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

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
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
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... ORPHA:93307
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Cutis marmorata, Radioulnar synostosis, Vertebral cle... OMIM:614701
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Omodysplasia 2
Limited elbow flexion, Recurrent otitis media, Micrognathia, Dislocated radial head, Hypoplastic ... OMIM:164745
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neo... OMIM:108720
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... OMIM:228520
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Acrofacial Dysostosis Syndrome Of Rodriguez
Low-set ears, Absent forearm, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlap... OMIM:201170
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Achondroplasia
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Mega... OMIM:100800
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Interrupted inferi... OMIM:206920
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... OMIM:108721
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... OMIM:151210
Seckel Syndrome 1
Ivory epiphyses, Low-set ears, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial ... OMIM:210600
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Acrodysostosis
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... ORPHA:950
Marshall Syndrome
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... OMIM:154780
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ... ORPHA:251028
Acromesomelic Dysplasia 4
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Chronic constipation, B... OMIM:619636
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ... OMIM:186500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref... OMIM:601559
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Scapulo... OMIM:602471
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Short toe, Downturned corners o... ORPHA:1327
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Rickets, Bulg... OMIM:277440
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai... OMIM:618150
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... OMIM:300373
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Hearing impairme... OMIM:259420
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... OMIM:210720
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi... ORPHA:798
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp... OMIM:184460
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Sensorineural hearing impairm... OMIM:301022
Glass Syndrome
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High pa... OMIM:612313
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... OMIM:304120
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... OMIM:277170
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus arteri... OMIM:616300
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impa... ORPHA:3258
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microglossia, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... OMIM:609945
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... OMIM:268305
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna... OMIM:227270
Campomelic Dysplasia
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh... ORPHA:140
Kinsship Syndrome
Low-set ears, Ankyloglossia, Micrognathia, Chronic constipation, Short neck, Pes planus, Dandy-Wa... OMIM:619297
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Kyphomelic Dysplasia
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... OMIM:211350
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ... OMIM:277150
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Feeding difficulties,... OMIM:300934
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Mesomelia, Platyspondyly, Rhizomelia, Wide anterior fontanel, Gastroesophageal reflux, Hearing im... OMIM:616482
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermili... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flatt... OMIM:615162
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... ORPHA:246
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia... ORPHA:2256
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexio... OMIM:601812
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hearing impairment, Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, I... OMIM:143095
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi... OMIM:185800
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Sensorineural hearing impairment, Short neck, Flat a... OMIM:271700
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Respiratory distress, Gingival overgr... ORPHA:1832
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femo... OMIM:608940
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, A... OMIM:617925
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, O... OMIM:251230
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... OMIM:112350
Geroderma Osteodysplasticum
Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ... OMIM:231070
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Cerebral calcification, Micrognathia, Tibial bowing, Abnor... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... ORPHA:2839
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo... ORPHA:141152
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Genu valgum, Cleft soft palate, Micrognathia, Metaphyseal dysplasia, A... ORPHA:93316
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... OMIM:610915
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Auriculocondylar Syndrome 2A
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Stenosis of the external auditory c... OMIM:614669
Endocrine-Cerebroosteodysplasia
Low-set ears, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Fibular bowing, Micro... OMIM:612651
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... OMIM:260660
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ... OMIM:600785
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... OMIM:309350
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Abnormality of the dentition, Lambdoidal craniosynostosis, Osteopenia, Downturned c... OMIM:615398
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Wide nasal bri... OMIM:617102
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, S... OMIM:307800
Otoonychoperoneal Syndrome
Low-set ears, Ankle flexion contracture, Hip contracture, Knee flexion contracture, Posteriorly r... OMIM:259780
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Coronal craniosynos... OMIM:614188
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly, High palate, Scolios... OMIM:617055
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microgn... ORPHA:1988
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Clinodactyly, Short tibia, Cerebral atrophy, Short finger, Hamartom... OMIM:258860
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Vertebral... OMIM:617866
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling,... OMIM:619135
Fountain Syndrome
Craniofacial hyperostosis, Erythema, Cutis marmorata, Sensorineural hearing impairment, Abnormal ... ORPHA:3219
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Micrognathia... ORPHA:444077
Slc35A2-Cdg
Short tibia, Feeding difficulties, Hypoplasia of the corpus callosum, Sensorineural hearing impai... ORPHA:356961
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Pyloric stenosis, Conical tooth, Cupped ear, Short thum... OMIM:263750
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... ORPHA:2804
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Low-set... ORPHA:85166
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Long philtrum, R... ORPHA:2878
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb... ORPHA:52
Cranioectodermal Dysplasia 1
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Ectodermal dysplasi... OMIM:218330
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Short ne... OMIM:157900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Clubbing of toes, Recurrent otitis media, Tetralogy of Fallot, Micrognathia, C... ORPHA:3304
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Baller-Gerold Syndrome
Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Erythema, Carpal synost... OMIM:218600
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Hearing impairment, Bruising susceptibility,... OMIM:166200
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Insensitivity To Pain With Severe Intellectual Disability
Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Self-mutilation, Congenital bil... ORPHA:453510
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Alg3-Cdg
Macroglossia, Osteopenia, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Hearing imp... ORPHA:79321
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat... ORPHA:1388
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Low-set ears, Flared metaphysis, Broad long bones, Abnormal cart... ORPHA:2347
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Long hallux, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver... ORPHA:915
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Long philtrum, Short nose, Micrognathia, Narrow mouth,... ORPHA:96097
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, ... ORPHA:166272
Acrocephalopolydactyly
Genu recurvatum, Short neck, Limb undergrowth, Brachydactyly, Short long bone, Protuberant abdome... ORPHA:221054
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... OMIM:276820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, Sensorineural hearing im... ORPHA:289176
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Hand clenching, Abnormal anterior horn cell morphology, Retrognathia, Cerebral atro... OMIM:611890
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Delayed cranial suture closure, Cerebral calcification, Micrognathia, High, narrow ... ORPHA:2780
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Poor suck, Respiratory distress, Butterfly vertebrae, Short ... OMIM:607143
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valg... ORPHA:56304
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Cervical C... ORPHA:2345
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Microce... ORPHA:1352
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Radioulnar synostosis, Hypoplastic... ORPHA:2876
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Encephalocele, Talipe... ORPHA:1908
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... OMIM:212780
Ivic Syndrome
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... OMIM:147750
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Fetal Akinesia Deformation Sequence 4
Low-set ears, Wide nasal bridge, Arthrogryposis multiplex congenita, Retrognathia, 11 pairs of ri... OMIM:618393
Meckel Syndrome, Type 8
Low-set ears, Occipital encephalocele, Abdominal distention, Cleft upper lip, Encephalocele, Poly... OMIM:613885
Trisomy 20P
Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Talipes, Short neck, Everted lowe... ORPHA:261318
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma ... OMIM:613091
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hea... OMIM:616331
Rhyns Syndrome
Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Brach... OMIM:602152
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Tetrasomy 5P
Low-set ears, Wide nasal bridge, Long philtrum, Respiratory distress, Short nose, Overlapping toe... ORPHA:3309
17Q24.2 Microdeletion Syndrome
Wide nasal bridge, Tooth malposition, Broad thumb, Abnormality of the ankle, Otosclerosis, Upper ... ORPHA:529962
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Intestinal Dysmotility Syndrome
Low-set ears, Diarrhea, Decreased intestinal transit time, Abdominal distention, Projectile vomit... OMIM:620045
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Short foot, Partial fusion of pr... OMIM:600383
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed... ORPHA:289157
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Achondrogenesis Type 1A
Abdominal distention, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchondral ossificati... ORPHA:93299
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Neu-Laxova Syndrome 2
Low-set ears, Toe syndactyly, Scoliosis, Finger syndactyly, Micrognathia, Cerebellar hypoplasia, ... OMIM:616038
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... OMIM:613849
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Hypoplastic helices, Clubbing of toes, Ectrodactyly, Low-set, posteriorly ... ORPHA:2437
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ... OMIM:180849
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... ORPHA:1120
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Low-set,... ORPHA:2631
Neu-Laxova Syndrome
Osteomalacia, Cerebral calcification, Micrognathia, Broad foot, Everted lower lip vermilion, Larg... ORPHA:2671
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Sensorineural... OMIM:605432
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ... OMIM:614900
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Feeding difficulties, Arachnodactyly, Short neck, Everted lower lip vermilion, High ... OMIM:613776
Oculofaciocardiodental Syndrome
Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ... ORPHA:2712
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph... ORPHA:79345
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly... OMIM:182212
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Wide nasal bridge, Microretrognathia, Respiratory distress, Cerebral calcification,... ORPHA:89844
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hearing impairment, Genu valgum, Hip contracture, Talipes equinov... OMIM:222600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Feeding d... ORPHA:508498
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, R... OMIM:617616
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Microcephaly, T... ORPHA:85279
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the fem... ORPHA:536467
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Bilateral single transver... OMIM:620450
Metaphyseal Dysplasia, Spahr Type
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Osteochondritis dissecans, Metaphyseal ch... OMIM:250400
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Hea... ORPHA:84
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Agenesis of c... OMIM:134780
Congenital Syphilis
Periostitis, Diarrhea, Hearing impairment, Hyperplasia of the maxilla, Large placenta, Malabsorpt... ORPHA:499009
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... ORPHA:70587
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Mosaic Trisomy 9
Low-set ears, Limitation of joint mobility, Elbow dislocation, Micrognathia, Talipes equinovarus,... ORPHA:99776
Heart And Brain Malformation Syndrome
High, narrow palate, Cerebellar vermis hypoplasia, Hand clenching, Global brain atrophy, Cleft li... OMIM:616920
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o... ORPHA:2632
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Overfriendliness, Thin upper lip vermilion, Microcephaly, Short neck, Smooth philtr... OMIM:620439
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Stenosi... OMIM:207410
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Hypoplastic aortic arch, Kyphoscoliosis, Arachnodact... OMIM:614846
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Atresia of the external auditory canal, ... ORPHA:672
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, poster... ORPHA:1926
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing... OMIM:166210
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Small hand, Joint contracture of the hand, Hearing impairment, Atresia o... OMIM:224690
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobil... OMIM:601492
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Abnormality of the dentition, Wide nasal bridge, Broad thumb, Clinodactyly, Promine... OMIM:618529
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Atresia of the external audito... ORPHA:1393
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Venous mal... ORPHA:75508
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Vertebral wedging, Hearing impairment, Bowing ... OMIM:301014
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hearing impairment, Non-midline clef... ORPHA:245
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Diaphanospondylodysostosis
Low-set ears, Unossified sacrum, Tracheomalacia, Delayed vertebral ossification, Polymicrogyria, ... OMIM:608022
Anophthalmia Plus Syndrome
Tessier cleft, Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rota... ORPHA:1104
Focal Dermal Hypoplasia
Low-set ears, Erythema, Toe syndactyly, Finger syndactyly, Hearing impairment, Open bite, Acute h... ORPHA:2092
Hallermann-Streiff Syndrome
Thin ribs, Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Telangiectasia, Everted lower l... OMIM:234100
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Respir... OMIM:217980
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Broad thumb, Hearing impairment, Hypoplasia of the corpus callosum, Agenesis of cor... ORPHA:481152
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cerebral calcification, Mi... ORPHA:628
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall... ORPHA:949
Blomstrand Lethal Chondrodysplasia
Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protru... ORPHA:50945
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Smith-Magenis Syndrome
Abnormal forearm morphology, Abnormality of the outer ear, Velopharyngeal insufficiency, Everted ... OMIM:182290
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes planus, Slit-like opening of t... OMIM:607323
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... ORPHA:1452
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microgloss... ORPHA:1307
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal lip morphology, ... ORPHA:2759
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
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Flexion contracture, Micrognat... ORPHA:314588
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ... OMIM:184250
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, O... ORPHA:192
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flatte... OMIM:618363
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of the corpus callosum, Talipes eq... OMIM:269150
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Mic... ORPHA:1166
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Wide nasal bridge, Limitat... ORPHA:178303
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Nasal regurgitation, Episodic respiratory distress, Sensorineural hearing impairmen... ORPHA:98914
Congenital Myasthenic Syndrome
Low-set ears, Nasal regurgitation, Episodic respiratory distress, Sensorineural hearing impairmen... ORPHA:590
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Feeding difficulties in infan... OMIM:212720
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... ORPHA:2886
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira... ORPHA:2257
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Hearing impairme... OMIM:184705
Orofaciodigital Syndrome Xix
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... OMIM:620107
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Spondyloepiphyseal Dysplasia Congenita
Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delayed pubic bone ... OMIM:183900
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Atresia of the external... OMIM:154400
Mietens-Weber Syndrome
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... OMIM:249600
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Sh... ORPHA:439822
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck... OMIM:166250
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Short fo... OMIM:269860
Van Maldergem Syndrome 2
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac... OMIM:615546
Fryns Syndrome
Micrognathia, Agenesis of corpus callosum, Short neck, Anal atresia, High palate, Non-midline cle... ORPHA:2059
Generalized Arterial Calcification Of Infancy
Hearing impairment, Medial calcification of large arteries, Osteomalacia, Cerebral calcification,... ORPHA:51608
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Mic... ORPHA:763
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar fla... OMIM:215045
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narrow mouth, Malar fla... ORPHA:261295
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture... ORPHA:1143
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... ORPHA:485
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Micrognathia, Thin upper lip ve... ORPHA:2015
Nail-Patella Syndrome
Patellar aplasia, Sensorineural hearing impairment, Talipes equinovarus, Pes planus, Disproportio... OMIM:161200
Stickler Syndrome, Type I
Micrognathia, Sensorineural hearing impairment, Arachnodactyly, Beaking of vertebral bodies, Pier... OMIM:108300
De Barsy Syndrome
Low-set ears, Prominent veins on trunk, Talipes calcaneovalgus, Narrow mouth, Excessive wrinkled ... ORPHA:2962
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Sensorine... ORPHA:959
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver func... OMIM:608104
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Ham... ORPHA:137888
Meckel Syndrome 14
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Retrognathi... OMIM:619879
Smith-Lemli-Opitz Syndrome
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Talipes calcaneovalgus, Recurrent o... OMIM:270400
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can... OMIM:610536
Achondroplasia
Hearing impairment, Flat acetabular roof, Cervical spinal canal stenosis, Functional abnormality ... ORPHA:15
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Limitation of joint mobility, Sensorineural hearing impairment, Di... ORPHA:217093
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility OMIM:276821
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... OMIM:311900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Aplasia... ORPHA:3186
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge... ORPHA:93322
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Sensorineural hearing impairment, Motor stereotypy, Flexion contrac... ORPHA:580
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Weill-Marchesani Syndrome 2
Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Patent ductus arte... OMIM:608328
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Sensorineural hearing impairment, Di... ORPHA:217085
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Cerebellar vermis hypoplasia, Wide nasal bridge, Long philtrum, Delayed cranial sut... OMIM:619383
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly OMIM:615993
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... OMIM:609166
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Pat... OMIM:117650
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... OMIM:255800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Genu valgum, Narrow mouth, Micrognathia, Intervertebral space narrowing, Radi... OMIM:614078
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Hypoplastic iliac wing, Micro... OMIM:119600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Protein-losing enteropathy, Wide nasal bridge, Hepatic failure, Abdominal distentio... OMIM:235255
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Malar ... ORPHA:3144
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Progeroid facial ... OMIM:608154
Jacobsen Syndrome
Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Finger syndactyly, Long hallux, Agenesis of c... ORPHA:2308
Blount Disease, Adolescent
Osteochondritis dissecans, Genu varum, Bowing of the legs OMIM:259200
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ... ORPHA:93262
Charge Syndrome
Low-set ears, Micrognathia, Sensorineural hearing impairment, Overriding aorta, Radial head sublu... OMIM:214800
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... OMIM:200600
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o... OMIM:253220
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... OMIM:246560
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Cleft soft palate, Reduced subcutaneous adipose tissue, Arachnodactyly, Tal... OMIM:615582
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha... ORPHA:1865
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Diffuse white matter abnormalities, Hypoplasia of the maxilla, Flexion contrac... OMIM:218000
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Short ribs,... OMIM:614524
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte... OMIM:619345
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Small hand, Hearing impairment, Feeding difficulties, Hypoplasia of the corpus call... OMIM:300968
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Open b... ORPHA:794
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Craniometadiaphyseal Dysplasia
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum... OMIM:269300
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... OMIM:170390
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Calcification of... OMIM:109400
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Hypo... ORPHA:3010
Severe Acute Respiratory Syndrome
Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia ORPHA:140896
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ... ORPHA:2554
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short... OMIM:305400
8Q24.3 Microdeletion Syndrome
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Talipes, Short neck, P... ORPHA:508488
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu... ORPHA:35107
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis OMIM:617898
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
20Q13.33 Microdeletion Syndrome
Hematochezia, Dilation of Virchow-Robin spaces, Prominent crus of helix, Low-set, posteriorly rot... ORPHA:261311
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... ORPHA:2972
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Bilateral single transverse palmar creas... ORPHA:3380
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... ORPHA:99772
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hearing impairment, Tetralogy of Fallot, Anterior creases of earlobe, Mi... ORPHA:1727
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Abdominal ... OMIM:602557
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Overlapping fingers, Micrognathia, Hypoplasia of the corpus callosum, Talipes equ... OMIM:618291
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis,... ORPHA:1248
Shprintzen-Goldberg Syndrome
Low-set ears, Elbow dislocation, Genu valgum, Micrognathia, Bowing of the long bones, Arachnodact... ORPHA:2462
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Broad thumb, Micrognathia, Open mouth, Agenesis of corpus callosum, Arachnodactyly,... OMIM:309520
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Tube fe... OMIM:620369
Hurler Syndrome
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Short neck, Diaph... OMIM:607014
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Wrist hypermobility, Feeding difficulties, Hypoplasia ... ORPHA:544503
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypopl... ORPHA:457395
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Arachnodactyly, Tali... ORPHA:567
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Respiratory distress, Secondary microcephaly, Feeding difficulties, Micro... OMIM:615042
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Rothmund-Thomson Syndrome
Carious teeth, Diarrhea, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the... ORPHA:2909
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Talipes equinovarus, Dysp... OMIM:614399
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Macrotia, Short nose, Gastroe... ORPHA:3342
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Lethal Recessive Chondrodysplasia
Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Genera... ORPHA:1423
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the... ORPHA:3412
Alfadhel Syndrome
Low-set ears, Retrognathia, Joint hypermobility, Microcephaly, Talipes equinovarus, Smooth philtr... OMIM:620655
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Varicose veins, T... ORPHA:500095
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Ankle flexion contracture, Nasogastric tube feeding, Micrognathia, ... ORPHA:284417
Dubowitz Syndrome
Small hand, Broad thumb, Toe syndactyly, Hearing impairment, Aplasia/Hypoplasia of the corpus cal... ORPHA:235
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d... OMIM:608799
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... OMIM:256520
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Small hand, Premature coronary artery atherosclerosis, Retrognathia, Long philtrum,... OMIM:300845
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Microcephaly, ... OMIM:258865
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... OMIM:271665
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Short neck, Abnormal metaca... OMIM:268300
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh... OMIM:263650
Achondrogenesis, Type Ib
Hypoplastic ilia, Abdominal distention, Micromelia, Umbilical hernia, Absent or minimally ossifie... OMIM:600972
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes pla... OMIM:620663
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Gastroesophageal reflux, Clinodactyly, Slender long bone... OMIM:613805
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Hearing impairment, Abnormality of the temporoma... ORPHA:73
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Clinodactyly, Thick lower lip vermilion, Absent antih... ORPHA:293939
Distal Deletion 15Q
Low-set ears, Small hand, Hearing impairment, Genu valgum, Micrognathia, Talipes equinovarus, Pat... ORPHA:1596
Waardenburg Syndrome Type 1
Wide nasal bridge, Mandibular prognathia, Hearing impairment, Cleft upper lip, Premature graying ... ORPHA:894
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Micrognathia, Right aortic arch, Transposition of the great arteri... OMIM:231060
Pfeiffer Syndrome Type 2
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Atresia of the external... ORPHA:93259
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Narrow mouth, Chronic constipation, Patent ductus arteriosus, Gastroesophageal refl... OMIM:619480
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta... ORPHA:3404
Acromelic Frontonasal Dysostosis
Low-set ears, Short tibia, Tubulonodular pericallosal lipoma, Hypoplasia of the corpus callosum, ... OMIM:603671
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Dysphagia, ... OMIM:619751
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Sheldon-Hall Syndrome
Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone... ORPHA:1147
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callo... OMIM:618779
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Opsismodysplasia
Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flat acetabul... OMIM:258480
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calci... OMIM:222765
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Large hands, High palate, Restlessness, Short foot, Macrotia, ... OMIM:300534
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Inte... OMIM:300048
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Death in child... OMIM:614437
Spondyloepiphyseal Dysplasia Congenita
Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movem... ORPHA:94068
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinova... OMIM:611209
Pitt-Hopkins Syndrome
Tooth malposition, Small hand, Abnormal helix morphology, Aplasia/Hypoplasia of the corpus callos... ORPHA:2896
Iniencephaly
Low-set ears, Narrow mouth, Encephalocele, Talipes equinovarus, Anal atresia, Holoprosencephaly, ... ORPHA:63259
Acalvaria
Talipes, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polyda... ORPHA:945
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Syndactyly, Scapular winging, Acrocyanosis, Cleft palate, Upper limb a... ORPHA:2901
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Open mouth, Micrognathia, Sen... ORPHA:193
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, A... ORPHA:2753
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Lower limb undergrowth, Microcephaly, Orofacial cleft, Craniosynostosis, Forearm undergrowth OMIM:218650
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ... ORPHA:64754
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Dys... ORPHA:581
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Periventricular leukomalacia, Protruding ear, Micro... OMIM:618302
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Hypoplasia of the olfactory bu... ORPHA:251061
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th finge... OMIM:614407
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Open mouth, Hypoplasia of the corpus callosum, Agenes... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Open mouth, Hypoplasia of the corpus callosum, Agenes... ORPHA:363958
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Microdontia, Madelung ... ORPHA:1765
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Feeding difficulties, Micrognathia, Microcephaly, Thin v... ORPHA:261304