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Gene: Prrx1 MGI:97712

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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.

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, Microglossia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, ... OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Respiratory distress, Low-set, posteriorly rotated ears, Narrow internal auditory c... ORPHA:990

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
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,... ORPHA:166002
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... OMIM:620076
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Hearin... OMIM:620099
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot... OMIM:608545
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Clinodactyly, ... ORPHA:96148
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Fliedner-Zweier Syndrome
Self-injurious behavior, Tethered cord, Long philtrum, Hypoplastic aortic arch, Hypoplasia of the... OMIM:620511
Cohen Syndrome
Genu valgum, Open mouth, Micrognathia, Narrow palm, Feeding difficulties in infancy, Pes planus, ... OMIM:216550
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... ORPHA:2496
Sialuria
Low-set ears, Wide nasal bridge, Long philtrum, Long hallux, 2-3 toe syndactyly, Thin upper lip v... OMIM:269921
Temple Syndrome
Bifid uvula, Small hand, Clinodactyly, Relative macrocephaly, Recurrent otitis media, Feeding dif... OMIM:616222
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... ORPHA:3098
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Overfriendliness, Short neck, Pes pl... OMIM:123450
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Gastroesophageal reflux, Atr... ORPHA:2306
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the... ORPHA:1529
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Hypoplasia of the corpus callosum, Microcephaly, M... ORPHA:85165
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft p... OMIM:119800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Hearing impairment, Malnutrition, Malabsorption, Gastrointestinal ... OMIM:613662
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Renal artery ... ORPHA:1435
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Hearing impairment, Bowing of the arm, Increased susceptibility to fra... OMIM:613982
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Cornelia De Lange Syndrome 1
Low-set ears, Cutis marmorata, Micrognathia, Sensorineural hearing impairment, Short neck, High p... OMIM:122470
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Short neck, Thor... OMIM:114300
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Hypoplasia of the corpus cal... OMIM:213980
Familial Visceral Myopathy
Camptodactyly of finger, Low-set, posteriorly rotated ears, Umbilical hernia, Joint stiffness, Mi... ORPHA:2604
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Agenesis of corpus callosum, Sensorineural hearin... ORPHA:87
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl... OMIM:164220
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Dysostosis, Stanescu Type
Carious teeth, Cerebral calcification, Bowing of the long bones, Short neck, Increased bone miner... ORPHA:1798
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal, Hemiatrophy, Abnormal morphol... ORPHA:1350
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Hyperplasia of the maxilla, Recurrent otitis media, Micrognathia, Hy... ORPHA:513456
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Abnormal antihelix morphology, Encephalocele, Talipes,... ORPHA:2162
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow... OMIM:187600
Metatropic Dysplasia
Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, Camp... ORPHA:2635
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia ORPHA:264675
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Retrognathia, Cleft soft palate, Periventricular leukomalacia, Abnormal caud... ORPHA:293725
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Succinic Acidemia
Respiratory distress OMIM:600335
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Abdominal distention, Atherosclerosis, Lumbar hyperlord... ORPHA:1830
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Limitation of joint mobility, Feeding difficulties, Cleft soft pala... ORPHA:99742
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilat... ORPHA:314655
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Talipes equinovarus, Spi... OMIM:211960
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Cerebral a... OMIM:614261
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Gastroesophageal reflux, Retr... OMIM:618853
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Prominent crus of helix, Genu valgum, Hip contracture, Hypoplasia of the corpus cal... OMIM:619194
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality o... ORPHA:2319
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Monosomy 18Q
Bilateral conductive hearing impairment, Open mouth, Sensorineural hearing impairment, Arachnodac... ORPHA:1600
Oncogenic Osteomalacia
Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ... ORPHA:352540
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sanda... ORPHA:90650
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Bifid uvula, Conductive hearing impairment, Prominent fingertip pads, Thick lower l... OMIM:617412
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... OMIM:619950
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, ... OMIM:612863
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Sensorineural hearing impairment, B... OMIM:215150
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... ORPHA:3201
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Ankyloglossia, Agenesis of corpus callosum, Sensorineural hearing im... ORPHA:250989
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Abnormal foot morphology, Short tubular bones of the hand, Hypo... OMIM:200610
Lowry-Maclean Syndrome
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Delayed eruption of primar... ORPHA:2409
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Sensorineural hearing impairment... ORPHA:353281
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Subcutaneous calcification, Radial bowing OMIM:617993
Crisponi/Cold-Induced Sweating Syndrome 1
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Pes pla... OMIM:272430
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Lower limb asymmetry, Joint dislocation, Multiple enchondromatosis,... ORPHA:85198
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis... ORPHA:226313
Laryngotracheoesophageal Cleft
Dyspnea, Recurrent respiratory infections, Cyanosis ORPHA:2004
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Widely-spaced incisors, Hypoplasia of the corpus callosum, Thin upper ... OMIM:618737
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Narrow mouth, Sensorineural hearing impairment, Talipes, Talipes equinovarus, Short... OMIM:300990
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Limitation of joint mobility, Hearing impairment, Narrow mouth, Bilate... ORPHA:261279
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Cerebrofacioarticular Syndrome
Caudal appendage, Micrognathia, Narrow mouth, Irregular dentition, Hypoplasia of the corpus callo... ORPHA:314679
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Agenesis of corp... ORPHA:2658
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Bilateral conductive hearing impairment, Agenesis of pe... OMIM:216300
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Enlarged vestibular aqueduct, Hypoplasti... OMIM:157800
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Broad foot, Absent fifth metatarsal... OMIM:620662
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Low-set ears, Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short... OMIM:616723
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, Broad long bones, Micrognathi... OMIM:257850
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, O... OMIM:618494
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Congenital hip dislocation, Low-set ears, Abnormal temper ta... ORPHA:457279
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Low-se... ORPHA:2189
Cree Impaired Intellectual Development Syndrome
Low-set ears, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of... OMIM:606851
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... ORPHA:1145
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Abnormal vertebral morphology, Conductive hearing impairment, Ab... OMIM:239800
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger... ORPHA:1786
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck,... ORPHA:2636
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Micromelia, Long philtrum, Respiratory distress, Horizontal ribs,... OMIM:617895
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Adnp Syndrome
Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Focal wh... ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Thin ribs, Low-set ears, Fractured rib, Patent ductus arteriosus, Osteopenia, Gastroesophageal re... OMIM:618188
Microphthalmia, Syndromic 2
Hand clenching, Hypoplasia of the corpus callosum, Contracture of the proximal interphalangeal jo... OMIM:300166
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Pes planus, F... ORPHA:177907
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Narrow mouth, ... ORPHA:138
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Brachydactyly, Cli... OMIM:604381
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conducti... OMIM:616367
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Short digit, Clin... ORPHA:228190
Nievergelt Syndrome
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ... OMIM:163400
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abnormal thumb morphology, Abn... ORPHA:2639
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, ... OMIM:202650
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Occipital Horn Syndrome
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Cerebral calcification, Genu ... ORPHA:198
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Sacral dimple, Feeding difficulties, Narrow mouth, Single transverse... OMIM:615502
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymph... ORPHA:1655
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ri... ORPHA:66637
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Unilateral polymicrogyr... ORPHA:319171
Pyknoachondrogenesis
Low-set ears, Craniofacial hyperostosis, Abnormal intramembranous ossification, Unossified sacrum... ORPHA:3003
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cerebellar hypopl... OMIM:300712
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis... OMIM:101800
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Stenosis of the external auditory canal, Feeding difficulties,... OMIM:606164
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, O... ORPHA:1507
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... OMIM:166300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, N... OMIM:224410
Pfeiffer Syndrome Type 3
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Hearing impairment, Lim... ORPHA:93260
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal joint morphology, Lumbar scoliosis, Cerebral white matter atrophy, Short neck, Metaphyse... ORPHA:99646
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Micrognathia, Short neck, Pes planus, High palate, Biparietal narrowin... ORPHA:251071
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Malnutrition, Respiratory distress, Micrognathia, Narrow mouth, Hypod... OMIM:612776
Double Outlet Right Ventricle
Intestinal malrotation, Tetralogy of Fallot, Feeding difficulties, Narrow mouth, Cyanosis, Submuc... ORPHA:3426
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Nablus Mask-Like Facial Syndrome
Low-set ears, Joint contracture of the hand, Clinodactyly, Secondary microcephaly, Narrow mouth, ... OMIM:608156
Osteogenesis Imperfecta, Type Xiii
Hearing impairment, Arachnodactyly, Dislocated radial head, Wide distal femoral metaphysis, Femor... OMIM:614856
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Open bite, Micrognat... OMIM:115150
Meier-Gorlin Syndrome 3
Low-set ears, Micrognathia, Narrow mouth, Patellar aplasia, Aplasia/Hypoplasia of the patella, Ta... OMIM:613803
Trisomy 8P
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Agenesis of corp... ORPHA:264450
Lateral Meningocele Syndrome
Low-set ears, Micrognathia, Short neck, High palate, Patent ductus arteriosus, Biconcave vertebra... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Recurrent otitis media, Broad foot, Metaphyseal dysplasia, Broad phalanx, ... ORPHA:2502
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Microcephaly, Tracheoesophageal fistula, Spina b... ORPHA:63862
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu... OMIM:109120
Meier-Gorlin Syndrome 4
Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Slender long bone, Thick lower lip verm... OMIM:613804
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Joint dislocation, Cartilage destruction ORPHA:2380
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Fac... ORPHA:93932
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Hand clenching, Narrow palate, Gastroesophageal reflux, Arthrogryposis multiplex co... OMIM:618186
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Anteriorly place... OMIM:123790
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Low-set, posteriorly ro... ORPHA:83
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Umbilical hernia, Micrognathia, Protuberant abdomen, Macrocephaly, Kyphos... OMIM:618272
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Internally rotated shoulders, Recurre... OMIM:619503
Stickler Syndrome
Hearing impairment, Open bite, Genu valgum, Micrognathia, Sensorineural hearing impairment, Arach... ORPHA:828
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Diarrhea, Gastroesophageal reflux, Vomiting, Sensorineural hearing impairmen... ORPHA:298
Toriello-Carey Syndrome
Low-set ears, Clinodactyly, Hearing impairment, Micrognathia, Hypoplasia of the corpus callosum, ... ORPHA:3338
Duane Retraction Syndrome
Hearing impairment, Micrognathia, Sensorineural hearing impairment, Talipes equinovarus, Aplasia/... ORPHA:233
Myhre Syndrome
Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairment, Hypoplastic iliac w... OMIM:139210
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Multiple suture cra... ORPHA:207
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... OMIM:617974
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,... ORPHA:1540
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Esophagitis, Oral aversion, Epis... ORPHA:1199
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens... ORPHA:353277
Zttk Syndrome
Low-set ears, Small hand, Narrow mouth, Hypoplasia of the corpus callosum, Feeding difficulties i... OMIM:617140
Cardiofaciocutaneous Syndrome
Genu valgum, Excessive wrinkled skin, Short neck, Feeding difficulties in infancy, High palate, B... ORPHA:1340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath... OMIM:210710
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Marden-Walker Syndrome
Low-set ears, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Arachnodactyly, Talipes, R... ORPHA:2461
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
You-Hoover-Fong Syndrome
Vascular ring, Clinodactyly, Hearing impairment, Kyphoscoliosis, Microcephaly, Coarctation of aor... OMIM:616954
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Gastroesophageal reflux, Overtubulated long bones, R... OMIM:619793
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Clinodactyly, Anteriorly... ORPHA:1708
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... OMIM:253000
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... ORPHA:2741
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Hypoplasia of the corpus callosum, Agenes... OMIM:607872
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Alagille Syndrome 1
Low-set ears, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Hepatic failu... OMIM:118450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum,... ORPHA:1778
Atelosteogenesis Type I
Platyspondyly, Low-set ears, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebra... ORPHA:1190
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... OMIM:253010
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Equinovarus deformity, Feeding difficulties... ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the pons, Hearing impairment, Retrogn... OMIM:620157
Raine Syndrome
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Cerebral calcificatio... OMIM:259775
Hypophosphatasia, Childhood
Rachitic rosary, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... OMIM:241510
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Kyphoscoliosis, ... OMIM:608149
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Hearing impairment, Joint stiffness, Femoral bowing,... ORPHA:1860
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Microcephaly, Anal atresia, Mandibular prognathia, Macrotia ORPHA:93950
Ollier Disease
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... ORPHA:296
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Cerebr... ORPHA:436003
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... OMIM:617746
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis ORPHA:2776
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Feeding difficulties, Chronic constipation, Short neck, Feedi... OMIM:617506
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Respiratory distress, Apnea, Sensorineural hearing impairment, A... ORPHA:79097
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Long foot, Abno... ORPHA:2707
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Conducti... ORPHA:2095
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Feeding difficulties, Micrognathia... ORPHA:3310
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, En... ORPHA:666
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se... ORPHA:2789
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zyg... ORPHA:560
Mosaic Trisomy 1
Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachno... ORPHA:1692
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia ORPHA:93283
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
2Q31.1 Microdeletion Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Short n... ORPHA:251014
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co... ORPHA:1299
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Polymicrogyria, Butterfly vertebrae, ... OMIM:304050
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Lower limb asymmetry, Tooth agenesis, Abnormality of the wrist, Abnormal femur mor... ORPHA:2063
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Low-set ears, Hearing impairment, Prominent scalp veins, Subluxati... ORPHA:536471
Hydrolethalus Syndrome 1
Low-set ears, Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb under... OMIM:236680
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Joint stiffness, Micrognathia, Bilateral sin... ORPHA:2516
Floating-Harbor Syndrome
Low-set ears, Carious teeth, Clinodactyly, Short neck, Broad fingertip, Celiac disease, Dislocate... ORPHA:2044
Hajdu-Cheney Syndrome
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased... ORPHA:955
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Dubowitz Syndrome
Low-set ears, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Feeding difficulties in ... OMIM:223370
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Agenesis of corpus callosum, Talipes equinovaru... ORPHA:261494
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Craniofaciofrontodigital Syndrome
Large hands, Finger joint hypermobility, Patent ductus arteriosus, Osteopenia, Gastrointestinal h... ORPHA:363705
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Short ... ORPHA:1001
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent otitis media, Recurrent hand flapping, Submucous cleft har... OMIM:619680
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge... OMIM:305620
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... ORPHA:2491
Laron Syndrome
Limb undergrowth OMIM:262500
Thalidomide Embryopathy
Abnormality of the outer ear, Hearing impairment, Preaxial hand polydactyly, Radial club hand, An... ORPHA:3312
ERI1-related disease
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finge... OMIM:608739
Mgat2-Cdg
Osteopenia, Gastroesophageal reflux, Dental crowding, Prominent antihelix, Abnormal earlobe morph... ORPHA:79329
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... ORPHA:36238
Myhre Syndrome
Craniofacial hyperostosis, Hearing impairment, Narrow mouth, Hypoplasia of the maxilla, Abnormal ... ORPHA:2588
Zimmermann-Laband Syndrome 1
Low-set ears, Aortic root aneurysm, Hearing impairment, High palate, Gingival fibromatosis, Paten... OMIM:135500
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Bowing of the legs ORPHA:156728
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Cleft soft palate, Thin upper lip vermilion, Primary microcephaly, Upl... OMIM:620183
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hearing impairment... ORPHA:1826
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Vascular d... ORPHA:2924
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Low-set ears, Lambdoidal craniosynos... OMIM:101400
Hajdu-Cheney Syndrome
Low-set ears, Genu valgum, Fibular bowing, Narrow mouth, Micrognathia, Crowded carpal bones, Abse... OMIM:102500
Kabuki Syndrome 2
Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Feeding diff... OMIM:300867
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Low-set ears, Wide nasal bridge, Long philtrum, Widely spaced teeth, Trident pelvis, Short lingua... OMIM:619479
Buratti-Harel Syndrome
Low-set ears, Bifid uvula, Broad thumb, Dilation of Virchow-Robin spaces, Velopharyngeal insuffic... OMIM:619314
Andersen-Tawil Syndrome
Low-set ears, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Dental crowdin... ORPHA:37553
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, High palate,... ORPHA:861
Coffin-Lowry Syndrome
Hearing impairment, Cutis marmorata, Open mouth, Sensorineural hearing impairment, Pes planus, Ev... OMIM:303600
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Low-set ears, Broad thumb, Gastroesophageal reflux, Sandal gap, Broad hallux, C... OMIM:600987
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, A... ORPHA:1555
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Hypochondroplasia
Micromelia, Short toe, Abnormal femur morphology, Bowing of the long bones, Brachydactyly, Abnorm... ORPHA:429
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Supernumera... OMIM:619122
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Nasogastric tube feeding, Resp... ORPHA:329178
Feingold Syndrome Type 1
Interrupted aortic arch, Toe syndactyly, Conductive hearing impairment, Short thumb, Duodenal atr... ORPHA:391641
Congenital Varicella Syndrome
Micromelia ORPHA:291
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Hearing impairment, Delayed eruption o... OMIM:149730
Lethal Congenital Contracture Syndrome 8
Hammertoe, Death in infancy, Neonatal death OMIM:616287
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Prominent ear helix, Ankyloglossia, Limited hip movement, Micrognat... ORPHA:740
Gaucher Disease, Perinatal Lethal
Low-set ears, Hepatic failure, Everted upper lip vermilion, Retrognathia, Respiratory distress, A... OMIM:608013
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the ver... ORPHA:3429
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia ORPHA:747
Thoracomelic Dysplasia
Genu valgum, Short ribs, Limb undergrowth, Diaphyseal undertubulation, Abnormal fibula morphology... ORPHA:1803
Native American Myopathy
Progressive congenital scoliosis, Bifid uvula, Gastroesophageal reflux, Conductive hearing impair... ORPHA:168572
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short neck, Advanced ossification of c... OMIM:610442
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, Hearing impairment, Cleft soft palate, Hypoplasia of the corpus callosum, Osteocho... ORPHA:268261
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio... ORPHA:228396
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Hearing impairment, Apnea, Recurrent hand flapping, Protruding tongue, Cyanosis, ... OMIM:619580
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Low-set ears, Abnormality of the outer ear, Coronal craniosynos... ORPHA:313855
Schimke Immunoosseous Dysplasia
Platyspondyly, Wide nasal bridge, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capita... OMIM:242900
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hyp... OMIM:119100
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Umbilical hernia, Elbow contracture, Knee contracture, Hypoventilation, ... OMIM:620275
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Toe syndactyly, Finger syndactyly... ORPHA:3253
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Microretrognathia, Hypoplasia of the brainstem, Single transverse ... OMIM:236500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxill... ORPHA:306542
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari... OMIM:608670
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ... ORPHA:2215
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Genu valgum, Cyanosis, Hypoplasia of the corpus callosum, Sensorineura... ORPHA:488627
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... ORPHA:2563
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Hea... OMIM:610682
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H... ORPHA:79127
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae, Submucous cleft hard ... OMIM:617660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Hypoplasia of the corpus callosum, Arachnodactyly, Feeding diff... ORPHA:500150
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of the earlobes, Wide na... ORPHA:1968
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Sensori... OMIM:305450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Conductive hearing impairment, Absent septum pel... OMIM:609053
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Hearing impairment, Feeding difficulties, Cleft soft palate, Micrognathia, Sub... ORPHA:2282
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Left superior vena cava draining to coronary sinus, Bilate... OMIM:306955
Radio-Renal Syndrome
High, narrow palate, Micromelia, Downturned corners of mouth, Abnormal form of the vertebral bodi... ORPHA:3015
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Femoral ... OMIM:617022
Peters-Plus Syndrome
Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Short lingual frenulum, Broad... OMIM:261540
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Aplasia of the epiglo... OMIM:617088
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Poor suck OMIM:300580
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Palmoplantar keratoderma... OMIM:129400
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Aplasi... ORPHA:2378
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Recurrent otitis medi... OMIM:169400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Tooth malposition, Small hand, Limitation of joint mobility, Hearing impairment, Ov... ORPHA:480880
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... OMIM:164210
Feingold Syndrome 1
Low-set ears, Interrupted aortic arch, Wide nasal bridge, Short thumb, Short toe, Duodenal atresi... OMIM:164280
Classical-Like Ehlers-Danlos Syndrome Type 2
Tooth malposition, Periodontitis, Elbow dislocation, Aortic root aneurysm, Prominent veins on tru... ORPHA:536532
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Osteopenia, Atlantoaxial instability, Conductive hearing impairment, Bruising sus... OMIM:614557
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Mixed hearing impairment, Osteoporosis,... OMIM:126550
Goldberg-Shprintzen Syndrome
Low-set ears, Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Hypoplasia of the brainst... OMIM:609460
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Diarrhea, Abnormal fear-induced behavior, Hearing impairment, Nausea, ... ORPHA:100924
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Aplasia Cutis Congenita
Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Abnormality of bone mineral density ORPHA:1114
Walker-Warburg Syndrome
Low-set ears, Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, ... ORPHA:899
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, Tracheomalacia, Camptodactyly of finger, Cutaneou... ORPHA:896
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Micrognathia, Sensorineural hearing ... OMIM:113620
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Dilatation of the cerebral artery, Back pain, Abdominal distention OMIM:174050
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Clinodactyly of the 5th f... OMIM:167730
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Micrognathia, Chronic constipation, Feeding difficulties in infancy, Pes ... ORPHA:476126
Lacrimoauriculodentodigital Syndrome
Low-set ears, Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Microgn... ORPHA:2363
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia ORPHA:70588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Microglossia, Postaxial po... OMIM:263520
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Interrupted aortic arch, Bulbous tips of toes, Intracranial h... ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Decreased liver function, Polymicrogyria, Respiratory distress, Death in... OMIM:616974
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal form of the vertebral bodies,... ORPHA:2311
Pseudoachondroplasia
Abnormal femoral epiphysis morphology, Hypoplasia of the odontoid process, Short femoral neck, Fl... ORPHA:750
Hypophosphatasia, Infantile
Unossified vertebral bodies, Vertebral clefting, Anorexia, Increased susceptibility to fractures,... OMIM:241500
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Long foot, Chronic constipation, Long palm, Mac... OMIM:300676
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, A... OMIM:616462
Boomerang Dysplasia
Wide nasal bridge, Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius OMIM:112310
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b... ORPHA:89936
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Respiratory distress, Low-set, posteriorly rotated ears, Narrow internal auditory c... ORPHA:990
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Sensorineural hearing i... ORPHA:261330
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Radioulnar synosto... OMIM:130070
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress, Sensorineural... ORPHA:2596
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Gastroesophageal reflux, Conductive hearing impairment, Feeding di... ORPHA:261197
Keutel Syndrome
Short distal phalanx of finger, Hearing impairment, Recurrent otitis media, Calcification of cart... ORPHA:85202
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Hearing ... OMIM:616507
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Micromelia, Upper limb undergrowth, Genu valgum, Short palm, Coxa var... ORPHA:93351
Toluene Embryopathy
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Microcephaly, Smoot... ORPHA:1920
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert... OMIM:610978
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion... ORPHA:438216
Treacher Collins Syndrome 2
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... OMIM:613717
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Interrupted aortic arch, Gastroesophageal reflux, Vomiting, Cerebral atrophy... ORPHA:17
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Conical tooth, Cleft lip, Palmoplantar keratoderma, Atresia of the external au... OMIM:106260
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Donohue Syndrome
Low-set ears, Thick lower lip vermilion, Long foot, Gingival overgrowth, Large hands, Abdominal d... OMIM:246200
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla, Restlessness OMIM:300266
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Feeding... ORPHA:3206
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory... OMIM:613309
Laryngomalacia
Respiratory distress OMIM:150280
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip ve... OMIM:200990
Diamond-Blackfan Anemia
Low-set ears, Wide nasal bridge, Cleft lip, Absent thumb, Short thumb, Abnormality of the thenar ... ORPHA:124
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Myelomeningocele, ... ORPHA:1752
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Bilateral cleft pa... OMIM:610829
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Cerebral hypoplasia, Reduced cerebral white matter volume, Respiratory distress, Hypoplasia of th... OMIM:617977
Catel-Manzke Syndrome
Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Micrognathia, Talipes... OMIM:616145
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ... ORPHA:95699
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Patent ductus arteriosus, ... OMIM:275210
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Kyphomelic Dysplasia
Micromelia, Micrognathia, Missing ribs, Bowing of the long bones, Large hands, Abnormal metaphysi... ORPHA:1801
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Dysphagia, Infantile sensorineural hearing... ORPHA:254875
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Coffin-Siris Syndrome 12
Low-set ears, Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Microgna... OMIM:619325
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Severe conductive hearing impairment, Poor wound healing, Genu valgum, Pes ... ORPHA:230851
Mogs-Cdg
Retrognathia, Nasogastric tube feeding, Respiratory distress, Overlapping fingers, Apnea, Hypoven... ORPHA:79330
Prolidase Deficiency
Erythema, Carious teeth, Palmoplantar keratoderma, Hearing impairment, Hypoplasia of the zygomati... ORPHA:742
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption o... ORPHA:1071
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum... OMIM:604757
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel ... ORPHA:1812
Triploidy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Low-set, po... ORPHA:3376
Mucolipidosis Type Ii
Limitation of joint mobility, Hip contracture, Sensorineural hearing impairment, Talipes equinova... ORPHA:576
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Feeding difficulties, Abnormal bas... ORPHA:397715
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, C... OMIM:617478
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Subdural hemorrhage, Nasogastric tube feeding, Respiratory distres... OMIM:620278
Ophthalmoplegia, External, And Myopia
Absent Achilles reflex, Absent patellar reflexes, Spina bifida OMIM:311000
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal pain, Abdominal distention, Jaundice ORPHA:313906
Nicolaides-Baraitser Syndrome
Broad 2nd toe, Short lingual frenulum, Excessive wrinkled skin, Everted lower lip vermilion, Shor... OMIM:601358
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Mi... ORPHA:2521
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Dental crowding, Feeding difficulties, Protruding tongue, Submucous cleft hard... OMIM:618106
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Sacral dimp... OMIM:613603
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia, Macrocephaly ORPHA:2867
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Absent Achilles reflex, Paradoxical respi... OMIM:620011
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Genu v... ORPHA:63446
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi... ORPHA:3145
Ruvalcaba Syndrome
Small hand, Micromelia, Short foot, Short metatarsal, Short phalanx of finger, Short metacarpal, ... OMIM:180870
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c... OMIM:265000
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Tetralogy of F... OMIM:617159
Isolated Childhood Apraxia Of Speech
High, narrow palate, Abnormal caudate nucleus morphology, Submucous cleft hard palate, Caudate at... ORPHA:209908
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Cyanosis, Thoracic kyphoscoliosis, Triceps weakness, Abnormality... ORPHA:98913
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Secondary microcephaly, Long hallux, Recurrent otitis media, Genu valgum, Open... ORPHA:261537
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Macrotia ORPHA:93945
Holoprosencephaly 13, X-Linked
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Micrognathia,... OMIM:301043
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Brachydactyly, Micromelia, Camptodactyly of finger ORPHA:2928
3Mc Syndrome 1
Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Broad foot, Radioulnar synosto... OMIM:257920
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Mandibular prognathia, Head-banging, Unilateral cleft lip, Focal polymicrogyria, Th... OMIM:619103
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly OMIM:614526
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Polymicrogyria, Hypoplasia of the corpus callosum, Knee flexion contracture, Posta... OMIM:603387
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Hand mus... OMIM:211530
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Low-set, p... ORPHA:2167
Meier-Gorlin Syndrome 7
Low-set ears, Hearing impairment, Narrow mouth, Aplasia/Hypoplasia of the patella, Sensorineural ... OMIM:617063
Primrose Syndrome
Hearing impairment, Cerebral calcification, Genu valgum, Narrow mouth, Hip contracture, Hypoplasi... OMIM:259050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Microcephaly, Atten... OMIM:619227
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Hearing impairment, Abnormal tibia morphology, Genu ... ORPHA:1328
Fibrous Dysplasia Of Bone
Hearing impairment, Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, B... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Small e... OMIM:608728
Short Stature-Micrognathia Syndrome
Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Retrognathia, Feeding difficulties, Micr... OMIM:617164
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Waardenburg Syndrome, Type 1
Wide nasal bridge, Supernumerary vertebrae, Premature graying of hair, Myelomeningocele, Congenit... OMIM:193500
Gabriele-De Vries Syndrome
Low-set ears, Abnormality of the dentition, Aortopulmonary collateral arteries, Sandal gap, Thick... OMIM:617557
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Abnormal basal ganglia mor... ORPHA:391428
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Hand muscle weakness, Respiratory distress, Hypoventilation, Triangular mo... ORPHA:98915
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypopla... ORPHA:2769
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of external ear, Mi... ORPHA:2399
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Bresek Syndrome
Low-set ears, Hearing impairment, Neonatal death, Protruding ear, Aganglionic megacolon, Microcep... ORPHA:85284
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Orofaciodigital Syndrome Type 1
Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Agenesis of corpus callosum, Foot... ORPHA:2750
Dravet Syndrome
Global brain atrophy, Tibial torsion, Obsessive-compulsive trait, Pes valgus, Limited knee extens... ORPHA:33069
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... OMIM:123500
Acrocardiofacial Syndrome
Low-set ears, Cerebral cortical atrophy, Wide nasal bridge, Toe syndactyly, Joint dislocation, Fi... ORPHA:2008
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Au-Kline Syndrome
Aortic root aneurysm, Overlapping toe, Feeding difficulties, Open mouth, Sensorineural hearing im... OMIM:616580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde... OMIM:619142
Mowat-Wilson Syndrome
Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Hypoplasia of the corpus call... ORPHA:2152
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger, Hypodontia, P... OMIM:181450
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Sandal gap, Hypoplasia of the zygomatic bone, Large earlobe, Malar promine... ORPHA:2715
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Larsen Syndrome
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Talipes equinovarus, Beaki... OMIM:150250
Trichohepatoneurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Overlapping toe, Fibular bowing, Talipes equinovarus, Bilat... OMIM:618268
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Neonatal death OMIM:614870
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Hearing impairment, Micrognathia, Hypoplasia of the corpus callosum, Short foot, Pa... OMIM:618454
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Robinow Syndrome
Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micr... ORPHA:97360
Mucopolysaccharidosis-Plus Syndrome
Wide nasal bridge, Respiratory distress, Cerebral calcification, Acetabular dysplasia, Death in c... OMIM:617303
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones... ORPHA:2369
Moebius Syndrome
Finger syndactyly, Hearing impairment, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hyp... ORPHA:570
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Mi... OMIM:619445
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Narro... OMIM:244450
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia,... OMIM:151050
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Hearing impairment, Micrognathia, Microcephaly, Hypoplasia of the radius OMIM:613951
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu... ORPHA:93329
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Conductive hearing impairment, Microcephaly, 2-3 finger syndactyly, Pa... OMIM:603467
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Pulmonary lymph... OMIM:265380
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol... ORPHA:2307
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... OMIM:620639
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Elsahy-Waters Syndrome
Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... OMIM:211380
Diamond-Blackfan Anemia 1
Delayed cranial suture closure, Micrognathia, Short neck, Small thenar eminence, High palate, Hyp... OMIM:105650
Caudal Duplication
Intestinal duplication, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cor... ORPHA:1756
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... ORPHA:710
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spinocerebellar tract disease in lower limbs, ... OMIM:248500
Lead Poisoning
Vomiting, Abdominal distention, Delayed eruption of teeth, Cranial hyperostosis, Nausea, Attentio... ORPHA:330015
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:615415
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, R... OMIM:612289
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place... ORPHA:1225
Mowat-Wilson Syndrome
Tooth malposition, Recurrent otitis media, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:235730
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:612387
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Rectal atr... OMIM:613390
Developmental And Epileptic Encephalopathy 89
Low-set ears, Wide nasal bridge, Microretrognathia, Cerebral atrophy, Long philtrum, Asymmetry of... OMIM:619124
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Arachnodactyly, High palate,... OMIM:208050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Toe syndactyly, 2-3 toe syndactyly, Limb undergrowth, Adducted thumb, Clinodactyly of the 5th fin... OMIM:616809
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Cerebral atrophy, Respiratory distress, Talipes equinovarus, Short femur OMIM:620306
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Slender finger, Diarrhea, Vomiting, Cerebral atrophy, Respiratory distress, Microcephaly, Pes pla... OMIM:250940
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Bowed forearm bones, Hydrocephalus, Vascular dilatation, Absent radius, Forearm und... OMIM:602200
Weill-Marchesani Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis,... OMIM:277600
Cog1-Cdg
Temporal cortical atrophy, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, High pala... ORPHA:263508
Malaria
Respiratory distress ORPHA:673
Avian Influenza
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Hypoxemia, M... ORPHA:454836
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Kabuki Syndrome
Small hand, Sensorineural hearing impairment, Vertebral clefting, High palate, Hip dislocation, M... ORPHA:2322
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineu... ORPHA:231169
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal f... OMIM:271225
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Recurrent otitis media, Prominent scalp veins, Narrow mouth, Reduced s... ORPHA:3455
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Syringomyelia, Hydr... OMIM:207950
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Hypoplastic anterior commissure, Secondary microcephaly, Long hallux, Recurren... ORPHA:261552
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Poor wound healing, Talipes equinovarus, Pes planus, Fragile skin, Patellar dislocation, Thoracic... ORPHA:1900
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Agenesis of corpus callosum, Ara... ORPHA:280
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... OMIM:601216
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Hypoplasia o... OMIM:300514
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Low-set ears, Wide nasal bridge, Coronal craniosynostosis, Retrognathia, Respiratory d... ORPHA:83617
Branchiootic Syndrome
Abnormality of the outer ear, Lip pit, Hearing impairment, Conductive hearing impairment, Atresia... ORPHA:52429
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Abnormal antiheli... ORPHA:3047
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema ORPHA:2038
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Joint hypermobility, Wormian bones, Pes valgus, Pes planus, Cox... OMIM:619131
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Short nose, Downturned corners of mouth, Cerebral atrophy, Protruding ear, Atte... OMIM:301030
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Pol... ORPHA:220493
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Short thumb, Brachydactyly, Cuboidal metacarpal, Tarsal synostosis, Short metacarp... ORPHA:968
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Atherosclerosis, Malnutrition, Villous atrophy, Abnormal small inte... ORPHA:95427
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Jeune Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Brachydactyly, Postaxial hand polydactyly... ORPHA:474
Barber-Say Syndrome
Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Talipes equinovarus... OMIM:209885
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Abnormality of the dentition, Wide nasal bridge, Umbilical hernia, Femoral bowing, Mic... OMIM:617952
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... ORPHA:860
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Cerebral hypoplasia, Abnormal cartilage matrix, Hypoplasia of the... ORPHA:86822
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Cowden Syndrome 5
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed... OMIM:615108
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal rib morphology, Pre... OMIM:192350
Aspartylglucosaminuria
Abnormal vertebral morphology, Carious teeth, Pes planus, Beaking of vertebral bodies, Anterior b... ORPHA:93
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Joint s... ORPHA:392
Atelis Syndrome 2
Low-set ears, Gastroesophageal reflux, Clinodactyly, Downturned corners of mouth, Diastema, Thick... OMIM:620185
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Broad fo... OMIM:201750
Small Bowel Atresia
Vomiting, Abnormal vascular morphology, Intestinal malrotation, Jejunal atresia, Intestinal hypop... ORPHA:1201
Greenberg Dysplasia
Rhizomelia, Micrognathia, Brachydactyly, Micromelia ORPHA:1426
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Death in early adultho... ORPHA:904
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Abnormality of the outer ear, Sensorineural hearing impairment, Pes planus, Short palm, Dysphagia... ORPHA:466943
Ctcf-Related Neurodevelopmental Disorder
Narrow mouth, Joint contracture of the 5th finger, Patent ductus arteriosus, Short nose, Osteopen... ORPHA:363611
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Pulmonary artery hypoplasia, Anomalous origin of left coronary artery from the pulmon... ORPHA:2326
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Submucous cleft hard palate, Microcephaly, Hyperactivity, Feeding diff... OMIM:619239
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Triceps weakness, Microcephaly, Calf muscle hypertrop... ORPHA:86812
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Patellar di... OMIM:188400
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Episodic Ataxia Type 1
Hand clenching, Respiratory distress, Vertigo, Kyphoscoliosis, Calf muscle hypertrophy, Nausea, S... ORPHA:37612
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Abdominal distention, Secretory diarrhea, Intestinal malrotation, Macrocephaly, Ana... OMIM:270420
Image Syndrome
Micromelia, Metaphyseal dysplasia ORPHA:85173
Coxoauricular Syndrome
Abnormal femur morphology, Micromelia ORPHA:1508
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp... OMIM:612847
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Recurrent ... OMIM:618426
Idiopathic Hypereosinophilic Syndrome
Angioedema, Swelling of proximal interphalangeal joints, Cutis marmorata, Feeding difficulties in... ORPHA:3260
Pachyonychia Congenita
Natal tooth, Palmoplantar keratoderma, Palmoplantar blistering, Oral leukoplakia, Respiratory dis... ORPHA:2309
Thanatophoric Dysplasia
Pulmonary hypoplasia ORPHA:2655
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Fractures of the long bones, Sandwich appearance of vert... OMIM:602080
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Death in infancy, Neonatal death OMIM:242500
Cowden Syndrome 6
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed... OMIM:615109
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
3Mc Syndrome 2
Abnormal vertebral morphology, Wide nasal bridge, Caudal appendage, Downturned corners of mouth, ... OMIM:265050
Meacham Syndrome
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... OMIM:608978
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Cutis marmorata, Chronic constipation, Arachnodactyly, Pes p... OMIM:617602
Cloacal Exstrophy
Intestinal duplication, Abnormal tibia morphology, Intestinal malrotation, Myelomeningocele, Tali... ORPHA:93929
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilateral cleft pa... ORPHA:2001
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Arachnodactyly, Pes planus, Car... ORPHA:91387
1P36 Deletion Syndrome
Delayed cranial suture closure, Narrow mouth, Agenesis of corpus callosum, Abnormal intestine mor... ORPHA:1606
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Maternal Phenylketonuria
Hypoplastic helices, Wide nasal bridge, Clinodactyly, Long philtrum, Tetralogy of Fallot, Microgn... ORPHA:2209
Opitz Gbbb Syndrome
Low-set ears, Natal tooth, Hearing impairment, Aortic root aneurysm, Ankyloglossia, Micrognathia,... ORPHA:2745
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99226
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... OMIM:618961
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:881
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... ORPHA:50814
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Intestinal obstruction, Abnormal common carot... ORPHA:449400
Intellectual Developmental Disorder, X-Linked 112
Gastroesophageal reflux, Cupped ear, Volvulus, Right aortic arch, Kyphoscoliosis, Madelung deform... OMIM:301111
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira... ORPHA:980
Tolchin-Le Caignec Syndrome
Low-set ears, Abnormal vestibular function, Wide nasal bridge, Umbilical hernia, Micrognathia, Na... OMIM:618971
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Talipes... ORPHA:818
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Self... ORPHA:1051
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Narrow mouth, Short... OMIM:617666
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Neonatal death OMIM:276822
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Abdominal distention ORPHA:369
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Floating-Harbor Syndrome
Low-set ears, Broad thumb, Carious teeth, Recurrent otitis media, Short neck, Broad fingertip, Ce... OMIM:136140
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... OMIM:610168
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Neonatal death, Brachydact... OMIM:187601
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Fanconi Anemia, Complementation Group L
Low-set ears, Wide nasal bridge, Absent thumb, Hypoplastic sacrum, Anotia, Feeding difficulties, ... OMIM:614083
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... OMIM:619638
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Congenital Disorder Of Deglycosylation 1
Low-set ears, Small hand, Dilation of Virchow-Robin spaces, Restlessness, Oral-pharyngeal dysphag... OMIM:615273
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Nasogastric tube feeding in infancy, Macroglossia, High palate, Poor suck ORPHA:254864
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Palmoplant... ORPHA:1775
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Arachnodactyly, Talipes equinovarus, Eosinophilic infiltration of the esoph... OMIM:614816
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Thin upper lip vermilion, Exertional d... OMIM:620233
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, Respiratory distress, Secondary microcephaly, 11 pairs of ribs, Bilate... ORPHA:50810
Primary Effusion Lymphoma
Dyspnea, Abdominal pain, Abdominal distention ORPHA:48686
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Tularemia
Respiratory distress, Otitis media, Oral ulcer ORPHA:3392
Kabuki Syndrome 1
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... OMIM:147920
Mycophenolate Mofetil Embryopathy
Tessier cleft, Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory can... ORPHA:268249
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Hand clenching, Dysphagia ORPHA:240103
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Pseudotrisomy 13 Syndrome
Low-set ears, Postaxial foot polydactyly, Cleft upper lip, Polymicrogyria, 11 pairs of ribs, Medi... OMIM:264480
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Agenesis of corpus callosum, Dandy-Walker malfor... ORPHA:93271
Niemann-Pick Disease, Type A
Vomiting, Cherry red spot of the macula, Foam cells with lamellar inclusion bodies, Feeding diffi... OMIM:257200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Talip... OMIM:612474
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cowden Syndrome 1
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Hemimega... OMIM:158350
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Hypoplastic scapulae, Finger swelling, Premature graying of hair, Recurrent otitis medi... OMIM:256040
Lathosterolosis
Hepatic failure, Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long ph... ORPHA:46059
Celiac Disease, Susceptibility To, 1
Diarrhea, Rickets, Vomiting, Cerebral calcification, Recurrent aphthous stomatitis, Abdominal pai... OMIM:212750
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Open mouth, Prominent metopic ridge, Hypoplasia of the corpus callosum, Agenesis of... ORPHA:457284
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
3-Methylglutaconic Aciduria, Type Viib
Brachioradialis areflexia, Rhizomelia, Cerebral atrophy, Respiratory distress, Micrognathia, Micr... OMIM:616271
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Abnormality of the wrist, P... ORPHA:3138
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Open mouth, Narrow mouth, Pes planus, Thick corpus callosum, Patent ductus arteriosus, High, narr... OMIM:300967
Farber Disease
Hepatic failure, Short toe, Short finger, Respiratory distress, Abnormal foot morphology, Abnorma... ORPHA:333
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Hypoplasia of the olfactory bulb, Patellar hypoplasia, Preaxial ... ORPHA:1827
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Hand clenching, Overlapping toe, Narrow mouth, Reduced subcutaneous adipose tissue,... OMIM:617402
Neuroocular Syndrome 1
Low-set ears, Ankyloglossia, Torus palatinus, Pes planus, Hyperextensibility of the finger joints... OMIM:619539
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... OMIM:601186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Atresia of the external auditory canal, Elbow dislocation, Cutis marm... ORPHA:199
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Limb-Mammary Syndrome
Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Malar flattening, Submucous cleft soft pala... ORPHA:69085
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Gastroesophageal reflux, Vomiting, He... ORPHA:206436
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limb undergrowth, Abnormal metaphysis morphology ORPHA:177
Perlman Syndrome
Low-set ears, Distal ileal atresia, Interrupted aortic arch, Wide nasal bridge, Volvulus, Everted... OMIM:267000
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Atresia of the exter... ORPHA:2673
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Elbow dislocation, Limitation of joint mobility, Nausea and vomiting, Arach... ORPHA:285
Peripheral Primitive Neuroectodermal Tumor
Abdominal distention, Vertigo, Abnormal thoracic spine morphology, Nausea and vomiting, Back pain... ORPHA:370348
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Chronic constipation, Talipes equinovarus, Pes planus, ... ORPHA:287
Shwachman-Diamond Syndrome 1
Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis, Proximal femoral me... OMIM:260400
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Wide nasal bridge, Toe syndactyly, Thin upper lip vermilion, Syringomyelia, Pulmonary artery sten... ORPHA:140952
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Retrognathia, Stenosi... ORPHA:107
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Respiratory distress, Feeding difficulties, Stroke, Microcephaly, Reye syndro... ORPHA:927
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... ORPHA:989
Congenital Fibrinogen Deficiency
Gingival bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Abdomina... ORPHA:335
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Lar... OMIM:249000
Restrictive Dermopathy
Thin ribs, Low-set ears, Natal tooth, Structural foot deformity, Large placenta, Narrow mouth, Mi... ORPHA:1662
Fanconi-Bickel Syndrome
Osteopenia, Hepatic failure, Rickets, Bowing of the long bones, Abdominal distention ORPHA:2088
Pseudohypoparathyroidism Type 1A
Basal ganglia calcification, Cerebral calcification, Sensorineural hearing impairment, Polyphagia... ORPHA:79443
Hardikar Syndrome
Cleft soft palate, Bilateral cleft palate, Thoracolumbar scoliosis, Celiac disease, Jaundice, Abd... OMIM:301068
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death in childhood, Enterocolitis OMIM:301108
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, ... ORPHA:3169
Hypertrichosis Cubiti
Rhizomelia, Micromelia ORPHA:2220
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal thumb morphology, Aplasia/Hypoplasia of the... ORPHA:1597
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Semilobar holoprosencephaly, Conductive hearing impairment, Hypoplasia of the zygom... OMIM:618500
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia... OMIM:601499
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Angelman Syndrome
Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,... OMIM:105830
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Diastema OMIM:179250
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, T... ORPHA:1295
Pallister-Killian Syndrome
Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, Delayed cranial suture ... OMIM:601803
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Umbilical h... ORPHA:116
Singleton-Merten Syndrome 1
Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Talip... OMIM:182250
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Noonan Syndrome
Osteopenia, Bruising susceptibility, Thick lower lip vermilion, Low-set, posteriorly rotated ears... ORPHA:648
Cat Eye Syndrome
Low-set ears, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulum, Volvul... OMIM:115470
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Erythema, Hearing impairment, Abnormal earlobe morphology, Retrognathia, Respi... ORPHA:2556
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Mandibular prognathia,... ORPHA:1101
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Sensorineural hearing impairme... OMIM:615066
Mosaic Variegated Aneuploidy Syndrome
Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears,... ORPHA:1052
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Bone-marro... ORPHA:75233
Fanconi Anemia, Complementation Group W
Absent thumb, Abnormal periventricular white matter morphology, Microcephaly, Hypoplasia of the r... OMIM:617784
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Agenesis of corpus callosum, Sensorineural hearin... OMIM:618733
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Broad thumb, Hearing impairment, Neonatal death, Broad first metatarsal, Everted lo... OMIM:619534
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia ORPHA:96179
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal stippling, Brachydactyly... OMIM:609616
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea ORPHA:444013
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Central hypoventilation, Cyanosis, Hypoventilation, Sensorin... ORPHA:293987
Gaucher Disease, Type Ii
Gastroesophageal reflux, Cerebral atrophy, Apnea, Death in infancy, Trismus, Protuberant abdomen,... OMIM:230900
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Anterior Cutaneous Nerve Entrapment Syndrome
Vertigo, Anorexia, Recurrent infection of the gastrointestinal tract, Nausea, Abdominal distentio... ORPHA:51890
Axenfeld-Rieger Syndrome
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hyp... ORPHA:782
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Spondyloenchondrodysplasia
Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Vasculitis, Dental malocclusion,... ORPHA:1855
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Abnormal corpus callosum morphology, Long philtrum, Polymicrogyria, Wide mouth, Open mouth, Lacto... ORPHA:457485
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Osteomyelitis, Death in childhood, Death in infancy, Dysplastic corpus ca... OMIM:619423
Loeys-Dietz Syndrome 1
Low-set ears, Aortic root aneurysm, Micrognathia, Arachnodactyly, Talipes equinovarus, Eosinophil... OMIM:609192
Alternating Hemiplegia Of Childhood
Skewfoot, Diarrhea, Abdominal distention, Downturned corners of mouth, Oral-pharyngeal dysphagia,... ORPHA:2131
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive hearing impairment, Respiratory distress, Abdominal pain, Dysphagia, Feeding difficul... OMIM:620166
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Carious teeth, Xerostomia, Absence of Stensen duct, Ectodermal dysplasia, Anal at... OMIM:129900
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Brachydactyly, Metaphyseal widening, Mesomelia OMIM:612813
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Focal cortical dysplasia, Cerebral atrophy, Respiratory distress,... OMIM:604377
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... OMIM:615237
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs OMIM:619073
Neurofibromatosis, Type I
Tibial pseudarthrosis, Genu valgum, Renal artery stenosis, Hydrocephalus, Spina bifida, Macroceph... OMIM:162200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Respiratory distress, Dilatation of the cerebral artery, Transien... ORPHA:365
Tetanus
Respiratory distress, Stiff neck, Tachypnea, Trismus, Abdominal pain, Dysphagia, Bowel incontinence ORPHA:3299
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Right aortic arch, Chronic sinusitis,... OMIM:618300
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence OMIM:179270
Hartsfield Syndrome
Low-set ears, Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencepha... OMIM:615465
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, ... ORPHA:2166
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Hypoxemia, Agenesis ... ORPHA:556955
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Split hand, Brachydactyly ORPHA:2145
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Super... ORPHA:199302
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Micromelia, Genu valgum, Sandal gap ORPHA:1035
Meester-Loeys Syndrome
Aortic root aneurysm, Poor wound healing, Arachnodactyly, Pes planus, High palate, Pulmonary arte... OMIM:300989
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Brachydactyly, Mesomelia ORPHA:171866
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Dyspnea, Abdominal pain, Pedal edema ORPHA:168811
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... ORPHA:284984
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Poland Syndrome
Abnormality of the outer ear, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, E... ORPHA:2911
Coccidioidomycosis
Vasculitis, Abnormality of the vertebral column, Hearing impairment, Respiratory distress, Broad ... ORPHA:228123
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Painless fractures due to injury, Respiratory distress, Auto... OMIM:256810
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Al-Gazali Syndrome
Gastrojejunal tube feeding in infancy, Osteopenia, Broad distal phalanx of finger, Micrognathia, ... OMIM:609465
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Oral ulcer, Arthritis, Abdominal distention, Dyspnea, Abdominal pain ORPHA:93552
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Phakomatosis Pigmentokeratotica
Hemiatrophy, Hypophosphatemic rickets, Scoliosis, Spina bifida ORPHA:2874
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal thumb ... ORPHA:1842
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... ORPHA:85167
Isolated Atp Synthase Deficiency
Respiratory distress, Cerebral cortical atrophy, Microcephaly, Sensorineural hearing impairment ORPHA:254913
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respiratory distress, A... ORPHA:93958
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Otosclerosis 10
Otosclerosis OMIM:615589
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention, Congenital pyloric atresia, Oral mucosal blisters, Fragile skin, ... ORPHA:158684
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... OMIM:619656
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Liver Disease, Severe Congenital
Dependency on parenteral nutrition, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiti... OMIM:619991
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Cleft soft palate, Narrow ... OMIM:154500
Achondrogenesis Type 1B
Short foot, Talipes equinovarus, Micrognathia, Micromelia ORPHA:93298
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Secondary microcephaly, Feeding difficulties, Apnea, Open mouth, Gingiv... OMIM:620423
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... ORPHA:99106
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Cyanosis, Abdominal rigidity, Abdominal diste... ORPHA:391673
Japanese Encephalitis
Genu recurvatum, Distal upper limb muscle weakness, Abnormality of the internal capsule, Diarrhea... ORPHA:79139
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Thyroid Hemiagenesis
Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia ORPHA:95719
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Hearing impairment, Atresia of the external auditory c... ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Carious teeth, Toe syndactyly, Xerostomia, Ectrodactyly, Selective tooth agenesis,... OMIM:604292
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... OMIM:619143
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Limitation of joint mobility, S... ORPHA:169805
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Calf muscle hypertrophy, Dysphagia... OMIM:620375
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastroparesis, Abdominal disten... ORPHA:85443
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Agenesis of corpus callosum, Bilateral cl... OMIM:610828
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Low-set ears, Subdural hemorrhage, Cerebral atrophy, Respiratory distress, P... ORPHA:79282
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Vasculitis, Erythema, Cerebral atrophy, Intracerebral periventricular calcif... OMIM:225750
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Respiratory distress, Broad ribs, Hypoplasia of the corpus callosum, Sho... ORPHA:2519
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Leprechaunism
Low-set ears, Megarectum, Abdominal distention, Long foot, Reduced subcutaneous adipose tissue, P... ORPHA:508
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Decreased liver function, Respiratory distress, Death in childhood, Sensorin... OMIM:220110
Orofaciodigital Syndrome Xiv
Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Hypoplasia of the corpus callos... OMIM:615948
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Nausea and vomiting, Stroke, Anorexia, Abdominal pain, Feeding difficulties ORPHA:79312
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Cerebral cortical atrophy, Craniofacial hyperostosis, Cerebral atrophy, ... ORPHA:2396
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Hearing impairment OMIM:617577
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Death in childhood, Pulmonary hypoplasia OMIM:214100
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Sandal gap, Neonatal death, Clinodactyly of the 5th finger, Tapered distal ph... OMIM:609638
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneury... OMIM:620025
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
4Q21 Microdeletion Syndrome
Small hand, Toe syndactyly, Micromelia, Short foot, Short palm ORPHA:238750
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... OMIM:122880
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Clubbing, Gastroint... OMIM:187300
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Liver Failure, Infantile, Transient
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... OMIM:613070
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Cleft upper lip, Macrotia, Absent pulmonary artery, Tetralogy ... OMIM:600460
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebral atrophy, Respiratory distress, Stroke-like episode, Microceph... OMIM:619272
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Marfan Syndrome
Aortic root aneurysm, Open bite, Micrognathia, Limited elbow movement, Arachnodactyly, Pes planus... ORPHA:558
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnod... OMIM:613795
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea ORPHA:31826
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan... ORPHA:99125
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Vascular dilatation, Abdominal distention, Abdominal pain, Spontaneo... OMIM:277320
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Feeding difficulties... ORPHA:275761
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal tibia morphology, Abnormality of the sphenoid sinus, Genu valgum, Micrognathia, Hypoplas... ORPHA:363700
Stt3B-Cdg
Respiratory distress ORPHA:370924
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomi... ORPHA:79276
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Hepatic foam cells, Acute hepatic failure, Death in infancy,... OMIM:278000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Microcephaly... OMIM:619321
Eisenmenger Syndrome
Respiratory distress, Vertigo, Tetralogy of Fallot, Cyanosis, Stroke, Aortopulmonary window, Pate... ORPHA:97214
Autosomal Dominant Cutis Laxa
Low-set ears, Small bowel diverticula, Delayed cranial suture closure, Talipes calcaneovalgus, Di... ORPHA:90348
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... ORPHA:221008
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Long philtrum, Hypoplasia of the zygomatic bone, Single tra... OMIM:614800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice ORPHA:26793
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Facial telangiectasia, Intermittent jaundice, Episodic abdominal ... ORPHA:100085
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Cerebral atrophy, Talipes valgus, Pes cavus, Hypoplasia of the corpus callo... OMIM:618891
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hypoplasia of the corpus callosum, Abdominal distention, Jaundice, Thi... OMIM:618528
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Cranial hyperostosis, Venous m... OMIM:612918
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Pulmonary Hypertension, Primary, 1
Telangiectasia, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary ... OMIM:178600
Noonan Syndrome 1
High, narrow palate, Low-set ears, Dental malocclusion, Radial deviation of finger, Clinodactyly,... OMIM:163950
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Hepatic failure, Vomiting, Focal T2 hyperintense basal ganglia lesion, Apnea... OMIM:252010
Fanconi Anemia, Complementation Group U
Absent thumb, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Absent radius, Ab... OMIM:617247
Unilateral Polymicrogyria
Pseudobulbar paralysis, Nasogastric tube feeding, Apnea, Cyanosis, Pulmonary arteriovenous malfor... ORPHA:268943
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Gastroesophageal reflux, Transient ischemic attack, Cutis marmorata, Nausea and vomit... ORPHA:183
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... ORPHA:221016
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs ORPHA:2570
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Metachromatic Leukodystrophy, Late Infantile Form
Bilateral sensorineural hearing impairment, Feeding difficulties in infancy, Punctate periventric... ORPHA:309256
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Agenesis ... ORPHA:93317
Currarino Syndrome
Anal stenosis, Absence of the sacrum, Gastrointestinal obstruction, Bifid sacrum, Chronic constip... OMIM:176450
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Sotos Syndrome
Abnormal vertebral morphology, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Hip... ORPHA:821
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Joint dislocation, Aortic dissection, Bruising susceptibility, ... ORPHA:60030
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Joubert Syndrome 21
Dyspnea, Apnea, Pulmonary hypoplasia OMIM:615636
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Micromelia, Brachydactyly, Clinodactyly of the 5th finger... ORPHA:3121
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerotic vertebral endpla... ORPHA:2905
Desmoplastic Small Round Cell Tumor
Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention ORPHA:83469
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Diarrhea, Limitation of joint mobility, Gastrointestinal hemorrhage, Recurr... ORPHA:343
Fanconi Anemia, Complementation Group D2
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Preaxial hand polydactyly, Bruising ... OMIM:227646
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Cerebral calcification, Lumbar hyperlordosis, Joint stiffness, Recurrent ga... ORPHA:505248
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Tooth abscess, Rickets, Bowing of the legs ORPHA:89937
Isolated Arrhinia
Tessier cleft, Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage,... ORPHA:1134
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
17Q11 Microdeletion Syndrome
Low-set ears, Abnormality of the sphenoid sinus, Large hands, Osteopenia, Dilatation of the cereb... ORPHA:97685
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Metachromatic Leukodystrophy, Juvenile Form
Bilateral sensorineural hearing impairment, Punctate periventricular T2 hyperintense foci, Abdomi... ORPHA:309263
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Pulmonary hypoplasia OMIM:308050
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Pulmonary hypoplasia OMIM:200995
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea ORPHA:99103
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Fucosidosis
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Anterior beaking of ... ORPHA:349
Thauvin-Robinet-Faivre Syndrome
Macrotia, Long foot, Long hallux, Varicose veins, Thick vermilion border, Sensorineural hearing i... OMIM:617107
Aicardi-Goutières Syndrome
Low-set ears, Degeneration of the striatum, Moyamoya phenomenon, Cerebral calcification, Calcific... ORPHA:51
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Sensorineural hearing impairment, Abdominal distention, Thoracic aorti... OMIM:619351
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention, Pyloric stenosis OMIM:256300
Pagod Syndrome
Pulmonary artery hypoplasia, Encephalocele, Abnormality of the pulmonary artery, Abnormal aortic ... ORPHA:991
Hereditary Angioedema Type 1
Diarrhea, Dermatographic urticaria, Vomiting, Respiratory distress, Intestinal edema, Abdominal p... ORPHA:100050
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Bacterial Toxic-Shock Syndrome
Diarrhea, Vomiting, Respiratory distress, Osteomyelitis, Abnormality of the lower limb, Ecchymosi... ORPHA:36234
Alkaptonuria
Joint dislocation, Atherosclerosis, Calcification of cartilage, Joint stiffness, Hearing abnormal... ORPHA:56
Autosomal Recessive Multiple Pterygium Syndrome
Pulmonary hypoplasia ORPHA:2990
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter... OMIM:610655
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Microcephaly, Short neck, Hypoplasia of the radius, Anal atresia OMIM:610832
Metachromatic Leukodystrophy, Adult Form
Bilateral sensorineural hearing impairment, Punctate periventricular T2 hyperintense foci, Bowel ... ORPHA:309271
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring... OMIM:612852
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Hypohidrotic ectoderma... OMIM:305100
Primary Peritoneal Carcinoma
Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Brain-Lung-Thyroid Syndrome
Respiratory distress, Abnormal eating behavior, Agenesis of corpus callosum, Sensorineural hearin... ORPHA:209905
Ablepharon-Macrostomia Syndrome
Low-set ears, Toe syndactyly, Microtia, third degree, Hearing impairment, Anteriorly placed anus,... OMIM:200110
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Facial telangiectasia, Ce... OMIM:600376
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Neuroblastoma
Respiratory distress, Pathologic fracture, Spinal cord compression, Abdominal distention, Chronic... ORPHA:635
Hall-Riggs Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly ORPHA:2107
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice OMIM:615512
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Pmm2-Cdg
Feeding difficulties, Pes planus, High palate, Abnormal pinna morphology, Macrotia, Cerebellar ve... ORPHA:79318
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Abnormal oral mucosa morphology, Vomiting, Malnutrition, Respirato... ORPHA:79404
Listeriosis
Arteritis, Diarrhea, Hearing impairment, Vomiting, Respiratory distress, Osteomyelitis, Stiff nec... ORPHA:533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Carious teeth, Periodontitis, Bruising susceptib... ORPHA:79259
Wilson Disease
Hepatic failure, Chondrocalcinosis, Vomiting, Osteomalacia, Acute hepatic failure, Joint hypermob... OMIM:277900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia ORPHA:2772
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... OMIM:618870
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micromelia, Micrognathia, Short ribs, Bowing of the long bones, Adducted thumb, Metaphyseal widen... OMIM:224400
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
X-Linked Acrogigantism
Diastema, Long foot, Polyphagia, Large hands, Abdominal distention ORPHA:300373
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Jaundice, Abdominal pain, Abdominal distention, Dysp... ORPHA:160
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Congenital pyloric atresia, Nausea and vomiting, Oral mucosal blisters, Intestinal atr... ORPHA:79403
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death OMIM:613730
Ovarian Fibroma
Abdominal pain, Odontogenic keratocysts of the jaw, Abdominal distention ORPHA:314473
Ogden Syndrome
Peripheral pulmonary artery stenosis, Facial wrinkling, Apnea, Pulmonary edema, Pulmonary artery ... OMIM:300855
Myotonic Dystrophy 1
Cerebral atrophy, Respiratory distress, Obsessive-compulsive trait, Feeding difficulties in infan... OMIM:160900
Dpm1-Cdg
Sandal gap, Long hallux, Micrognathia, Limb undergrowth, Camptodactyly ORPHA:79322
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth ORPHA:79243
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Brachydactyly ORPHA:1784
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin ORPHA:367
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr... OMIM:112250
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Myasthenia Gravis
Rheumatoid arthritis, Hearing impairment, Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs ORPHA:93274
Peritoneal Cystic Mesothelioma
Abdominal pain, Constipation, Abdominal distention ORPHA:168816
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J... ORPHA:1416
Polyembryoma
Abdominal pain, Abnormal sacrum morphology, Abdominal distention ORPHA:180229
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Microretrognathia, Bowing of the long bones, Angulated humerus, Mesomelia OMIM:616229
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Letterer-Siwe Disease
Dyspnea, Jaundice, Stomatitis, Abdominal distention OMIM:246400
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, Vascular ring OMIM:601927
Gonadoblastoma
Abdominal pain, Abdominal distention ORPHA:206484
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Malabsorption, Abnormal metaphysis morphology, Aganglionic megacolon, Biparietal narrowing, Long ... ORPHA:935
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Fanconi-Bickel Syndrome
Rickets, Osteomalacia, Malabsorption, Reduced subcutaneous adipose tissue, Abdominal distention, ... OMIM:227810
Multiple Endocrine Neoplasia Type 2
Diarrhea, Abdominal distention, Abnormal tongue morphology, Ganglioneuromatosis, Reduced subcutan... ORPHA:653
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Becker Nevus Syndrome
Abnormal tibia morphology, Micromelia ORPHA:64755
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Bifid sternum, Right aortic arch OMIM:140850
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Hydroceph... ORPHA:3016
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Ovarian Fibrothecoma
Abdominal pain, Abdominal distention ORPHA:314478
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Oculopharyngodistal Myopathy 1
Respiratory distress, Sensorineural hearing impairment, Abnormal cerebral white matter morphology... OMIM:164310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Cerebral white matter atrophy, Hypoperistalsis, Abdominal distention OMIM:619365
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Primary Biliary Cholangitis
Hepatic failure, Dermatographic urticaria, Jaundice, Osteoporosis, Abdominal distention, Steatorr... ORPHA:186
Glutamine Deficiency, Congenital
Camptodactyly, Micromelia OMIM:610015
Microcephalic Primordial Dwarfism, Dauber Type
Clinodactyly of the 5th finger, Limb undergrowth, Short middle phalanx of the 5th finger, Abnorma... ORPHA:319675
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Respiratory distress, Feeding difficulties in infancy, Macroglossia, Multifoc... ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Micromelia, Short ribs, Wide distal femoral metaphysis OMIM:613320
Hereditary Spherocytosis
Jaundice, Abdominal pain, Gout, Abdominal distention ORPHA:822
Cocaine Intoxication
Vomiting, Aortic dissection, Respiratory distress, Gastrointestinal infarctions, Ischemic stroke,... ORPHA:90068
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Cirrhosis, Familial
Jaundice, Fulminant hepatitis, Esophageal varix, Abdominal distention OMIM:215600
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation, Jaundice, Pulmonary hypoplasia ORPHA:731
Tibial Hemimelia
Absent tibia OMIM:275220
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Respiratory distress, Cerebellar hemorrhage, Abnormal globus pallidus morphol... OMIM:251000
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal OMIM:600092
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Cleft Soft Palate
Cleft soft palate OMIM:119570
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... ORPHA:2021
Q Fever
Pneumonia, Respiratory distress, Pleural effusion, Abnormal pulmonary interstitial morphology, Pu... ORPHA:781
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Excessive wrinkle... ORPHA:286
Cryptococcosis
Abnormality of the outer ear, Cerebral cortical atrophy, Vomiting, Respiratory distress, Osteomye... ORPHA:1546
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Malar fl... OMIM:157170
Histiocytoid Cardiomyopathy
Vomiting, Stroke-like episode, Cyanosis, Agenesis of corpus callosum, Tachypnea, Hydrocephalus, C... ORPHA:137675
Aortic Aneurysm, Familial Thoracic 10
Dural ectasia, Dental crowding, Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneu... OMIM:617168
Lujo Hemorrhagic Fever
Diarrhea, Vomiting, Respiratory distress, Stiff neck, Ecchymosis, Nausea, Dysphagia, Cerebral ede... ORPHA:319213
Biotinidase Deficiency
Myelopathy, Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Hy... ORPHA:79241
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia OMIM:229850
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Absence of the sacrum, Tethered cord, Hydromyelia, Rectal abscess, Myelomenin... OMIM:600145
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera... ORPHA:157215
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Abnormal pleura morphology, Recurrent respiratory infections ORPHA:537
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Aplasia/hypoplasia involving bones of the extremities, Postaxial foot polyda... ORPHA:508533
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Hereditary Fructose Intolerance
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Abdominal pain, Constipation, Abdominal dist... ORPHA:469
Gitelman Syndrome
Chondrocalcinosis, Polydipsia, Diarrhea, Respiratory distress, Vertigo, Cerebral calcification, G... ORPHA:358
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Vomiting, Secretory diarrhea, Nasogastric tube feeding, Respiratory distress, Osteomyelitis, Ileu... ORPHA:37042
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Hearing impairment, Chapped lip, Respira... ORPHA:707
Criss-Cross Heart
Cyanosis ORPHA:1461
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Rickets, Osteomalacia, Abdominal pain, Osteoporosis, Abdominal distention, Steatorrhea,... ORPHA:309031
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, Camptodactyly of finger, Lim... ORPHA:354
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Nausea, Abdominal pain, Abdominal distention, Jaundice ORPHA:521219
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Chondrodysplasia-Difference Of Sex Development Syndrome
Micromelia, Short phalanx of finger, Short metacarpal ORPHA:1422
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malr... ORPHA:210122
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Rhizomelia, Genu valgum, Metaphyseal striations, Flat capital femoral epiphysis, Brach... OMIM:271510
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy OMIM:617156
Thyroid Ectopia
Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia, Dysphagia ORPHA:95712
Gm1-Gangliosidosis, Type Ii
Hypoplastic vertebral bodies, Limb undergrowth, Coxa valga OMIM:230600
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abdo... ORPHA:2241
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Feeding difficulties in infancy, Neuropathic arthrop... OMIM:223900
Campomelia, Cumming Type
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly ORPHA:1318
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis ORPHA:31204
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Right aortic arch, Persistent left superior vena cava, Chronic sinu... OMIM:620642
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Focal T2 hyperintense basal ganglia lesion, Apnea, Episodic respiratory distress... ORPHA:255210
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress, Petechiae, Abnormal lymphatic vessel morphology, Abdominal disten... ORPHA:2330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Abdominal distention, Oral synechia, Generalized abnormality of skin, Respi... ORPHA:95455
Ovarian Hyperstimulation Syndrome
Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention ORPHA:64739
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:613751
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Limb undergrowth, Micrognathia, Short toe OMIM:225410
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia OMIM:208150
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar... OMIM:613834
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspnea ORPHA:340
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Metaphyseal irregu... OMIM:618162
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs ORPHA:1834
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Umbilical hernia, Respiratory distress, Intestinal malrotation, Cervical... ORPHA:2255
Gallbladder Neuroendocrine Tumor
Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Anorexia, Nausea ORPHA:100086
Alström Syndrome
Lumbar scoliosis, Polyphagia, Pes planus, Thickened ears, Abnormality of dental color, Esophageal... ORPHA:64
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida ORPHA:83628
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Wide nasal bridge, Tracheomalacia, Intestinal malrotation, Tetralogy of ... OMIM:618280
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre... OMIM:614748
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention, Neonatal death OMIM:619362
Geleophysic Dysplasia 3
Limb undergrowth, Short foot, Brachydactyly OMIM:617809
Meacham Syndrome
Pulmonary sequestration, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abno... ORPHA:3097
Adult-Onset Still Disease
Erythema, Joint swelling, Cartilage destruction, Arthritis, Arthralgia/arthritis, Abdominal pain ORPHA:829
Tuberous Sclerosis Complex
Self-injurious behavior, Generalized abnormality of skin, Respiratory distress, Pulmonary lymphan... ORPHA:805
Sponastrime Dysplasia
Mesomelia, Metaphyseal irregularity, Rhizomelia, Flattened humeral epiphyses, Short femoral neck,... ORPHA:93357
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Oral ulcer, Protuberant abdomen, Osteoporosis OMIM:232220
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Broad finger ORPHA:488632
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Hypoplasia of the olfactory bulb, Failure of eruption of permanen... ORPHA:2250
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Infantile Systemic Hyalinosis
Micromelia, Brachydactyly, Short palm, Camptodactyly of finger ORPHA:2176
Primary Hyperoxaluria
Abnormality of the dentition, Abnormal dental pulp morphology, Cutis marmorata, Generalized osteo... ORPHA:416
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Hypomagnesemia 3, Renal
Vomiting, Rickets, Polydipsia, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Feeding d... OMIM:248250
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Short Stature, Microcephaly, And Endocrine Dysfunction
Limb undergrowth, Clinodactyly OMIM:616541
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Interrupted aortic arch, Microcolon, Cervical ribs, Intestinal malrotation, Um... OMIM:600001
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Intestinal atresia, Abdominal dis... ORPHA:436252
Glycogen Storage Disease Ia
Osteoporosis, Intermittent diarrhea, Gout, Protuberant abdomen OMIM:232200
Heterotaxy, Visceral, 6, Autosomal
Transposition of the great arteries, Total anomalous pulmonary venous return, Right aortic arch, ... OMIM:614779
Fraser Syndrome
Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation ORPHA:2052
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Feeding difficulties in infancy, Constipation, Abdominal distention, Macroglossia OMIM:218700
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Brachydactyly, Coxa vara, Clinodactyly of the 5th finger, Abnormal metaphysis morphology ORPHA:2637
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Dermatomyositis
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ... ORPHA:221
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Postinfectious Vasculitis
Palpable purpura, Cerebral vasculitis, Anorexia, Cutis marmorata, Ischemic stroke, Vascular dilat... ORPHA:48435
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Exstrophy-Epispadias Complex
Anal stenosis, Abnormal joint morphology, Microcephaly, Hydrocephalus, Spina bifida, Anal atresia ORPHA:322
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage, Esophagitis, Exertional dyspnea ORPHA:3348
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, M... OMIM:616894
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Limb undergrowth OMIM:618005
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Join... ORPHA:29207
Norrie Disease
Self-injurious behavior, Cerebral cortical atrophy, Abnormal helix morphology, Malar flattening, ... ORPHA:649
Pancreatoblastoma
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Jaundice ORPHA:677
Colchicine Poisoning
Respiratory distress ORPHA:31824
Leptospirosis
Respiratory distress, Jaundice, Pulmonary hemorrhage, Pleural effusion ORPHA:509
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Short foot, Broad femoral neck ORPHA:488434
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Slc39A8-Cdg
Cutaneous syndactyly of toes, Limb undergrowth ORPHA:468699
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... OMIM:180700
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Synostosis of carpal bones, Micromelia, Genu valgum, Hand polydac... ORPHA:289
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Genu valgum, Metatarsus valgus, Bowing of the long bones, Talipes equin... ORPHA:800
Hyperoxaluria, Primary, Type I
Pathologic fracture, Cutis marmorata, Peripheral arterial stenosis, Increased bone mineral densit... OMIM:259900
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Limb undergrowth ORPHA:99843
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Mesomelia OMIM:613457
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Short ribs, Brachydactyly, Postaxial hand po... OMIM:613610
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral... ORPHA:3107
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilio... OMIM:180500
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Bilateral superior vena cava with bridging vein, Pulmonary artery atresia, Double aorti... ORPHA:216694
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Atresia Of Urethra
Patent urachus, Abdominal distention ORPHA:105
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Dihydropyrimidine Dehydrogenase Deficiency
Micromelia ORPHA:1675
Multicystic Dysplastic Kidney
Abdominal distention ORPHA:1851
C Syndrome
Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo... ORPHA:1308
Peters Plus Syndrome
Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Brachydactyly, Clinodactyly of t... ORPHA:709
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075

Histopathology

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

There is no histopathology data for Prrx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prrx1.

No publications found that use IMPC mice or data for Prrx1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Prrx1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prrx1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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