobu... OMIM:252100
Megalocornea-Mental Retardation Syndrome
Genu valgum, Long philtrum, Macrocephaly, Genu recurvatum, Pes planus, Dysphagia, Osteopenia, Wid... OMIM:249310
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Accessory oral frenulum, Hand polydactyly, Toe syndactyly, Campto... OMIM:258865
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Feeding difficulties, Hypoplasia of the corpus callosum, Mandibular prognat... OMIM:618006
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Arterial Tortuosity Syndrome
Scoliosis, Prematurely aged appearance, Craniosynostosis, Abnormal carotid artery morphology, Pul... ORPHA:3342
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... OMIM:256200
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Elbow dislocation, Condu... ORPHA:3236
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Respiratory insufficiency, Spina bifida occulta, Abnormality of the ribs, Short neck, ... ORPHA:2311
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis, Overlapping toe, Pes planus, Brachydactyly, Broad foot OMIM:617898
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Sleep apnea, Spinal cord compression, Sensorineural hearing imp... ORPHA:580
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Limb und... ORPHA:1423
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Abnormality of the pinna, Cleft palat... OMIM:246560
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with narrow diaphyses,... OMIM:608154
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Meg... OMIM:269300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Macroglossia, Abnormal thumb morphology, Macrotia, Camptodactyly, Long ... ORPHA:500095
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Microdontia, Ulnar bowing, M... ORPHA:1765
Stickler Syndrome, Type Ii
Joint hypermobility, Arthropathy, Pierre-Robin sequence, Sensorineural hearing impairment, Cleft ... OMIM:604841
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Postaxial hand polydactyly, Short neck, Death in infancy, Smooth phi... OMIM:235255
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Short nose, Feeding difficulties, Cerebral white matter atrophy, Respiratory distress,... OMIM:615042
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Scoliosis, Joint hypermobility, Finger joint hypermobility, Short nose, Feeding di... ORPHA:544503
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Thin vermilion border, Joint hypermobility, Broad thumb, Overfolded ... ORPHA:481152
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Feeding difficulties, Recurrent oti... ORPHA:96184
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Macrotia, High palate, Villous atrophy, Cerebral atrophy, Fle... OMIM:601110
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Patent ductus arter... ORPHA:457395
Jacobsen Syndrome
Scoliosis, Pes planus, Broad hallux phalanx, Death in infancy, Intestinal malrotation, Toe clinod... ORPHA:2308
Orofaciodigital Syndrome Type 4
Split hand, Aplasia/Hypoplasia of the tibia, Oral cleft, Rectovaginal fistula, Cerebral cortical ... ORPHA:2753
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Nasogastric tube feeding i... ORPHA:2909
Atelosteogenesis Type Iii
Laryngotracheomalacia, Elbow dislocation, Respiratory insufficiency, Club-shaped distal femur, Ab... ORPHA:56305
Pfeiffer Syndrome Type 2
Broad thumb, Broad hallux phalanx, Atresia of the external auditory canal, Intestinal malrotation... ORPHA:93259
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300009
Cerebrocostomandibular Syndrome
Scoliosis, Congenital hip dislocation, Patent ductus arteriosus, High palate, Elbow flexion contr... OMIM:117650
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Tooth ag... ORPHA:1248
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Abnormality of the metacarpal bones, Joint stiffne... ORPHA:2496
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ear... ORPHA:1786
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Ankle flexion contracture, Smooth ph... OMIM:608799
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Micrognathia, Pes planus, A... ORPHA:1777
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Respiratory distress, Feeding difficulties, Macrotia, Wide... ORPHA:261304
Trisomy 8Q
Deep palmar crease, Camptodactyly of finger, Short neck, Myelomeningocele, Low-set, posteriorly r... ORPHA:1752
Gaucher Disease Type 2
Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Mullegama-Klein-Martinez Syndrome
Scoliosis, Long philtrum, Short philtrum, Polydactyly, Micrognathia, Coarctation of aorta, Pes pl... OMIM:301022
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Joint hypermobility, Narrow mouth, Dental crowding, Overfolded helix, Pes planus, Patent ductus a... OMIM:300990
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Protu... OMIM:613330
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrotia, Mandibular prognathia, High palate, Diastema, Large hands, Smooth philtrum, Short dista... OMIM:300534
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislocation, High pal... OMIM:114300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Abnormal respiratory system physiolo... ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Short nose, Overlapping toe, Microcephaly, Thick vermilion borde... OMIM:616723
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, Microcephaly,... OMIM:617412
Chromosome 22Q11.2 Duplication Syndrome
Abnormality of the pinna, Low-set ears, High palate, Micrognathia, Microcephaly, Velopharyngeal i... OMIM:608363
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Prematurely aged appearance, Mandibular prognathia,... ORPHA:2658
Schilbach-Rott Syndrome
Narrow mouth, Long nose, 3-4 finger cutaneous syndactyly, Posteriorly rotated ears, Clinodactyly,... OMIM:164220
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Postaxial polydactyly, Aplasia/Hypoplasia involving bones of the thorax, Dilate... ORPHA:397715
Aarskog-Scott Syndrome
Scoliosis, Joint laxity, Pes planus, Cervical spine hypermobility, Broad philtrum, Short neck, Br... OMIM:305400
Shprintzen-Goldberg Syndrome
Scoliosis, Craniosynostosis, Elbow dislocation, Pes planus, Joint stiffness, Abnormality of the m... ORPHA:2462
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Bilateral single transverse palmar creases, Abnormality of the metacarpal bones... ORPHA:2636
Vitamin K Antagonist Embryofetopathy
Macroglossia, Epiphyseal stippling, Short neck, Short nose, Punctate vertebral calcifications, Re... ORPHA:1914
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Triploidy
Macroglossia, Short neck, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Finger syndact... ORPHA:3376
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Malnutrition, Abdominal pain, Constipation, Abnormal cerebral white... OMIM:613662
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Abnormal respiratory system physiology, Laryngotracheomalacia, Increased head circumfe... ORPHA:94068
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth, Microcephaly OMIM:218650
Xq21 Microdeletion Syndrome
Anterior hypopituitarism, Stapes ankylosis, Conductive hearing impairment, Pituitary hypothyroidi... ORPHA:1435
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Chromosome 18Q Deletion Syndrome
Scoliosis, Joint laxity, Downturned corners of mouth, Pes planus, Mandibular prognathia, Atresia ... OMIM:601808
Amish Lethal Microcephaly
Osteoporosis, Spina bifida, Feeding difficulties, Cerebellar vermis hypoplasia, Death in infancy,... ORPHA:99742
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Narrow mouth, Respiratory insufficiency, Hypoplastic ischia, Bowing of the l... ORPHA:1865
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Conductive hearing impairment, Mandibular pr... OMIM:608572
Fibrochondrogenesis 2
Platyspondyly, Short nose, Protuberant abdomen, Hypoplastic ilia, Metaphyseal cupping, Hypoplasti... OMIM:614524
Pitt-Hopkins Syndrome
Scoliosis, Sleep apnea, Short metatarsal, Pes planus, Abnormality of the helix, Broad fingertip, ... ORPHA:2896
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Attached earlobe, Sensorineural hearing impairment, Thin lower lip vermilion, Short di... OMIM:619194
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Broad thumb, Joint laxity, Open mouth, Dental crowding, Abnormally folded helix, ... OMIM:309520
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Short neck, Dental crowding, Mandibular... OMIM:101120
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Scoliosis, Polydactyly, Mandibular prognathia, Hemivertebra... OMIM:109400
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Aplasia/Hypoplasia of the inner ear, Bilateral sensor... ORPHA:2306
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Rare Circulatory System Disease
Decreased finger mobility, Limited wrist movement, Thoracic kyphosis, Abnormality of the elbow, C... ORPHA:98028
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Short 5th metacarpal, Aplasia/Hypoplasia of ... ORPHA:1350
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Patent ductus arterios... OMIM:146510
Distal 17P13.1 Microdeletion Syndrome
Generalized joint laxity, Limitation of knee mobility, Abnormal hand morphology, Unilateral polym... ORPHA:319171
Ulbright-Hodes Syndrome
Thin vermilion border, Narrow mouth, Bilateral external ear deformity, Phocomelia, Abnormality of... ORPHA:3404
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emp... ORPHA:60033
Apert Syndrome
Broad thumb, Narrow palate, Mandibular prognathia, Respiratory insufficiency, Sensorineural heari... ORPHA:87
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Micrognathia, Aplasia/Hypoplasia o... ORPHA:1147
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
22Q11.2 Deletion Syndrome
Scoliosis, Small earlobe,