Gene: Prrx1 MGI:97712

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:

A230024N07Rik, MHox1, K-2, mHox, Pmx1, Prx1

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 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.

Human diseases associated with Prrx1 (2 diseases)
Human diseases predicted to be associated with Prrx1 (1687 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Agnathia-Otocephaly Complex		Low-set ears, Tracheomalacia, Conductive hearing impairment, Aglossia, Holoprosencephaly, Cleft p...	OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome		Low-set, posteriorly rotated ears, Holoprosencephaly, Mandibular aplasia, Narrow mouth, Respirato...	ORPHA:990

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

Disease	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
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Multiple Epiphyseal Dysplasia Type 4	Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars...	ORPHA:93307
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, Stapes ankylosis, Cleft palate, Thin vermilion border, Enamel agenesis, Micr...	OMIM:614701
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Atelosteogenesis, Type I	Clubbing, Short metatarsal, Rhizomelia, Cleft palate, Multinucleated giant chondrocytes in epiphy...	OMIM:108720
Fibrochondrogenesis 1	Posterior vertebral hypoplasia, Thin ribs, Rhizomelia, Broad long bones, Cleft palate, Narrow mou...	OMIM:228520
Kniest Dysplasia	Lumbar kyphoscoliosis, Hip dislocation, Rhizomelia, Cleft palate, Enlarged joints, Hypoplastic pe...	OMIM:156550
Omodysplasia 2	Scoliosis, Cleft palate, Hypoplastic distal humeri, Short 1st metacarpal, Overfolded helix, Broad...	OMIM:164745
Acrofacial Dysostosis Syndrome Of Rodriguez	Single transverse palmar crease, Oligodactyly, Low-set ears, High palate, Overlapping toe, Poster...	OMIM:201170
Achondroplasia	Macrocephaly, Generalized joint laxity, Rhizomelia, Upper airway obstruction, Radial bowing, Bowi...	OMIM:100800
Microphthalmia With Limb Anomalies	Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr...	OMIM:206920
Otospondylomegaepiphyseal Dysplasia	Abnormal joint morphology, Abnormal long bone morphology, Bifid uvula, Osteoarthritis, Cleft pala...	ORPHA:1427
Seckel Syndrome 1	Scoliosis, Hip dislocation, Selective tooth agenesis, Cleft palate, Microcephaly, 11 pairs of rib...	OMIM:210600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy...	OMIM:608940
Atelosteogenesis, Type Iii	Elbow dislocation, Tombstone-shaped proximal phalanges, Scoliosis, Widened distal phalanges, Shor...	OMIM:108721
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Macrocephaly, Metaphyseal cupping, Rhizomelia, Thin ribs, Wafer-thin platyspondyly, Micromelia, M...	OMIM:151210
Campomelic Dysplasia	Macrocephaly, Shortening of all phalanges of the toes, Hip dislocation, Scoliosis, Thin ribs, Hea...	OMIM:114290
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee fl...	ORPHA:166016
Stuve-Wiedemann Syndrome 1	Scoliosis, Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal i...	OMIM:601559
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Macrocephaly, Generalized joint laxity, Agenesis of permanent teeth, Cleft palate, Broad thumb, N...	ORPHA:251028
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hip dislocation, Rhizomelia, Narrow mouth, Microcephaly, Simple ear, Conductive hearing impairmen...	OMIM:602471
Multiple Synostoses Syndrome 1	Stapes ankylosis, Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Progressive...	OMIM:186500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia, Neonatal death, Apnea	OMIM:615228
Marshall Syndrome	Bifid uvula, Small distal femoral epiphysis, Cleft palate, Radial bowing, Thick lower lip vermili...	OMIM:154780
Acromesomelic Dysplasia 4	Prominent deltoid tuberosities, Short metatarsal, Rhizomelia, Broad finger, Short toe, Metaphysea...	OMIM:619636
Robinow Syndrome, Autosomal Recessive 1	Macrocephaly, Short distal phalanx of finger, Scoliosis, Aplasia/Hypoplasia involving the metacar...	OMIM:268310
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Ovoi...	ORPHA:1856
Microphthalmia With Limb Anomalies	Venous insufficiency, Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Abnorm...	ORPHA:1106
Interstitial Pneumonitis, Desquamative, Familial	Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat...	OMIM:263000
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension, Scoliosis, Severe generalized osteoporosis, Wide anterior fontan...	OMIM:259420
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia, Respiratory failure	OMIM:619887
Vitamin D-Dependent Rickets, Type 2A	Rickets, Bulging of the costochondral junction, Hearing impairment, Sparse bone trabeculae, Metap...	OMIM:277440
Metaphyseal Dysplasia, Braun-Tinschert Type	Scoliosis, Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle fin...	ORPHA:85188
Osteopathia Striata With Cranial Sclerosis	Macrocephaly, Scoliosis, Bifid uvula, Cleft palate, Fibular aplasia, Overfolded helix, Cleft uppe...	OMIM:300373
Camptomelic Syndrome, Long-Limb Type	Micromelia	OMIM:211990
Saul-Wilson Syndrome	Short distal phalanx of finger, Short metatarsal, Hearing impairment, Madelung deformity, Cone-sh...	OMIM:618150
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Conductive hearing impairment, Abs...	OMIM:171480
Leri-Weill Dyschondrosteosis	Abnormality of the humerus, Scoliosis, Increased carrying angle, Short tibia, Dorsal subluxation ...	OMIM:127300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short distal phalanx of finger, Proximal femoral epiphysiolysis, Microcephaly, Radial bowing, Sho...	OMIM:210720
Camptodactyly Syndrome, Guadalajara Type 1	Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Toe synd...	ORPHA:1327
Acrodysostosis	Short metatarsal, Hearing impairment, Micromelia, Short toe, Epiphyseal stippling, Abnormal morph...	ORPHA:950
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Otopalatodigital Syndrome, Type Ii	Spondylolysis, Short thumb, Short metatarsal, Rocker bottom foot, Cleft palate, Toe syndactyly, B...	OMIM:304120
Ulnar Hemimelia	Scoliosis, Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality o...	ORPHA:93320
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Scoliosis, Abnormal cochlea morphology, Large earlobe, Short 1st ...	ORPHA:798
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ...	OMIM:616300
Campomelic Dysplasia	Macrocephaly, Scoliosis, Hip dislocation, Hearing impairment, Cleft palate, 11 pairs of ribs, Tib...	ORPHA:140
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Scoliosis, Protruding ear, Vertebral wedging, Biconvex vertebral ...	ORPHA:93315
Lethal Faciocardiomelic Dysplasia	Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Narrow mouth, Microretrogna...	ORPHA:1972
Mullegama-Klein-Martinez Syndrome	Scoliosis, Polydactyly, Bifid uvula, Cleft palate, Smooth philtrum, Microcephaly, Wide nasal brid...	OMIM:301022
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Conge...	OMIM:184460
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Protruding...	OMIM:268305
Orofaciodigital Syndrome Vi	Incomplete cleft of the upper lip, Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Fibul...	OMIM:277170
Cenani-Lenz Syndrome	Oligodactyly, Scoliosis, Hip dislocation, Short thumb, Protruding ear, Hearing impairment, Microm...	ORPHA:3258
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ...	OMIM:128980
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hip dislocation, Proximal placement of thumb, Short metatarsal, Undulate ribs, Preaxial foot poly...	OMIM:609945
Acrofacial Dysostosis, Rodríguez Type	Abnormal form of the vertebral bodies, Malar flattening, Arrhinencephaly, Aqueductal stenosis, Fi...	ORPHA:1788
3M Syndrome	Scoliosis, Protruding ear, Thin ribs, Rocker bottom foot, Micromelia, Hypoplastic pelvis, Horizon...	ORPHA:2616
Faciocardiomelic Dysplasia, Lethal	Single transverse palmar crease, Retrognathia, Short thumb, Hypoplasia of the radius, Radial devi...	OMIM:227270
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Kyphomelic Dysplasia	Undulate ribs, Cleft palate, Micromelia, Bowed humerus, Radial bowing, Cleft upper lip, Tibial bo...	OMIM:211350
Acro-Renal-Mandibular Syndrome	Scoliosis, Hip dislocation, Thin ribs, Hypoplasia of the radius, Rudimentary to absent tibiae, Lo...	ORPHA:958
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p...	ORPHA:93314
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Shox-Related Short Stature	Forearm undergrowth, High palate, Scoliosis, Short neck, Lower limb undergrowth, Madelung deformi...	ORPHA:314795
Kinsship Syndrome	Scoliosis, Hip dislocation, Polydactyly, Ankyloglossia, Widely spaced teeth, Smooth philtrum, Sup...	OMIM:619297
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Scoliosis, Short tibia, Abnormality of the costochondral junction, Undulate ribs, Narrow mouth, E...	ORPHA:96334
Van Bogaert-Hozay Syndrome	Tooth malposition, Abnormal pinna morphology, Osteolytic defects of the phalanges of the hand, Mi...	OMIM:277150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Flattened epiphysis, Rhizomel...	OMIM:143095
Glass Syndrome	Oligodontia, Cleft palate, Narrow mouth, Poor suck, Smooth philtrum, Microcephaly, Generalized os...	OMIM:612313
Eiken Syndrome	Abnormal fingertip morphology, Abnormal trabecular bone morphology, Short toe, Abnormal acetabulu...	ORPHA:79106
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d...	OMIM:265120
Langer Mesomelic Dysplasia	Lumbar hyperlordosis, Hypoplasia of the radius, Short tibia, Mesomelia, Micrognathia, Short femor...	OMIM:249700
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Malar flattening, Everted lower lip vermilion, Long philtrum, Hypoplasia of the uln...	ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Malar flattening, Everted lower lip vermilion, Downturned corners of mouth, Long ph...	OMIM:615162
Léri-Weill Dyschondrosteosis	Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi...	ORPHA:240
Phocomelia, Schinzel Type	Protruding ear, Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radiu...	ORPHA:2879
Surfactant Metabolism Dysfunction, Pulmonary, 3	Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu...	OMIM:610921
Thrombocytopenia-Absent Radius Syndrome	Scoliosis, Hip dislocation, Tetralogy of Fallot, Patellar dislocation, Cleft palate, Broad thumb,...	ORPHA:3320
Bronchopulmonary Dysplasia	Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, Tracheobronchomalacia, Pulmo...	ORPHA:70589
Congenital Disorder Of Glycosylation, Type Iy	Scoliosis, Feeding difficulties, Widely spaced teeth, Joint dislocation, Respiratory distress, Mi...	OMIM:300934
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia of the proximal phalanges of the hand, Protruding ear, Aplasia/Hypoplasia of the fibula, ...	ORPHA:2256
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Macrocephaly, Bowel incontinence, Rhizomelia, Hearing impairment, Respiratory failure, Hypoplasia...	OMIM:616482
Dyggve-Melchior-Clausen Disease	Scoliosis, Short metatarsal, Iliac crest serration, Microcephaly, Multicentric ossification of pr...	OMIM:223800
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Malar ...	ORPHA:246
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Dyspnea, Retrognathia, Short neck, Median cleft lip and palate, Posteriorly rotated...	ORPHA:1832
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Premature Aging Syndrome, Penttinen Type	Macrocephaly, Short distal phalanx of finger, Scoliosis, Osteolytic defects of the distal phalang...	OMIM:601812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Short tibia, Cleft palate, Horizontal ribs, Short neck, Wide anterior fontan...	OMIM:617925
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala...	OMIM:185800
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Low-set ears, Conductive hearing impairment, Feeding difficulties, Underdeveloped ...	ORPHA:79113
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Thin bony cortex, Protuberant abdomen, Bulgin...	OMIM:264700
Fibular Hemimelia	Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia...	ORPHA:93323
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Coxa valga, Mesomelia, Uln...	OMIM:164900
Microcephaly-Micromelia Syndrome	Craniosynostosis, Forearm undergrowth, Oligodactyly, Low-set ears, Absent radius, Short neck, Mis...	OMIM:251230
Van Den Ende-Gupta Syndrome	Protruding ear, Thin ribs, Cleft palate, Narrow mouth, Overfolded helix, Narrow foot, Joint contr...	OMIM:600920
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Feeding difficulties, Aspiration pneumonia, Aplasia/Hypoplasia of fingers, Micrognathia,...	ORPHA:141152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip dislocation, Pathologic fracture, Advanced ossification of carpal bones, Cleft palate, Delaye...	OMIM:271640
Spondyloperipheral Dysplasia	Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l...	OMIM:271700
Weismann-Netter Syndrome	Calvarial hyperostosis, Scoliosis, Lateral femoral bowing, Delayed eruption of permanent teeth, K...	OMIM:112350
Laryngotracheal Angioma	Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing	ORPHA:137935
Auriculocondylar Syndrome 2	Macrocephaly, Snoring, Overfolding of the superior helices, Hearing impairment, Cleft palate, Nar...	OMIM:614669
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormality of fibula morphology, Bowing of the long bones, Abnormality of the lower limb, Aquedu...	ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped verteb...	OMIM:602111
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonatal death	OMIM:245650
Acromesomelic Dysplasia 2A	Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Deat...	OMIM:200700
Geroderma Osteodysplasticum	Periodontitis, Microcephaly, Increased susceptibility to fractures, Kyphoscoliosis, Neonatal wrin...	OMIM:231070
Osteogenesis Imperfecta, Type X	Death in childhood, Scoliosis, Generalized joint laxity, Rhizomelia, Thin ribs, Micromelia, Thora...	OMIM:613848
Acrocapitofemoral Dysplasia	Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi...	OMIM:607778
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Malabsorption, Rhizomelia...	ORPHA:175
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Cleft palate, Aplasia/Hypoplas...	ORPHA:2839
Osteogenesis Imperfecta, Type Viii	Scoliosis, Thin ribs, Multiple prenatal fractures, Femoral retroversion, Decreased skull ossifica...	OMIM:610915
Acromesomelic Dysplasia 2C	Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ...	OMIM:201250
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hearing impairment, Constipation, Sleep apnea, Cupped ear, Microcephaly, Brachydactyly, Low-set, ...	ORPHA:444077
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Cleft pa...	ORPHA:949
Weismann-Netter Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc...	ORPHA:3344
Osebold-Remondini Syndrome	Type A brachydactyly, Abnormality of the vertebral column, Decreased finger mobility, Hypoplasia ...	OMIM:112910
Cousin Syndrome	Macrocephaly, Rhizomelia, Hearing impairment, Cleft palate, Fibular aplasia, Microglossia, Joint ...	OMIM:260660
Endocrine-Cerebroosteodysplasia	Micromelia, Aplasia/Hypoplasia of the cerebellum, Single transverse palmar crease, Brachydactyly,...	OMIM:612651
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi...	OMIM:309350
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Scoliosis, Oligodontia, Short thumb, Hearing impairment, Cleft palate, C...	ORPHA:90652
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Macrocephaly, Low-set ears, Scoliosis, High palate, Cerebral atrophy, Open mouth, Abnormality of ...	OMIM:615398
Femoral-Facial Syndrome	Scoliosis, Hip dysplasia, Preaxial foot polydactyly, Cleft palate, Coxa vara, Abnormal sacrum mor...	ORPHA:1988
Tibial Aplasia-Ectrodactyly Syndrome	Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Overfolded h...	ORPHA:3329
Smith-Magenis Syndrome	Scoliosis, Abnormality of the dentition, Hyperactivity, Malar flattening, Mandibular prognathia, ...	OMIM:182290
Spondylometaphyseal Dysplasia, Schmidt Type	Scoliosis, Hip dysplasia, Irregular acetabular roof, Poor suck, Kyphoscoliosis, Coxa vara, Abnorm...	ORPHA:93316
Eiken Syndrome	Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ...	OMIM:600002
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Limb undergrowth, Coronal cleft vertebrae, Malar flattening, Short tibia, Short 4th metacarpal, S...	OMIM:118651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del...	OMIM:600785
Asbestos Intoxication	Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator...	ORPHA:2302
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Baller-Gerold Syndrome	Oligodactyly, Bicoronal synostosis, Scoliosis, Bifid uvula, Aplasia of metacarpal bones, Aphalang...	OMIM:218600
Orofaciodigital Syndrome Iv	Short finger, Lobulated tongue, Low-set ears, Hand polydactyly, High palate, Cerebral atrophy, Po...	OMIM:258860
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Shortening of the talar neck, Spinal cord compression, Enamel hypomineralization, Osteoa...	OMIM:307800
Otoonychoperoneal Syndrome	Low-set ears, Abnormality of the ear, Aplasia/Hypoplasia of the fibula, Posteriorly rotated ears,...	OMIM:259780
Deafness-Ear Malformation-Facial Palsy Syndrome	Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a...	ORPHA:3232
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Missing...	OMIM:617866
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Short thumb, Tetralogy of Fallot, Patellar dislocation, Cleft palate, Carpal syn...	OMIM:274000
Perching Syndrome	Camptodactyly, Scoliosis, High palate, Feeding difficulties, Dysphagia, Respiratory distress, Cya...	OMIM:617055
Cranioectodermal Dysplasia 1	Broad distal phalanges of all fingers, Short distal phalanx of finger, Protruding ear, Flattened ...	OMIM:218330
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Joint dislocation, Bowed humerus, Metaphyseal irregularity, Shor...	OMIM:618019
Acrorenal-Mandibular Syndrome	Hip dislocation, Thin ribs, Toe syndactyly, Narrow palate, Hypoplasia of the radius, Kyphoscolios...	OMIM:200980
Ritscher-Schinzel Syndrome 3	Poorly ossified vertebrae, Wide anterior fontanel, Death in infancy, Relative macrocephaly, Ulnar...	OMIM:619135
W Syndrome	Camptodactyly, Pes planus, Agenesis of maxillary central incisor, Broad uvula, Pes cavus, Upper l...	ORPHA:2804
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Low-set ears, Congenital hip dislocation, Conductive hearing i...	OMIM:263750
Pulmonary Alveolar Proteinosis, Acquired	Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re...	OMIM:610910
Alagille Syndrome	Long nose, Short distal phalanx of finger, Protruding ear, Abnormal form of the vertebral bodies,...	ORPHA:52
Craniosynostosis And Dental Anomalies	Chronic otitis media, Prominent metopic ridge, Stapes ankylosis, Narrow palate, Supernumerary too...	OMIM:614188
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Low-set ears, Protuberant abdomen, Postaxia...	OMIM:617102
Immunodeficiency 95	Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa...	OMIM:619773
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Hip dysplasia, Paucity of anterior horn motor neurons, Respiratory insufficiency due t...	OMIM:611890
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Short humerus, Asymmetric radial dysplasia, Radial club hand, Conductive hearing impairment, Abno...	ORPHA:2878
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Slc35A2-Cdg	Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Tetralogy of Fallot, Short tib...	ORPHA:356961
Surfactant Metabolism Dysfunction, Pulmonary, 2	Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail...	OMIM:610913
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Low-set ears, Genu varum, Metaphyseal cupping, Malar flattening, ...	ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Pear-shaped vertebrae, M...	ORPHA:93356
Moebius Syndrome	Bifid uvula, Lower limb undergrowth, Aplasia/Hypoplasia involving the metacarpal bones, Hand clen...	OMIM:157900
Fountain Syndrome	Macrocephaly, Short distal phalanx of finger, Scoliosis, Large hands, Thick lower lip vermilion, ...	ORPHA:3219
Odontochondrodysplasia 1	Macrocephaly, Scoliosis, Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing,...	OMIM:184260
Osteogenesis Imperfecta, Type I	Finger joint hypermobility, Hip dysplasia, Bruising susceptibility, Aortic aneurysm, Wormian bone...	OMIM:166200
Hypocalcemic Vitamin D-Dependent Rickets	Rachitic rosary, Enlargement of the costochondral junction, Rickets, Thin bony cortex, Protuberan...	ORPHA:289157
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Distal Duplication 5Q	Craniosynostosis, Low-set ears, Short nose, Narrow mouth, Long philtrum, Thin vermilion border, M...	ORPHA:96097
Alg3-Cdg	Macroglossia, Metaphyseal chondrodysplasia, High palate, Subcortical cerebral atrophy, Feeding di...	ORPHA:79321
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon...	OMIM:276820
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy...	OMIM:267450
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft palate, Single transverse palmar crease, Cleft upper lip, Low-set,...	ORPHA:915
Lethal Kniest-Like Dysplasia	Macrocephaly, Low-set ears, Hypoplastic ilia, Protuberant abdomen, Short neck, Coronal cleft vert...	ORPHA:2347
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Butterfly vertebrae, Feeding difficulties, Progressive microcephaly, Abnormal pinn...	OMIM:607143
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force...	ORPHA:1303
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Short femur, Narrow mouth, Thin vermilion border, Supernumerary ribs, Hypoplasia of ...	OMIM:612447
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Retrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shor...	OMIM:249710
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu varum, Arteriovenous malformation, Abnormal hip bone morp...	ORPHA:1110
Ivic Syndrome	Scoliosis, Short thumb, Tetralogy of Fallot, Hearing impairment, Carpal synostosis, Short 1st met...	OMIM:147750
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid...	ORPHA:90646
Isolated Klippel-Feil Syndrome	Abnormal sacrum morphology, Scoliosis, Anal atresia, Short neck, Abnormality of the vertebral col...	ORPHA:2345
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Macrocephaly, Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, M...	OMIM:613330
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ...	OMIM:228930
Odontochondrodysplasia	Square pelvis bone, Scoliosis, Abnormal metaphysis morphology, Retrognathia, Short nose, Coxa val...	ORPHA:166272
Cryptogenic Organizing Pneumonia	Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo...	ORPHA:1302
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Single transverse palmar crease, High palate, Protruding ear, Tetralogy of Fallot, Micrognathia, ...	ORPHA:3304
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Cleft palate, Micromelia, Microcephaly, Aplasia/Hypoplasia of the cerebellum...	ORPHA:1908
Osteopathia Striata-Cranial Sclerosis Syndrome	Macrocephaly, Scoliosis, Bifid uvula, Facial hyperostosis, Cleft palate, Conductive hearing impai...	ORPHA:2780
Phaver Syndrome	Camptodactyly of finger, Short thumb, Hypoplastic aortic arch, Broad thumb, Overfolded helix, Tri...	ORPHA:2876
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anal atresia, Absent radius, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Micrognathi...	ORPHA:1352
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Thin bony cortex, Bulging epiphyses, Bulging ...	OMIM:600081
Acromesomelic Dysplasia, Grebe Type	Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Death ...	ORPHA:2098
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Short distal phalanx of finger, Scoliosis, Irregular acetabular roo...	OMIM:156500
Atelosteogenesis Type Ii	Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr...	ORPHA:56304
Acrocephalopolydactyly	Protuberant abdomen, Limb undergrowth, Short neck, Short nose, Genu recurvatum, Brachydactyly, Sh...	ORPHA:221054
Cenani-Lenz Syndactyly Syndrome	Scoliosis, Malar flattening, Syndactyly, Enamel hypoplasia, Micrognathia, Hemivertebrae, Prematur...	OMIM:212780
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Scoliosis, Cleft palate, Bifid tongue, Cleft upper lip, Cone-shaped epiphysis, Brachydactyly, Hor...	OMIM:613091
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Aspiration, Cough, Cyan...	ORPHA:2004
Congenital Insensitivity To Pain With Severe Intellectual Disability	Limb undergrowth, Rocker bottom foot, Recurrent fractures, Osteomyelitis, Micrognathia, Talipes e...	ORPHA:453510
Intestinal Dysmotility Syndrome	Low-set ears, High palate, Feeding difficulties, Broad philtrum, Abdominal distention, Pes valgus...	OMIM:620045
Acromesomelic Dysplasia 1	Thoracolumbar interpediculate narrowness, Short metatarsal, Acromesomelia, Broad finger, Short to...	OMIM:602875
Meckel Syndrome, Type 8	Encephalocele, Low-set ears, Polydactyly, Short neck, Short nose, Occipital encephalocele, Abdomi...	OMIM:613885
Fetal Akinesia Deformation Sequence 4	Low-set ears, Camptodactyly, Retrognathia, High palate, Short neck, Posteriorly rotated ears, Kyp...	OMIM:618393
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Rhyns Syndrome	Conductive hearing impairment, Osteoporosis, Osteopenia, Short femoral neck, Short long bone, Sen...	OMIM:602152
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension, Neonatal death	OMIM:619003
Trisomy 20P	Camptodactyly of finger, Scoliosis, Protruding ear, Thin vermilion border, Smooth philtrum, Preax...	ORPHA:261318
Aase-Smith Syndrome	Camptodactyly of finger, Scoliosis, Joint stiffness, Abnormal pinna morphology, Trismus, Abnormal...	ORPHA:916
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Coarctation of aorta, Short thumb, Proximal placement of thumb, A...	ORPHA:1120
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, R...	ORPHA:2634
Mesomelia-Synostoses Syndrome	Short metatarsal, Hearing impairment, Micromelia, Absent uvula, Narrow foot, Short phalanx of fin...	OMIM:600383
Tetrasomy 5P	Macrocephaly, Long fingers, Short hallux, Cerebellar hypoplasia, Cyanosis, Pulmonary arterial hyp...	ORPHA:3309
Orofaciodigital Syndrome Type 10	Oligodactyly, Metatarsal synostosis, Polysyndactyly of hallux, Short tibia, Short toe, Fibular ap...	ORPHA:2756
Short Rib-Polydactyly Syndrome	Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:1505
Combined Oxidative Phosphorylation Deficiency 8	Death in childhood, Pulmonary hypoplasia, Death in infancy, Neonatal death	OMIM:614096
Brachydactyly Type A1	Scoliosis, Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of...	ORPHA:93388
Frontonasal Dysplasia 1	Median cleft palate, Camptodactyly, Low-set ears, Conductive hearing impairment, Pericallosal lip...	OMIM:136760
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Malabsorption, Osteomalacia, Abnormal trabecular bone morphology, Pse...	ORPHA:289176
Diastrophic Dysplasia	Scoliosis, Flattened epiphysis, Irregular epiphyses, Hearing impairment, Patellar dislocation, Cl...	OMIM:222600
Orofaciodigital Syndrome Type 2	Y-shaped metacarpals, Protruding ear, Polysyndactyly of hallux, Short tibia, Preaxial foot polyda...	ORPHA:2751
Achondrogenesis Type 1A	Macrocephaly, Short neck, Umbilical hernia, Short nose, Abnormal enchondral ossification, Abdomin...	ORPHA:93299
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Scoliosis, Kyphosis, Wormian bones, Hearing impairment, Biconcave f...	OMIM:166220
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Tachypnea, Restrictive ventilato...	ORPHA:2257
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Abnormality of the costochondral junction, Atlantoaxial instabili...	ORPHA:79345
Chronic Pneumonitis Of Infancy	Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced...	ORPHA:91359
Rubinstein-Taybi Syndrome 1	Scoliosis, Short thumb, Polydactyly, Plantar crease between first and second toes, Hearing impair...	OMIM:180849
Neu-Laxova Syndrome 2	Low-set ears, Scoliosis, High palate, Protuberant abdomen, Short neck, Spina bifida, Finger synda...	OMIM:616038
Grant Syndrome	Down-sloping shoulders, Wormian bones, Micrognathia, Tibial bowing	OMIM:138930
Severe Acute Respiratory Syndrome	Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea...	ORPHA:140896
Infant Acute Respiratory Distress Syndrome	Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail...	ORPHA:70587
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Enlargement of the costochondral junction, Thin bony cortex, Bulging epiphyses, Bulging ...	OMIM:241530
Shprintzen-Goldberg Craniosynostosis Syndrome	Scoliosis, Thin ribs, Narrow palate, Supernumerary ribs, Microcephaly, Feeding difficulties in in...	OMIM:182212
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi...	OMIM:603546
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Camptodactyly, Coronal craniosynostosis, Flexion contracture, Abnormal pinna morphology, Malar fl...	OMIM:207410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Stroke, Repeated pneumothoraces, Scoliosis, Hip dysplasia...	ORPHA:536467
Diamond-Blackfan Anemia 11	Unilateral radial aplasia, Atresia of the external auditory canal, Forearm reduction defects, Rad...	OMIM:614900
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Czeizel-Losonci Syndrome	Single transverse palmar crease, Low-set, posteriorly rotated ears, 2-3 finger syndactyly, 3-4 fi...	ORPHA:2437
Oculofaciocardiodental Syndrome	Oligodontia, Scoliosis, Tooth malposition, Short thumb, Solitary median maxillary central incisor...	ORPHA:2712
Robinow Syndrome, Autosomal Dominant 2	Macrocephaly, Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Hearing impa...	OMIM:616331
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Hip dislocation, Limited pronation/supination of forearm, Syndac...	OMIM:605432
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc...	OMIM:619466
Presynaptic Congenital Myasthenic Syndromes	Distal lower limb muscle weakness, Pes cavus, Narrow jaw, Spinal rigidity, Poor suck, Cyanosis, N...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal lower limb muscle weakness, Pes cavus, Narrow jaw, Spinal rigidity, Poor suck, Cyanosis, N...	ORPHA:590
Carpenter Syndrome 1	Scoliosis, Agenesis of permanent teeth, Tetralogy of Fallot, Preaxial foot polydactyly, Aplasia/H...	OMIM:201000
Osteogenesis Imperfecta, Type Ii	Beaded ribs, Limb undergrowth, Respiratory insufficiency, Thin ribs, Broad long bones, Wormian bo...	OMIM:166210
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, 4-layered lissencephaly, Primary microcephaly, Feeding difficulties, Microlissencep...	ORPHA:89844
Greenberg Dysplasia	Macrocephaly, Absent or minimally ossified vertebral bodies, Metaphyseal cupping, Rhizomelia, Mul...	OMIM:215140
Pleural Mesothelioma	Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d...	ORPHA:50251
Orofaciodigital Syndrome Viii	High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip, Recurrent aspi...	OMIM:300484
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Multiple joint dislocation...	OMIM:618395
Hallermann-Streiff Syndrome	Scoliosis, Selective tooth agenesis, Thin ribs, Abnormality of the hand, Narrow mouth, Narrow pal...	OMIM:234100
Atelosteogenesis, Type Ii	Scoliosis, Short greater sciatic notch, Cleft palate, Micromelia, Lacunar halos around chondrocyt...	OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Retrognathia, Abnormal metaphysis mor...	ORPHA:2631
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Tracheomalacia, Conductive hearing impairment, Feeding difficultie...	ORPHA:1393
Pallister-Hall Syndrome	Oligodactyly, Macrocephaly, Hip dislocation, Bifid uvula, Mesoaxial polydactyly, Cleft palate, To...	ORPHA:672
Omodysplasia 1	Anterolateral radial head dislocation, Rhizomelia, Short tibia, Limited hip movement, Popliteal p...	OMIM:258315
Nager Syndrome	Low-set, posteriorly rotated ears, Abnormal palate morphology, Joint stiffness, Phocomelia, Respi...	ORPHA:245
Chromosome 17P13.1 Deletion Syndrome	Scoliosis, Hip dysplasia, Proximal placement of thumb, Microcephaly, Hallux valgus, Short neck, H...	OMIM:613776
Blount Disease	Abnormal tibial metaphysis morphology, Abnormality of the knee, Abnormality of the proximal tibia...	ORPHA:2768
Syndactyly Type 4	Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li...	ORPHA:93405
Heart And Brain Malformation Syndrome	Low-set ears, Camptodactyly of finger, Attached earlobe, Cerebral atrophy, Global brain atrophy, ...	OMIM:616920
Fanconi Anemia	Scoliosis, Hip dislocation, Aplasia/Hypoplasia of the uvula, Tetralogy of Fallot, Aplasia/Hypopla...	ORPHA:84
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, High palate, Progressive hearing impairment, Scoliosis, Malar flattenin...	OMIM:613849
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Abnormal sacrum morphology, Spinal dysraphism, Tetralogy of Fa...	ORPHA:1926
Recurrent Respiratory Papillomatosis	Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ...	ORPHA:60032
Postaxial Oligodactyly, Tetramelic	Postaxial oligodactyly, Single transverse palmar crease, Postaxial foot polydactyly, Absent fifth...	OMIM:176240
Van Maldergem Syndrome 1	Scoliosis, Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Hypoplasia...	OMIM:601390
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Joint stiffness, Protruding ear, Tetralogy of Fallot, Respiratory insufficiency, ...	ORPHA:1166
Meier-Gorlin Syndrome 1	Thin ribs, Hearing impairment, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Mic...	OMIM:224690
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity	Scoliosis, Hip dislocation, Hip dysplasia, Hearing impairment, Cleft palate, Increased susceptibi...	ORPHA:93359
Lujan-Fryns Syndrome	Macrocephaly, Camptodactyly of finger, Low-set ears, Scoliosis, High palate, Protruding ear, Abno...	ORPHA:776
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di...	ORPHA:264675
Lateral Meningocele Syndrome	Scoliosis, Cleft palate, Smooth philtrum, Conductive hearing impairment, Short neck, Aortic aneur...	OMIM:130720
Neu-Laxova Syndrome	Rickets, Scoliosis, Bifid uvula, Osteomalacia, Cleft palate, Micromelia, Microcephaly, Cerebellar...	ORPHA:2671
Auriculocondylar Syndrome	Macrocephaly, Snoring, Bifid uvula, Difficulty in tongue movements, Abnormality of the temporoman...	ORPHA:137888
Metaphyseal Dysplasia, Spahr Type	Metaphyseal chondrodysplasia, Short lower limbs, Metaphyseal sclerosis, Metaphyseal widening, Pro...	OMIM:250400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hip dislocation, Generalized joint laxity, Tetralogy of Fallot, Abnormality of the hand, Optic ne...	ORPHA:508498
Dyggve-Melchior-Clausen Disease	Respiratory insufficiency due to muscle weakness, Rhizomelia, Atlantoaxial instability, Hearing i...	ORPHA:239
Mosaic Trisomy 9	Biparietal narrowing, Camptodactyly of finger, Scoliosis, Hip dislocation, Rocker bottom foot, Cl...	ORPHA:99776
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles,...	ORPHA:3216
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Cleft palate, Microcephaly, Cerebellar hypoplasia, Brachydactyly, Sh...	OMIM:217980
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar...	ORPHA:363417
Diaphanospondylodysostosis	Cleft palate, Absent in utero ossification of vertebral bodies, Decreased skull ossification, Del...	OMIM:608022
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Low-set ears, Abnormal antitragus morphology, Aplasia/Hypoplasia of ...	ORPHA:2759
Diastrophic Dysplasia	Macrocephaly, Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joi...	ORPHA:628
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Prominent superficial veins...	ORPHA:75508
Focal Dermal Hypoplasia	Camptodactyly of finger, Scoliosis, Tooth agenesis, Abdominal pain, Hearing impairment, Toe synda...	ORPHA:2092
17Q24.2 Microdeletion Syndrome	Scoliosis, Tooth malposition, Feeding difficulties, Short neck, Abnormality of the wrist, Hemihyp...	ORPHA:529962
Spondyloepiphyseal Dysplasia Tarda	Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Cleft palate, Flattened fe...	ORPHA:93284
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Abnormality of the middle ear ossicles, Mixed hearing impairment,...	OMIM:609166
Osteogenesis Imperfecta, Type Xix	Scoliosis, Rhizomelia, Vertebral wedging, Multiple prenatal fractures, Osteopenia, Hearing impair...	OMIM:301014
Distal Limb Deficiencies-Micrognathia Syndrome	Oligodactyly, Split foot, Low-set, posteriorly rotated ears, Conductive hearing impairment, Macro...	ORPHA:1307
Trisomy 8P	Bifid uvula, Tetralogy of Fallot, Cleft palate, Constipation, Thin vermilion border, Microcephaly...	ORPHA:264450
Duane-Radial Ray Syndrome	Scoliosis, Short thumb, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia of the radi...	OMIM:607323
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Blomstrand Lethal Chondrodysplasia	Metaphyseal cupping, Rhizomelia, Malar flattening, Short nose, Abnormal epiphysis morphology, Apl...	ORPHA:50945
Pycnodysostosis	Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo...	ORPHA:763
Ulnar Hypoplasia	Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ...	OMIM:191440
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Single transverse palmar crease, Short 1st metacarpal, Short ster...	OMIM:269150
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter...	ORPHA:79126
Skraban-Deardorff Syndrome	Feeding difficulties, Right aortic arch, Pes cavus, Widely spaced teeth, Hyperplasia of the maxil...	OMIM:617616
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Macrocephaly, Camptodactyly of finger, High palate, Protruding ear, Tapered finger, Short palm, M...	ORPHA:85279
Deafness, X-Linked 2	Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu...	OMIM:304400
Stuve-Wiedemann Syndrome 2	Camptodactyly, Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Stillbirth,...	OMIM:619751
Ulna Hypoplasia-Intellectual Disability Syndrome	Ulnar deviation of finger, Joint stiffness, Mesomelia, Delayed cranial suture closure, Micromelia...	ORPHA:2249
Achondroplasia	Macrocephaly, Rhizomelia, Hypoxemia, Hearing impairment, Bowing of the legs, Brachydactyly, Abnor...	ORPHA:15
Distal Triplication 15Q	Syringomyelia, Craniosynostosis, Camptodactyly, Low-set ears, Scoliosis, Retrognathia, High palat...	ORPHA:314588
Tarp Syndrome	Prominent antihelix, Scoliosis, Tetralogy of Fallot, Rocker bottom foot, Hearing impairment, Clef...	ORPHA:2886
Martsolf Syndrome 1	Tooth malposition, Short toe, Thoracic scoliosis, Microcephaly, Feeding difficulties in infancy, ...	OMIM:212720
Short-Rib Thoracic Dysplasia 12	Macrocephaly, Median cleft lip and palate, Short toe, Lobulated tongue, Bowing of the legs, Brach...	OMIM:269860
Langer Mesomelic Dysplasia	High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphol...	ORPHA:2632
Mucopolysaccharidosis Type 2, Attenuated Form	Macrocephaly, Camptodactyly of finger, Hip dysplasia, Upper airway obstruction, Sleep apnea, Abno...	ORPHA:217093
Anophthalmia Plus Syndrome	Deviation of finger, Low-set, posteriorly rotated ears, Bilateral cleft lip and palate, Spina bif...	ORPHA:1104
Meckel Syndrome 14	Postaxial foot polydactyly, Low-set ears, Retrognathia, Protuberant abdomen, Postaxial polydactyl...	OMIM:619879
Familial Nasal Acilia	Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ...	ORPHA:922
Schneckenbecken Dysplasia	Macrocephaly, Advanced ossification of carpal bones, Cleft palate, Metaphyseal irregularity, Brac...	OMIM:269250
Generalized Arterial Calcification Of Infancy	Stroke, Abnormal calcification of the carpal bones, Stapes ankylosis, Calcification of the auricu...	ORPHA:51608
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Scoliosis, Hip dislocation, Bifid uvula, Flattened epiphysis, Atlantoaxial i...	OMIM:183900
Cleidocranial Dysplasia	Chronic otitis media, Macrocephaly, Scoliosis, Hearing impairment, Cleft palate, Sleep apnea, Sup...	ORPHA:1452
Cerebrocostomandibular Syndrome	Scoliosis, Cleft palate, Carious teeth, Microcephaly, 11 pairs of ribs, Anal stenosis, Conductive...	OMIM:117650
Coffin-Lowry Syndrome	Short distal phalanx of finger, Scoliosis, Protruding ear, Abnormal diaphysis morphology, Widely ...	ORPHA:192
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Malar flattening, Short 5th finger, Apl...	ORPHA:52056
Mietens Syndrome	Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Joint stiffnes...	ORPHA:2557
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Short neck, Short nose, Cleft palate, Micrognathia, Thin upper...	ORPHA:2015
Steinfeld Syndrome	Bifid uvula, Phocomelia, Abnormal pinna morphology, Abnormality of the vertebral column, Missing ...	OMIM:184705
Interstitial Lung Disease 2	Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i...	OMIM:178500
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Platyspondyly, Short middle phalanx of the 5th finger, Multiple small ve...	OMIM:156510
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Scoliosis, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Hearing im...	OMIM:618363
Pde4D Haploinsufficiency Syndrome	Short metatarsal, Hearing impairment, Short toe, Short phalanx of finger, Cone-shaped epiphysis, ...	ORPHA:439822
Mucopolysaccharidosis Type 2, Severe Form	Macrocephaly, Camptodactyly of finger, Hip dysplasia, Upper airway obstruction, Sleep apnea, Abno...	ORPHA:217085
Neurogenic Arthrogryposis Multiplex Congenita	Flexion contracture, Scoliosis, Hip dislocation, Feeding difficulties, Wrist flexion contracture,...	ORPHA:1143
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Club-shaped proximal femur, Scoliosis, Protuberant abdomen, Anterior rib cupping, Hyp...	OMIM:184250
Fryns Syndrome	Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Lo...	ORPHA:2059
De Barsy Syndrome	Progressive microcephaly, Talipes calcaneovalgus, Generalized joint laxity, Hypoplastic aortic ar...	ORPHA:2962
Stickler Syndrome Type 1	Short nose, Osteoarthritis, Abnormal epiphysis morphology, Cleft palate, Platyspondyly, Abnormali...	ORPHA:90653
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck	OMIM:613073
Van Maldergem Syndrome 2	Scoliosis, Hearing impairment, Cutaneous finger syndactyly, Wide cranial sutures, Hypoplasia of t...	OMIM:615546
Nail-Patella Syndrome	Scoliosis, Hypoplastic radial head, Iliac horns, Patellar dislocation, Cleft palate, Triceps apla...	OMIM:161200
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the inner e...	ORPHA:2549
20P12.3 Microdeletion Syndrome	Macrocephaly, Malar flattening, Broad thumb, Narrow mouth, Long philtrum, Wide nasal bridge, Broa...	ORPHA:261295
Lateral Meningocele Syndrome	Scoliosis, Prominent metopic ridge, Smooth philtrum, Conductive hearing impairment, Short neck, M...	ORPHA:2789
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Camptodactyly, Low-set ears, Abnormality of the dentition, Posteriorly rotated...	OMIM:618529
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Camptodactyly of finger, Low-set ears, Abnormality of the dentition, Abnormal p...	ORPHA:178303
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hip dislocation, Progressive microcephaly, Protruding ear, Hyperextensibility at wrists, Thoracic...	ORPHA:481152
Acrofacial Dysostosis 1, Nager Type	Scoliosis, Hip dislocation, Tetralogy of Fallot, Urticaria, Cleft palate, Toe syndactyly, Short t...	OMIM:154400
Tibial Hemimelia	Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle...	ORPHA:93322
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Conductive hearing impairment, Abnormal palate morphology, Hydrocepha...	ORPHA:93262
Kniest Dysplasia	Macrocephaly, Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Hearin...	ORPHA:485
Mental Retardation Syndrome, Mietens-Weber Type	Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Pes planus, Elbow ...	OMIM:249600
Osteoglophonic Dysplasia	Camptodactyly of finger, Short thumb, Short metatarsal, Rhizomelia, Broad thumb, Increased suscep...	OMIM:166250
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Scoliosis, High palate, Gastroesophageal reflux, Restrictive ventilatory...	OMIM:614399
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Cyan...	ORPHA:2414
Mucopolysaccharidosis Type 2	Macrocephaly, Hip dysplasia, Upper airway obstruction, Sleep apnea, Abnormal aortic morphology, O...	ORPHA:580
Tarp Syndrome	Prominent antihelix, Tetralogy of Fallot, Rocker bottom foot, Cleft palate, Cerebellar hypoplasia...	OMIM:311900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the humerus, Phocomelia, Tetralogy of Fallot, Missing ribs, Foot polydactyly, Apla...	ORPHA:3186
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co...	OMIM:234810
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Acro-Renal-Ocular Syndrome	Short thumb, Tetralogy of Fallot, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Tripha...	ORPHA:959
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	High palate, Scoliosis, Feeding difficulties, Diffuse white matter abnormalities, Restrictive ven...	OMIM:218000
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Madelung deformity, Limited pronation/supination of forearm, Radial bowing	DECIPHER:58
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Saethre-Chotzen Syndrome	Scoliosis, Hearing impairment, Cleft palate, Broad thumb, Narrow palate, Sleep apnea, Triphalange...	ORPHA:794
Distal Deletion 17Q	Deviation of finger, Low-set, posteriorly rotated ears, Prominent metopic ridge, Aplasia/Hypoplas...	ORPHA:1597
Cleidocranial Dysplasia 1	Spondylolysis, Scoliosis, Hip dislocation, Hearing impairment, Spondylolisthesis, Cleft palate, N...	OMIM:119600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Anisospondyly, Cleft palate, Micromelia, Narrow mouth, Microcephaly, Bowing of ...	ORPHA:1865
Orofaciodigital Syndrome Xix	Toe syndactyly, Narrow palate, Narrow mouth, Cupped ear, Carious teeth, Lobulated tongue, Cleft s...	OMIM:620107
Stickler Syndrome, Type I	Scoliosis, Bifid uvula, Osteoarthritis, Cleft palate, Spondylolisthesis, Conductive hearing impai...	OMIM:108300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Scoliosis, Cavum septum pellucidum, High palate, Feeding difficulties, Chronic cons...	OMIM:619383
Ulnar Hypoplasia With Mental Retardation	Limited elbow movement, Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus	OMIM:276821
Microphthalmia, Syndromic 12	Pulmonary hypoplasia, Neonatal death	OMIM:615524
Spondyloepimetaphyseal Dysplasia, Shohat Type	Scoliosis, Upper airway obstruction, Metaphyseal irregularity, Squared-off platyspondyly, Bowing ...	ORPHA:93352
Schneckenbecken Dysplasia	Macrocephaly, Hypoplastic ilia, Abnormal metaphysis morphology, Short neck, Malar flattening, Sho...	ORPHA:3144
Interstitial Lung Disease 1	Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Interlob...	OMIM:619611
Charge Syndrome	Scoliosis, Short thumb, Right aortic arch, Tetralogy of Fallot, Cleft palate, Cupped ear, Microce...	OMIM:214800
Weill-Marchesani Syndrome 2	Scoliosis, Tooth malposition, Short metatarsal, Narrow palate, Thin bony cortex, Brachydactyly, B...	OMIM:608328
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Microtia, third degree, Bifid uvula, Hearing impairment, Cleft palate, N...	ORPHA:2554
Achondrogenesis, Type Ia	Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Short nec...	OMIM:200600
Acromesomelic Dysplasia 2B	Deviation of finger, Absent toe, Short metatarsal, Rhizomelia, Short metacarpal, Patellar disloca...	OMIM:228900
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Camptodactyly, Short neck, Abdominal distention, Protein-losing enteropathy, Death ...	OMIM:608104
Jacobsen Syndrome	Macrocephaly, Scoliosis, Hip dislocation, Constipation, Toe syndactyly, Short toe, Smooth philtru...	ORPHA:2308
Schwartz-Jampel Syndrome, Type 1	Scoliosis, Anterior bowing of long bones, Micromelia, Shoulder flexion contracture, Narrow mouth,...	OMIM:255800
Mohr Syndrome	Partial duplication of the phalanges of the hallux, Scoliosis, Preaxial foot polydactyly, Cleft p...	OMIM:252100
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Thin bony cortex, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epi...	OMIM:300554
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, High palate, Scoliosis, Feeding difficulties, Secondary microcepha...	OMIM:615042
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Esophageal atresia, Conductive hearing impairment, Progressive microcephaly, Proxim...	OMIM:610536
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Finger joint hypermobility, Bifid uvula, Lumbar scoli...	OMIM:601492
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D...	ORPHA:79127
Gorham-Stout Disease	Abnormality of the internal auditory canal, Pathologic fracture, Mandibular pain, Abnormality of ...	ORPHA:73
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, High palate, Pulmonary lymphangiectasia, Short neck, Malar flattening, Thyroid lymp...	OMIM:235255
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Rhizomelia, Cleft palate, Narrow mouth, Thoracic scoliosis, Microcephal...	OMIM:611209
Chondrodysplasia With Joint Dislocations, Gpapp Type	Hip dysplasia, Irregular epiphyses of the metacarpals, Hearing impairment, Patellar dislocation, ...	OMIM:614078
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Scoliosis, Hip dislocation, Hip dysplasia, Bifid uvula, Pes cavus, Hearing impairment, Cleft pala...	OMIM:300968
22Q11.2 Deletion Syndrome	Chronic otitis media, Scoliosis, Bowel incontinence, Chronic pulmonary obstruction, Tetralogy of ...	ORPHA:567
Rothmund-Thomson Syndrome	Selective tooth agenesis, Short thumb, Abnormal trabecular bone morphology, Supernumerary tooth, ...	ORPHA:2909
Andersen Cardiodysrhythmic Periodic Paralysis	Oligodontia, Scoliosis, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, Microcephal...	OMIM:170390
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender long bones with narrow diaphyses, Metaphyseal striations, Osteopenia, Short femoral neck,...	OMIM:608154
Otopalatodigital Syndrome, Type I	Short distal phalanx of finger, Scoliosis, Hip dislocation, Selective tooth agenesis, Abnormality...	OMIM:311300
Blount Disease, Adolescent	Osteochondritis dissecans, Bowing of the legs, Genu varum	OMIM:259200
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Scoliosis, Abnormal calcification of the carpal bones, Broad long bones, Atlantoaxial instability...	OMIM:271665
Ulbright-Hodes Syndrome	Thin ribs, Narrow mouth, Fibular aplasia, Thin vermilion border, Respiratory failure, Pneumothora...	ORPHA:3404
Split-Hand/Foot Malformation 3	Camptodactyly, High palate, Abnormal pinna morphology, Cleft palate, Narrow mouth, Microretrognat...	OMIM:246560
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, High palate, Abnormality of the dentition, Short tibia, Accessor...	OMIM:258865
Aarskog-Scott Syndrome	Scoliosis, Cleft palate, Short 5th finger, Large earlobe, Single transverse palmar crease, Cleft ...	OMIM:305400
Achondrogenesis, Type Ib	Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Malar flattening, Short ribs, Um...	OMIM:600972
Dubowitz Syndrome	Scoliosis, Protruding ear, Malabsorption, Hearing impairment, Toe syndactyly, Broad thumb, Microc...	ORPHA:235
Arterial Tortuosity Syndrome	Macrocephaly, Scoliosis, Hip dislocation, Hip dysplasia, Median cleft lip and palate, Rocker bott...	ORPHA:3342
Viss Syndrome	Scoliosis, Hip dislocation, Hip dysplasia, Bifid uvula, Left aortic arch with retroesophageal rig...	OMIM:619472
Trisomy 18	Camptodactyly of finger, Abnormality of the upper limb, Cleft palate, Narrow mouth, Narrow palate...	ORPHA:3380
Smith-Lemli-Opitz Syndrome	Hypoplasia of the frontal lobes, Hip dislocation, Short thumb, Proximal placement of thumb, Talip...	OMIM:270400
Craniometadiaphyseal Dysplasia	Macrocephaly, Scoliosis, Broad long bones, Carious teeth, Absent paranasal sinuses, Malar flatten...	OMIM:269300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Microceph...	ORPHA:457395
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Weyers Ulnar Ray/Oligodactyly Syndrome	High palate, Proximal radial head dislocation, Proximal placement of thumb, Solitary median maxil...	OMIM:602418
Desmosterolosis	Macrocephaly, Bifid uvula, Cleft palate, Micromelia, Narrow mouth, Microcephaly, Large earlobe, L...	ORPHA:35107
Vacterl With Hydrocephalus	Esophageal atresia, Anal atresia, Hip dislocation, Microtia, third degree, Retrognathia, Arrhinen...	ORPHA:3412
Opsismodysplasia	Macrocephaly, Scoliosis, Metaphyseal cupping, Rhizomelia, Posterior rib cupping, Short phalanx of...	OMIM:258480
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Abnormal palate morphology, Abnormal hip bone morphology, Atresia ...	ORPHA:3236
Waardenburg Syndrome Type 1	Scoliosis, Spina bifida, Meningocele, Premature graying of hair, Short nose, Mandibular prognathi...	ORPHA:894
Dysostosis Multiplex, Ain-Naz Type	Scoliosis, Hip dislocation, Thin corpus callosum, Flat acetabular roof, Abdominal distention, Hem...	OMIM:619345
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Generalized osteosclerosis, Malar flattening, Short ribs, Adv...	OMIM:215045
Loeys-Dietz Syndrome 5	Bifid uvula, Osteoarthritis, Cleft palate, Spondylolisthesis, Smooth philtrum, Congenital finger ...	OMIM:615582
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Bilateral lung agenesis, Neonatal death	OMIM:601612
Basal Cell Nevus Syndrome 1	Macrocephaly, Scoliosis, Polydactyly, Odontogenic keratocysts of the jaw, Vertebral wedging, Clef...	OMIM:109400
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Short lower limbs, Hip dislocation, Hallux valgus, Prominent c...	ORPHA:261311
Genitopalatocardiac Syndrome	Low-set ears, Right aortic arch, Cleft palate, Double outlet right ventricle, Micrognathia, Cleft...	OMIM:231060
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Macrocephaly, Scoliosis, Hip dislocation, Respiratory insufficiency due to muscle weakness, Respi...	OMIM:618291
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Hearing impairment, Spinal rigidity, Cleft palate, Small epiphyses, Cervical instabili...	ORPHA:94068
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent otitis media, Polydactyly, Hearing impairment	OMIM:615993
Roberts-Sc Phocomelia Syndrome	Hyperplasia of the maxilla, Cleft palate, Microcephaly, Talipes equinovalgus, Cleft upper lip, Br...	OMIM:268300
Cleft Velum	Nasal regurgitation, Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media,...	ORPHA:99772
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg...	ORPHA:2972
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Cle...	ORPHA:3104
8Q24.3 Microdeletion Syndrome	Hip dysplasia, Hypoplastic aortic arch, Abnormality of the hand, Rocker bottom foot, Optic nerve ...	ORPHA:508488
Boomerang Dysplasia	Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poorly ossified vertebrae, Finger s...	ORPHA:1263
Qazi-Markouizos Syndrome	Open mouth, Chronic constipation, Hypoplasia of teeth, Delayed ossification of carpal bones, Broa...	ORPHA:3010
Tibial Torsion, Bilateral Medial	Scoliosis, Bowing of the legs, Tibial torsion	OMIM:188800
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Scoliosis, Protruding ear, Microcephaly, Conductive hearing impairment, ...	ORPHA:2462
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ...	OMIM:166740
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Otosclerosis, Broad foot, Tarsal synostosis, Brachydactyly	OMIM:617898
Congenital Disorder Of Glycosylation, Type Ie	Camptodactyly, Secondary microcephaly, Knee flexion contracture, Micrognathia, High, narrow palat...	OMIM:608799
Neu-Laxova Syndrome 1	Calcaneovalgus deformity, Rocker bottom foot, Cleft palate, Long fingers, Toe syndactyly, Microme...	OMIM:256520
Fibrochondrogenesis 2	Protuberant abdomen, Hypoplastic ilia, Metaphyseal cupping, Metaphyseal widening, Short ribs, Mal...	OMIM:614524
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Macrocephaly, Camptodactyly, Abnormal femoral torsion, Long foot, Protruding ear, V...	ORPHA:500095
Spondyloepimetaphyseal Dysplasia, Shohat Type	Scoliosis, Micromelia, Metaphyseal irregularity, Thin vermilion border, Coxa vara, Central verteb...	OMIM:602557
Lethal Recessive Chondrodysplasia	Macroglossia, Generalized osteosclerosis, Limb undergrowth, Flared elbow metaphyses, Micromelia, ...	ORPHA:1423
Sialuria	Macroglossia, Macrocephaly, Low-set ears, Scoliosis, High palate, Protuberant abdomen, Attention ...	OMIM:269921
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Short palm	ORPHA:168555
Atelosteogenesis Type Iii	Abnormality of the humerus, Hip dislocation, Short tibia, Patellar dislocation, Knee dislocation,...	ORPHA:56305
Meier-Gorlin Syndrome 5	Patellar aplasia, Low-set ears, Prominent metopic ridge, Thick vermilion border, Feeding difficul...	OMIM:613805
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Scoliosis, Finger joint hypermobility, Hip dysplasia, Feeding difficulties, Restlessness, Hyperex...	ORPHA:544503
Bartsocas-Papas Syndrome 1	Oligodactyly, Short thumb, Cleft palate, Cupped ear, Popliteal pterygium, Cleft upper lip, Short ...	OMIM:263650
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Low-set ears, Retrognathia, Right aortic arch, Cerebral hemorrhage, Premature graying of hair, Ab...	OMIM:300845
Multiple Osteochondromas	Femoroacetabular impingement, Cervical myelopathy, Rib exostoses, Deformed forearm bones, Pneumot...	ORPHA:321
Dent Disease 1	Rickets, Thin bony cortex, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Enla...	OMIM:300009
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Cervical instability, Abnormal respiratory system physiology, Spinal cord compression, Laryngotra...	ORPHA:93346
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Scoliosis, Bifid uvula, Narrow mouth, Cupped ear, Spina bifida, Patent ductus arteriosus, Wide na...	OMIM:619480
Pulmonary Capillary Hemangiomatosis	Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl...	ORPHA:199241
Holt-Oram Syndrome	Aplasia of the ulna, Short humerus, Limited elbow extension, Aplasia of the pectoralis major musc...	OMIM:142900
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Maxillonasal Dysplasia	Short distal phalanx of finger, Scoliosis, Tooth agenesis, Short nose, Mandibular prognathia, Mic...	ORPHA:1248
Gaucher Disease Type 2	Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture	OMIM:607278
Chromosome 22Q11.2 Duplication Syndrome	Low-set ears, High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Microcephaly,...	OMIM:608363
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Low-set ears, Pyloric stenosis, Abdominal distention, Smoot...	OMIM:300048
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis	ORPHA:2901
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, High palate, Scoliosis, Ulnar deviation of finger, Joint stiffness,...	ORPHA:1147
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Horizontal ribs, Hand polydactyly, Jaundice, Early ossification of capital femoral epiphyses, Res...	OMIM:208500
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Hydrocephalus, Microcephaly, Wide nasal bridge, Pes planus, Periventricular leuko...	OMIM:618302
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Feeding difficulties, Micrognathia, Respiratory distress, Thin vermilion border, Microcephaly, Ma...	ORPHA:261304
Upper Limb Mesomelic Dysplasia	Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing	ORPHA:2497
Distal Deletion 15Q	Short distal phalanx of finger, Hip dislocation, Generalized joint laxity, Hearing impairment, Cl...	ORPHA:1596
Pfeiffer Syndrome Type 2	Cleft palate, Toe syndactyly, Broad thumb, Short hallux, Hydrocephalus, Malar flattening, Short n...	ORPHA:93259
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Multiple prenatal fractures, Cleft palate, Microcephaly, Cerebellar hypopla...	OMIM:616897
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Distal Xq28 Microduplication Syndrome	High palate, Open mouth, Short lingual frenulum, Attention deficit hyperactivity disorder, Asthma...	ORPHA:293939
Endove Syndrome, Limb-Only Type	3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate shortening of the tib...	OMIM:619217
Acalvaria	Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Talipes, Postaxial hand polydactyly...	ORPHA:945
Mucolipidosis Ii Alpha/Beta	Death in childhood, Hip dislocation, Hip dysplasia, Pathologic fracture, Lumbar scoliosis, Flared...	OMIM:252500
Keipert Syndrome	Macrocephaly, Short distal phalanx of finger, Broad distal phalanx of finger, Tented upper lip ve...	ORPHA:2662
Congenital Tracheomalacia	Intercostal retractions, Productive cough, Pneumothorax, Cyanosis, Pulmonary arterial hypertensio...	ORPHA:95430
Iniencephaly	Rhizomelia, Rocker bottom foot, Narrow mouth, Lissencephaly, Absent vertebra, Hydrocephalus, Spin...	ORPHA:63259
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Osteolytic defects of the distal p...	ORPHA:50815
Metaphyseal Chondrodysplasia, Schmid Type	Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr...	ORPHA:174
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Abnormal joint morphology, Microtia, third degree, Subcortical cerebral ...	ORPHA:2753
Cohen Syndrome	Scoliosis, Tooth agenesis, Narrow palm, Slender toe, Microcephaly, Feeding difficulties in infanc...	ORPHA:193
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Abnormally folded helix, Low-set ears, Macrocephaly, Long nose, High palate, Open mouth, Hyperact...	OMIM:309520
22Q11.2 Duplication Syndrome	Scoliosis, Tetralogy of Fallot, Attention deficit hyperactivity disorder, Interrupted aortic arch...	ORPHA:1727
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,...	ORPHA:2141
Hurler Syndrome	Calvarial hyperostosis, Macrocephaly, Hearing impairment, Flared iliac wing, Diaphyseal thickenin...	OMIM:607014
Bent Bone Dysplasia Syndrome 2	Short tibia, Thin ribs, Bowed humerus, Short 1st metacarpal, Short sternum, Short lower limbs, Sh...	OMIM:620076
Mucopolysaccharidosis Type 3	Chronic otitis media, Macrocephaly, Scoliosis, Hip dysplasia, Malabsorption, Hearing impairment, ...	ORPHA:581
Coffin-Siris Syndrome 11	Uplifted earlobe, Esophageal atresia, Prominent metopic ridge, High palate, Bifid uvula, Downturn...	OMIM:618779
Dyschondrosteosis-Nephritis Syndrome	Microdontia, Ulnar bowing, Micromelia, Madelung deformity, Radial bowing, Aplasia/Hypoplasia of t...	ORPHA:1765
Rare Circulatory System Disease	Vascular calcification, Decreased finger mobility, Arterial tortuosity, Pelvic bone exostoses, Sp...	ORPHA:98028
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Autoimmune Pulmonary Alveolar Proteinosis

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