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Gene: Ihh MGI:96533

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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:
Indian hedgehog
Synonyms:
N/A

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 Ihh 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 predicted to be associated to Ihh by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh... OMIM:616849
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Eiken Syndrome
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal fingertip morphology, Limited elb... ORPHA:79106
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster... ORPHA:166016
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Acromesomelic Dysplasia 2A
Short tibia, Distal tibiofibular synostosis, Aplasia/Hypoplasia of the patella, Short foot, Dispr... OMIM:200700
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Radial head subluxation, Patellar dislocation, Short foot, Short metac... OMIM:614078
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Fibrochondrogenesis 1
Thin ribs, Small hand, Hypoplastic scapulae, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, Stillbirth, Thorac... OMIM:269250
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Narrow chest, Stillbirth, Flared metaphysis, Micromelia, Micrognathia, Ma... OMIM:215045
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Neonatal respiratory distress, Coarse metaphyseal trabecula... OMIM:618961
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Disproportionate short-limb short stature, Short toe, Ap... ORPHA:2098
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar... OMIM:118651
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Cardiorespiratory arrest, Micromelia, Absent vertebral body miner... ORPHA:93296
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:1803
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia... ORPHA:2634
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnor... ORPHA:1842
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Pectus carinatum, Delayed vertebral ossification, Flexion contracture, Long hal... OMIM:613330
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Bell-shaped thorax, Death in child... OMIM:613320
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, R... OMIM:201250
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn... ORPHA:2496
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... OMIM:164900
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Three M Syndrome 1
Postnatal growth retardation, Pes planus, Hip dislocation, Short 5th finger, Joint dislocation, D... OMIM:273750
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Hypoplastic scapulae, Neonatal respiratory distress, Flared metaphysis, Delayed ossif... OMIM:602471
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Acropectorovertebral Dysplasia
Toe syndactyly, Synostosis of carpal bones, Short thumb, Spina bifida occulta at L5, Finger synda... OMIM:102510
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micr... OMIM:201170
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... ORPHA:950
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Disproportionate short stature, Arthralgia... ORPHA:1856
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Lethal short-limbed... OMIM:187601
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Pectus carinatum, Wide nasal bridge, Depressed nasal bridge, Short finger, ... OMIM:313420
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Achondrogenesis, Type Ib
Hypoplastic ilia, Neonatal short-limb short stature, Narrow chest, Micromelia, Respiratory insuff... OMIM:600972
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Intr... ORPHA:1972
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Mietens-Weber Syndrome
Elbow flexion contracture, Narrow nose, Severe postnatal growth retardation, Pes planus, Dislocat... OMIM:249600
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Decreased skull ossification, Abn... ORPHA:1452
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Joint sti... ORPHA:1801
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... OMIM:186500
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormal enteric ganglion morphology, Enterocolitis OMIM:142623
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disproportionate short... ORPHA:85166
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipe... OMIM:206920
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Rhizomelic Chondrodysplasia Punctata, Type 5
Irregular capital femoral epiphysis, Metaphyseal irregularity, Metaphyseal cupping, Contractures ... OMIM:616716
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... ORPHA:2021
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Single t... OMIM:227270
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S... OMIM:619598
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Steel Syndrome
Wide nasal bridge, Carpal synostosis, Anteverted nares, Pes cavus, Limited elbow extension, Pes p... OMIM:615155
Ulna Hypoplasia-Intellectual Disability Syndrome
Severe short stature, Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow disloc... ORPHA:2249
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoi... OMIM:607326
Campomelic Dysplasia
Small abnormally formed scapulae, Depressed nasal bridge, Narrow chest, Tracheomalacia, Respirato... ORPHA:140
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-... OMIM:614524
3M Syndrome
Thin ribs, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation, Bulbous nos... ORPHA:2616
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint hypermobility,... OMIM:618395
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Micrognathia, Talipes, Pes planus, Dislocated radi... OMIM:210600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Neonatal short-limb short stature, Joint contracture of the hand, Narrow ch... OMIM:224400
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr... ORPHA:3121
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Postnatal growth retardation, Micrognathia, Talipes equinovar... OMIM:618150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter... OMIM:616897
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Neonatal respiratory distress, ... OMIM:187600
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, Short foo... OMIM:166250
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Disproportiona... OMIM:222765
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... OMIM:612447
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu v... ORPHA:56304
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e... ORPHA:93394
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Intrauterine growth retardation, Cryptorchidism, Congenital ... ORPHA:2470
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Mietens Syndrome
Severe short stature, Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the... ORPHA:2557
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Broad long bones, Short tubular bon... OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hypoplastic ilia, Narrow chest, Wide nasal bridge, Limitation of joint mobi... ORPHA:1865
Prieto Syndrome
Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of ribs, Prominent nose, Talipes... OMIM:309610
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Langer Mesomelic Dysplasia
Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Disproportionate ... ORPHA:2632
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Respiratory insufficiency, Ho... OMIM:616300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Disproport... OMIM:609441
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger ORPHA:1471
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal uln... OMIM:277150
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Disproportionate short-limb sh... ORPHA:174
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Dea... OMIM:241800
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short nose, Microgna... ORPHA:93328
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Postnatal growth retardation, Short first metatarsal, Epiphyseal stippling,... OMIM:619135
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Bowing of the long b... ORPHA:50945
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio... OMIM:251230
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Spondylometaphyseal Dysplasia, Type A4
Severe short stature, Pectus carinatum, Disproportionate short-limb short stature, Irregular pate... OMIM:609052
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Respiratory insuff... OMIM:208500
Seckel Syndrome 4
Severe short stature, Retrognathia, Underdeveloped nasal alae, Intrauterine growth retardation, S... OMIM:613676
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Malar flattening, Tal... ORPHA:52056
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Depressed nasal bridge, Micromelia, Thoracic hypoplasia, Lateral ... OMIM:617895
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M... OMIM:602557
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:3250
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Synostoses, Tarsal, Carpal, And Digital
Underdeveloped nasal alae, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synosto... OMIM:186400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Achondroplasia
Radial bowing, Genu varum, Thoracic hypoplasia, Femoral bowing, Limited elbow extension, Ulnar bo... OMIM:100800
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, ... OMIM:618393
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cup... OMIM:300863
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminen... OMIM:268305
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Disproportionate short-limb sh... OMIM:241500
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Delayed skeletal maturation, Hypoplasia of the capital femoral epiphysis, Hand muscle atrophy, An... OMIM:600561
Syngnathia
Cleft palate OMIM:119550
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bo... OMIM:601559
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal synostosis, Respira... OMIM:615349
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Craniodiaphyseal Dysplasia
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Diaphyseal undertubulation,... ORPHA:1513
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... OMIM:614091
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Depressed nasal bridge, Narrow chest, Natal tooth, Short tibia, Preaxial polydactyly, Micrognathi... OMIM:617925
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Camptodactyly of finger, Carpal s... OMIM:148820
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Metaphyseal cupping, Choanal atresia, Pathologic fracture, Micr... OMIM:156400
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Mueller-Weiss Syndrome
Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of ... ORPHA:566943
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:3144
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, Broad long bone... ORPHA:2347
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den... ORPHA:2370
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Enamel hypoplasia, Hypoplasi... OMIM:212780
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Intestinal polyposis... ORPHA:388
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Depressed nasal bridge, Radial deviation of the hand, Short tibia, Shor... ORPHA:2756
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... ORPHA:93308
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Disproportionate short-limb short stature, Thoracic hypoplasia, Limited elbow extension, Limb und... ORPHA:156728
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
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
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Short nose, Antever... ORPHA:93329
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization,... ORPHA:2635
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatars... OMIM:605282
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Mandibular prognathia, Depressed nasal bridge, Cran... OMIM:122860
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Shor... OMIM:620076
Odontochondrodysplasia
Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, D... ORPHA:166272
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... OMIM:617866
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Bone pain,... OMIM:600081
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... OMIM:259780
Distal Symphalangism
Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C... ORPHA:3248
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Kinsship Syndrome
Mesomelia, Osteopenia, Cervical ribs, Bulbous nose, Micrognathia, Single transverse palmar crease... OMIM:619297
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Humeroradial synostosis, Arachn... ORPHA:95699
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Short stature, Syndactyly OMIM:300484
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... ORPHA:1423
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Malar flattening, Tarsal syno... ORPHA:53271
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... OMIM:615630
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose OMIM:300577
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Ellis-Van Creveld Syndrome
Pectus carinatum, Neonatal short-limb short stature, Postaxial foot polydactyly, Disproportionate... OMIM:225500
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hypoplasia of the ulna, Wide nose ORPHA:357175
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Retrognathia, Micrognathia, Single transverse palmar crease, Neonatal death, Tali... OMIM:611890
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar flattening, Delayed puberty, Cl... ORPHA:217340
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal... OMIM:102370
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Micromelia, Abnormal rib morp... ORPHA:93298
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate OMIM:304100
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Short distal phalanx of finger, Clinodactyly ... OMIM:311895
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... ORPHA:710
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hypoplasia of the ulna, Wide nose OMIM:615162
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Jejunal Atresia
Jejunal atresia OMIM:243600
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe... OMIM:300373
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Cooper-Jabs Syndrome
Camptodactyly of finger, Respiratory insufficiency, Abnormal hip bone morphology, Anteverted nare... ORPHA:1488
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Rickets, Bulging of the costochon... OMIM:277440
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor... OMIM:252600
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Long thorax, Brachydactyly, Convex nasal ridge, Mesom... ORPHA:1277
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Greenberg Dysplasia
Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Decreased ... ORPHA:1426
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Micromelia, Abnormal enchondral ossification, Short nose, Ant... ORPHA:93299
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of ... ORPHA:63442
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Secondary Short Bowel Syndrome
Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo... ORPHA:95427
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Wide nasal bridge, Metaphyseal spurs, Depress... OMIM:618188
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory insufficiency... ORPHA:1145
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Tho... OMIM:166210
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Popliteal pterygium, Long nasal bridge, Carpal synostosis, Elbow flexion contra... OMIM:178110
Cranioectodermal Dysplasia 1
Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Short toe, F... OMIM:218330
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum OMIM:618155
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Narrow chest, Depressed nasal bridge, Hemiatrophy of upper limb, Short nose, Thor... ORPHA:163649
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Talipes equinova... OMIM:309350
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... OMIM:252500
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Brachydactyly, Sho... ORPHA:221054
Diastrophic Dysplasia
Neonatal short-limb short stature, Ulnar deviation of finger, Disproportionate short-limb short s... OMIM:222600
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Short toe, Respiratory... OMIM:269860
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Achondroplasia
Flat acetabular roof, Disproportionate short stature, Thoracic hypoplasia, Limited elbow extensio... ORPHA:15
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie... OMIM:135100
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Delayed skeletal maturation, Intrauterine growth retardation, 11 pairs of ri... OMIM:617604
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... OMIM:187760
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Rickets, Bulging of the costochondral junction, ... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Bone pain,... OMIM:241530
W Syndrome
Depressed nasal bridge, Broad nasal tip, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavu... ORPHA:2804
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Respiratory insufficiency, Anteverted nares, Micrognathia, Bilateral ... ORPHA:3191
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Depressed nasal... OMIM:600373
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Synostosis of carpal bones, Moderate postnatal growth retardation, Finger s... ORPHA:1005
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Hypoplasia of the maxilla, Slender long bone, Patellar hypoplasi... OMIM:613803
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short toe, Sandal gap, Delayed skeletal maturation, Short 5th metacarpal, 11 pairs of... OMIM:617877
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Abnormal nasophary... OMIM:607323
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Short stature ORPHA:79107
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,... ORPHA:896
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle mor... ORPHA:93267
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Barrel-shaped chest, Short humerus, Bowing... OMIM:239000
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... ORPHA:2839
L1 Syndrome
Aganglionic megacolon, Skeletal muscle atrophy ORPHA:275543
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Red... OMIM:617974
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dyspl... OMIM:615503
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction ORPHA:897
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th... OMIM:609616
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Prominent nasal bridge, Hypoplasia of the radius, Brac... ORPHA:96097
Ivic Syndrome
Severe short stature, Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand p... ORPHA:2307
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga OMIM:132450
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Hypochondroplasia
Depressed nasal bridge, Disproportionate short-limb short stature, Flared metaphysis, Trident han... OMIM:146000
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula, Elbow flexion ... OMIM:200980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Aganglionic megacolon, Flexion contracture, Abnormal aut... OMIM:613870
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint morphology, Fibular bowing, Mi... ORPHA:1427
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Intrauterine growth retar... ORPHA:1323
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Elevated circulating alkaline phosphatase concentratio... OMIM:606893
Cardiospondylocarpofacial Syndrome
Severe short stature, Synostosis of carpal bones, Failure of eruption of permanent teeth, Brachyd... ORPHA:3238
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Narrow chest, Neonatal respiratory distress, Dispropor... OMIM:619479
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Disproportionate short stature, Joint stiffness, Joint hypermobility, Bow... ORPHA:40
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Depressed nasal ridge, Short il... ORPHA:3003
Opsismodysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morph... ORPHA:2746
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Sandal gap, Short tibia, Wide nose, Sho... OMIM:607143
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral segmentation and ... ORPHA:66637
Brachydactyly Type E
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br... ORPHA:93387
Chromosome 8Q22.1 Duplication Syndrome
Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint contracture of fing... OMIM:151200
Ullrich Congenital Muscular Dystrophy
Slender finger, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Micr... ORPHA:75840
Ruvalcaba Syndrome
Small hand, Narrow chest, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow exten... OMIM:180870
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Delayed skeletal maturation, Ant... OMIM:615398
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility ORPHA:2787
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Depressed nasal bridge, Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodi... ORPHA:397715
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar flattening, B... ORPHA:2145
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Ab... ORPHA:177
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Boomerang Dysplasia
Severe short stature, Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Fib... OMIM:112310
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c... OMIM:210710
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Ir... OMIM:608728
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat... ORPHA:2633
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Intrauterine growth retardation, Abnormality o... ORPHA:2319
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious te... OMIM:617102
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanelle, Broad ribs,... OMIM:304150
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Intrauterine growth retardat... ORPHA:1832
Brachyolmia Type 1, Hobaek Type
Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Increased u... OMIM:271530
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Intrauterine growth retardation, Anteverted nares,... OMIM:614613
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... OMIM:614900
Thoracopelvic Dysostosis
Short stature, Neonatal respiratory distress, Short ribs OMIM:187770
Ulbright-Hodes Syndrome
Thin ribs, Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradial synostosis, ... ORPHA:3404
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ge... OMIM:617719
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Aphalangy of the ... OMIM:218600
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Tented upper lip vermilion, Elevated circulating alkaline phosphatase concentra... OMIM:616025
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln... ORPHA:246
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Thin upper lip vermilion, Dental crowding, Elevated circulating alkalin... OMIM:618879
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,... ORPHA:457395
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Talipes, Aplasia/Hypoplasia of t... ORPHA:2378
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hand clenching, Overlapping fingers, Micrognathia, Multiple joint con... OMIM:618291
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Laron Syndrome
Severe short stature, Delayed skeletal maturation, Abnormal joint morphology, Delayed menarche, L... OMIM:262500
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Neonatal respiratory distress, Congenital contracture, Enlarged naris, Elbow f... OMIM:616266
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Death in infa... ORPHA:1354
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Thoracic hypoplasia, Delayed vertebral ossificatio... OMIM:608022
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Short stature... ORPHA:2204
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Choanal atresia, Short thumb, Abnormal foot morphology, Postnatal gro... OMIM:263750
Bresek Syndrome
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Aganglionic megacolon... ORPHA:85284
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Childho... ORPHA:429
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,... ORPHA:968
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Pes planus, Finger joint hyperm... OMIM:618870
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa ... ORPHA:168555
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Neonatal respiratory distress, Carious teeth, Thor... OMIM:117650
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Hallermann-Streiff Syndrome
Choanal atresia, Small hand, Rib exostoses, Natal tooth, Tracheomalacia, Underdeveloped nasal ala... ORPHA:2108
Phocomelia, Schinzel Type
Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i... ORPHA:2879
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Craniofacial hyperostosis, Delayed eruption of teet... ORPHA:2484
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Pectus carinatum, Toe syndactyly, Narrow chest, Short toe, Delaye... ORPHA:1327
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Achondrogenesis
Severe short stature, Narrow chest, Micromelia, Abnormal enchondral ossification, Anteverted nare... ORPHA:932
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Prominent nose, Supernumerary ribs, Patellar subluxation, Bila... ORPHA:2958
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,... OMIM:161200
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Retrognathia, Preaxial hand polydactyly, Fibular aplasia,... OMIM:165590
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Orofaciodigital Syndrome Ix
Bifid nasal tip, Toe syndactyly, Broad nasal tip, Short tibia, Hand polydactyly, Camptodactyly, S... OMIM:258865
Smith-Mccort Dysplasia 2
Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited elbow extension, Promin... OMIM:615222
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, Pes planus, Sl... ORPHA:221120
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of ... OMIM:608154
Autosomal Recessive Robinow Syndrome
Broad thumb, Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Elbow dislocation, Mi... ORPHA:1507
Thoracomelic Dysplasia
Bell-shaped thorax, Disproportionate short-limb short stature, Short ribs OMIM:273740
Hyperekplexia 4
Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, R... OMIM:618011
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Cone-shaped ep... OMIM:266920
Catel-Manzke Syndrome
Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Micro... OMIM:616145
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Depressed nasal ridge, Bifid femur, Carious teeth, Elbow dislocation, Abnormal... ORPHA:2769
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology... ORPHA:3098
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Cryptorchidism ORPHA:452
Nievergelt Syndrome
Mesomelic short stature, Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Radi... OMIM:163400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Intrauterine growth retardation ORPHA:1438
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... OMIM:185700
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-tru... ORPHA:239
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Reduced bone mineral density, Brachydactyly, Short stature, Short femoral neck,... OMIM:618392
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Palmar pits, Short distal phalanx of the thumb, Plantar pits, Abnormal sternum... OMIM:109400
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Disproportionate short-trunk short st... OMIM:184252
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Camptodactyly of finger, Talipes equinovarus, Pectus excavatum, Respir... OMIM:614399
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Disproportionate short-limb short stature, Tho... OMIM:618019
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Disproportionate short-limb short stature, Radial bowing, ... OMIM:602875
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Postnatal growth retardation, Hypoplastic iliac wing, Carpal bon... OMIM:611717
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Desbuquois Syndrome
Severe short stature, Genu recurvatum, Small hand, Patellar dislocation, Disproportionate short-l... ORPHA:1425
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Pectus carinatum, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognathia, Short c... ORPHA:171839
Alagille Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Intrauterine growth retardation, Cli... ORPHA:52
Feingold Syndrome Type 2
Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb ORPHA:391646
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia, Proportionate short stature, Osteoarthritis, Short thorax ORPHA:93283
Dysspondyloenchondromatosis
Joint dislocation, Lower limb asymmetry, Delayed skeletal maturation, Genu valgum, Metaphyseal en... ORPHA:85198
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Disproportionate ... OMIM:156550
Piebald Trait
Aganglionic megacolon OMIM:172800
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... OMIM:620663
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... OMIM:300554
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V... ORPHA:89936
Short Stature, Brussels Type
Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Calcification of cartilage, Sho... ORPHA:2867
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of ... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Flattened epiphy... OMIM:300232
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Broad... OMIM:245600
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Genu varum, Rickets,... ORPHA:289157
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Narrow chest, Limb undergrowth, Short stature, Abnormal metaphysis morphol... ORPHA:1861
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long b... OMIM:269300
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyse... OMIM:620269
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Short finger, Avascular ne... OMIM:190351
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Absent radius, S... OMIM:263650
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure... ORPHA:93324
Hypophosphatasia
Narrow chest, Respiratory insufficiency, Bowing of the long bones, Abnormal rib morphology, Short... ORPHA:436
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... ORPHA:3312
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Bowing of... OMIM:259440
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Carious teeth,... ORPHA:2909
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Narrow chest, Microretrognathia, Decreased calvarial ossification, Bowing... OMIM:616229
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Delayed skeletal maturation, Camptodactyly of finger, Intrauterine growth retardation, Micrognath... ORPHA:1495
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Anteverted nares, Short humerus, Brachydactyly, Short lower ... ORPHA:420794
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Long palm, Arachnodactyly, Missing ribs, Joint hypermobility,... ORPHA:2759
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Neonatal short-limb short stature, Abnormal pelvic girdle bone mo... ORPHA:289
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Pes planus, Radial h... OMIM:615777
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly o... OMIM:612350
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... ORPHA:79445
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Joint dislocation, Osteomalacia, Osteolysis, Abnormal hip b... ORPHA:93160
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Genu varum, Short nose, Osteopenia, Disproportionate short-limb short stature, Delay... OMIM:271510
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Delayed skeletal maturation, Bul... OMIM:617809
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Radioulnar synostosis, Aplasia/Hypop... OMIM:154400
Mucopolysaccharidosis Type 4
Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Joint dislocation, Abnormal rib m... ORPHA:582
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Abnormal... OMIM:269150
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Congenital Myopathy 14
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Respirato... OMIM:618414
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Pectus carinatum, Hypoplasia of the odontoid process, Disproportionate shor... OMIM:184250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Broad foot, Prominent nasal tip, Pes planus, Broad ph... ORPHA:439822
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Convex nasal ridge, Short stature, Pec... ORPHA:1695
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Aplasia/Hypoplasia of the thumb... ORPHA:1352
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterin... OMIM:244460
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Depressed nasal bridge, Narrow pelvis bone, Proximal femoral epiphysiolysis, Delayed ... OMIM:616723
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, D... OMIM:619751
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Delayed epiphyseal ossification, Disproportionate short stature, Fibular ov... ORPHA:93352
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly... OMIM:620073
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l... OMIM:259420
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Anosmia, Depressed nasal bridge, Epiphyseal stippling, Short nasa... OMIM:302950
Atelosteogenesis Type I
Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minimally ossified ve... ORPHA:1190
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Neonatal respiratory distress, Respiratory insufficiency, 11 pairs of ribs, Mi... OMIM:618356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Disproportionate short-limb short stature, Brachydac... OMIM:618618
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Fatco Syndrome
Finger syndactyly, Respiratory insufficiency, Abnormal tibia morphology, Absent hand, Split hand,... ORPHA:2492
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited knee flexion/extension, Respiratory insufficiency, Shoulder girdle muscle weakness, Limit... ORPHA:266
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Depressed nasal bridge, Delayed skeletal maturation, Postnatal ... OMIM:614732
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed... ORPHA:166011
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Respiratory insufficienc... ORPHA:1914
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Deep plantar creases, Malar f... OMIM:602342
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
ERI1-related disease
Micrognathia, Pes planus, Patellar dislocation, Finger joint hypermobility, Dislocated radial hea... OMIM:608739
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... OMIM:164280
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Respiratory insufficiency, Abnormal hip bone morphol... ORPHA:1597
Weiss-Kruszka Syndrome
Single transverse palmar crease, Prominent nasal tip, Clinodactyly of the 5th finger, Proximal pl... ORPHA:502430
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Postaxial hand polydactyly,... OMIM:181450
Haddad Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous system physiology ORPHA:99803
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red... ORPHA:1508
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion OMIM:607371
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Abnormal rib morphology, Intrauterine growth retardation... ORPHA:1797
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Micrognathia, Tibial bowing, Lower limb undergrow... ORPHA:3035
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Wide nasal bridge, Disproportionate short-limb short stature, Micromelia, T... OMIM:224410
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Thanatophoric Dysplasia
Abnormal ilium morphology, Narrow chest, Depressed nasal bridge, Disproportionate short-limb shor... ORPHA:2655
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure OMIM:610127
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Dysplasia Epiphysealis Hemimelica
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Rickets of the lower limbs, Tooth abscess, Genu varum, Polyarticular arthritis, Tib... ORPHA:289176
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Equin... ORPHA:319195
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, 11 pairs of ribs, Bicoronal synost... OMIM:619184
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Achalasia, Splenomegaly ORPHA:3386
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Developmental And Epileptic Encephalopathy 73
Delayed skeletal maturation, Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose OMIM:618379
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Thoracic hypoplasia, Retrognathia, Postnatal growth retardation, Intraute... ORPHA:254528
Neuropathy, Congenital Hypomyelinating, 3
Hand clenching, Retrognathia, Abnormal foot morphology, Respiratory insufficiency, Micrognathia, ... OMIM:618186
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Orofaciodigital Syndrome Vi
Toe syndactyly, Broad nasal tip, Clinodactyly, Radial deviation of finger, Preaxial hand polydact... OMIM:277170
Sheldon-Hall Syndrome
Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone... ORPHA:1147
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Recurrent upper respiratory tract infections, Delayed eruption of teeth, Rhizome... ORPHA:508542
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Anteverted nares, Micrognathia, Short nose ORPHA:2015
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... ORPHA:1529
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Micromelia, Retrognathia, Micrognathia, Hypoplasia ... ORPHA:3015
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narrow ... OMIM:602271
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ... OMIM:614814
Hall-Riggs Syndrome
Wide nasal bridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Delayed skeletal mat... ORPHA:2107
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Depressed nasal bridge, Rickets, Joint dislocation, Retrognathi... ORPHA:1901
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, Micrognathia, Decrease... ORPHA:3472
Familial Visceral Myopathy
Hyperparathyroidism, Abdominal situs inversus, Camptodactyly of finger, Aganglionic megacolon, Ap... ORPHA:2604
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Absent radius, Proximal placement of thumb OMIM:314390
Sandestig-Stefanova Syndrome
Wide nasal bridge, Clinodactyly, Retrognathia, Intrauterine growth retardation, Bilateral single ... OMIM:618804
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Depressed nasal bridge, Micromelia, Lethal short-limbed short sta... ORPHA:1860
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal... ORPHA:175
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Anteverted nares,... ORPHA:1703
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... OMIM:263520
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed skeletal maturation, Aplasia/Hypoplasia involv... ORPHA:163654
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed... ORPHA:83
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo... ORPHA:249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Mesomelia, Rhizomelia, Disproportionate short stature, Narrow chest, Depres... OMIM:616482
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Intrauterine growth retardation, Cryptorchidism, Flexion contrac... OMIM:147791
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Slender long bone, Anteverted nares, Joint hypermobility, Cubitus valgus, Short ... ORPHA:1185
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Ulna Metaphyseal Dysplasia Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the radius, Delayed skeletal maturation, Abnormal hi... ORPHA:1837
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Short stature, Spina bifida occulta, Short ... ORPHA:1514
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Delayed skeletal maturation, Preax... OMIM:617927
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Barrel-shaped chest... OMIM:612813
Rhombencephalosynapsis
Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Septo-optic d... ORPHA:59315
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Delayed skeletal maturation, S... OMIM:602111
Pentasomy X
Wide nasal bridge, Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Dela... ORPHA:11
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Postnatal growth retardation, ... OMIM:619489
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Small hand, Clinodactyly, Brachydactyly, Short phalanx of finger, Broad finger OMIM:614684
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Broad foot, Broad phalanx, Metaphyseal dysplasia, Broad tibial metaphyses,... ORPHA:2502
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Ulnar de... OMIM:618577
Hypophosphatasia, Childhood
Rachitic rosary, Carious teeth, Short stature, Craniosynostosis, Bowing of the legs OMIM:241510
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ... ORPHA:93346
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Sillence Syndrome
Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ... ORPHA:3168
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... OMIM:300009
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Anteverted nares, M... ORPHA:1716
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Diarrhea 9
Villous atrophy OMIM:618168
Seckel Syndrome 5
Retrognathia, Delayed skeletal maturation, 11 pairs of ribs, Micrognathia, Prominent nasal bridge... OMIM:613823
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Respiratory insufficiency, Bell-shaped thorax, Horizontal ribs,... OMIM:615633
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Pheochromocytoma, Aganglionic megacolon, Parathy... OMIM:171400
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Intrauterine growth retardation, Micrognathia, Ant... OMIM:613604
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph... ORPHA:2636
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Long nose... ORPHA:221016
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus ORPHA:52503
Congenital Muscular Dystrophy With Intellectual Disability
Hip dislocation, Respiratory insufficiency, Multiple joint contractures, Calf muscle hypertrophy,... ORPHA:370968
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short thorax, Spina bifida occulta, Reduced bone mineral density, Short nose ORPHA:2983
Opsismodysplasia
Hypoplasia of the odontoid process, Bell-shaped thorax, Anterior rib cupping, Flat acetabular roo... OMIM:258480
Aarskog-Scott Syndrome
Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Pes planus, Short foot, Short nose,... OMIM:305400
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing... ORPHA:93356
Jackson-Weiss Syndrome
Coronal craniosynostosis, Broad hallux, Short first metatarsal, Malar flattening, 2-3 toe syndact... OMIM:123150
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth... ORPHA:94068
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Spondylometaphyseal Dysplasia, Algerian Type
Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo... OMIM:184253
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Re... ORPHA:245
Cardiospondylocarpofacial Syndrome
Wide nasal bridge, Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion ... OMIM:157800
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas, Knee flexion contracture, Elbow contracture OMIM:618162
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Malar flat... OMIM:603116
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Congenital hypertrophy of... ORPHA:96149
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Respiratory insufficiency, Joint stif... ORPHA:1895
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level, Micrognathia, Narrow mouth, Open mouth, Microdontia, D... OMIM:619356
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Intrauterine growth re... OMIM:616975
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Shprintzen-Goldberg Syndrome
Pectus carinatum, Narrow chest, Osteopenia, Hypoplasia of the maxilla, Elbow dislocation, Retrogn... ORPHA:2462
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Pectus carinatum, Hypoplasia of the odontoid process, Carious teeth, Recu... OMIM:253000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Depressed nasal bridge, Aplasia/Hypoplasia of the capital femoral epiphysis... OMIM:215150
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of... OMIM:114300
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Joint hypermobility, Hip dysplasia, Clinodactyly of the 5th finge... OMIM:617991
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ... OMIM:300717
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose ORPHA:261120
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Micrognathia, Broad first metatarsal, Cone-shaped ep... ORPHA:2751
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Radi... OMIM:610915
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Anteverted nares, Genu valgum, Joint hypermobility, Arachnodactyly, Conve... ORPHA:1035
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency OMIM:616081
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Delayed skeletal maturation, Intrauterine gr... ORPHA:2643
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Jacobsen Syndrome
Annular pancreas, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Ectopi... ORPHA:2308
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia,... ORPHA:2059
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Micromelia, Anteverted ... OMIM:610015
Duodenal Atresia
Duodenal atresia OMIM:223400
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Small then... OMIM:613390
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Narrow chest, Clinodactyly, Retrognathia, ... OMIM:613610
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Short stature, ... OMIM:105835
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Retrognathia, Delay... ORPHA:488434
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Pheochromocytoma, Myopathy, Aganglionic megacolon, Nodu... OMIM:162300
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co... OMIM:619334
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... OMIM:265380
Radial Ray Hypoplasia With Choanal Atresia
Choanal atresia, Depressed nasal bridge, Short thumb, Distally placed thumb, Choanal stenosis, Hy... OMIM:179270
Congenital Insensitivity To Pain With Severe Intellectual Disability
Talipes equinovalgus, Osteomyelitis, Prominent nose, Micrognathia, Tibial bowing, Congenital bila... ORPHA:453510
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Hand clenching, Depressed nasal bridge, Retrognathia, Elbow flexion contracture,... OMIM:617301
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... OMIM:119800
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ... ORPHA:3138
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Talipes equinovarus... OMIM:193700
Small Bowel Atresia
Intestinal malrotation, Intrauterine growth retardation, Intestinal hypoplasia, Jejunal atresia ORPHA:1201
Braddock Syndrome
Neonatal respiratory distress, Preaxial hand polydactyly, Intrauterine growth retardation, Microg... ORPHA:52047
Renpenning Syndrome
Severe short stature, Mandibular prognathia, Broad columella, Joint stiffness, Prominent nose, Ab... ORPHA:3242
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Depressed nasal bridge, Shortening of all middle phalanges of the fingers, ... OMIM:226980
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epig... OMIM:617088
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Intrauterine growth retardation, Hip contracture, Knee flexion c... ORPHA:488642
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Congenital contracture, Intrauterine growth reta... ORPHA:97297
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Dispropor... OMIM:253010
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal amyotrophy, Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Portal hyperte... OMIM:609136
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Rec... OMIM:610682
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Aplasia of t... ORPHA:93357
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation, Decreased... ORPHA:2772
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Retrognathia, Intrauterine gr... OMIM:615583
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Multiple joint contrac... ORPHA:264450
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Delayed skeletal maturation, Prominent nasal bridge... ORPHA:2220
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Bone pain, Hypophosphatemic rickets, Reduced ... ORPHA:157215
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, P... ORPHA:198
Anauxetic Dysplasia 1
Severe short stature, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, E... OMIM:607095
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retarda... OMIM:243150
Peho-Like Syndrome
Retrognathia, Short nose, Tapered finger OMIM:617507
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Single transverse palmar crease, Wormian bones, 2-5... OMIM:601224
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Distal upper limb amy... OMIM:606071
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Narrow chest, Limitation of joint mobility, Micromelia, Respiratory insuf... ORPHA:93274
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Tracheomalacia, Hypoplasia of proximal radius, Anteverted nares, Micrognathia, Fibula... ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
Waardenburg Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia... ORPHA:3440
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Micromelia, Nonopposable triphalangeal thumb, Mandibular prognathia, Hypoplasia of the radius ORPHA:2252
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone... ORPHA:1422
Three M Syndrome 2
Severe short stature, Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Clinoda... OMIM:612921
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g... OMIM:618529
Panner Disease
Limited elbow extension, Abnormality of upper limb joint, Joint swelling, Limited elbow movement,... ORPHA:97336
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Narrow chest, Disproportionate short-limb short stature, Abnormal pelvis ... ORPHA:93271
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Anal atresia, Anal stenosis, Cleft palate OMIM:614749
Acrofacial Dysostosis, Catania Type
Small hand, Microretrognathia, Carious teeth, Finger syndactyly, Delayed skeletal maturation, Hyp... ORPHA:1786
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Coxa valga OMIM:601370
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Brach... OMIM:618265
Vacterl Association With Hydrocephalus
Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respiratory failure OMIM:276950
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Joint hypermobili... ORPHA:2475
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Postnatal growth retardation, Micrognathi... OMIM:268300
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Neonatal death, Bowin... OMIM:259775
Cardioacrofacial Dysplasia 2
Narrow chest, Postaxial foot polydactyly, Genu valgum, Long thorax, Prominent nasal tip, Limb und... OMIM:619143
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Delayed skeletal maturation, Anteverted nares, Brachydactyly, Short stature, Pectu... ORPHA:2701
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micrognathia, Conve... ORPHA:2522
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Intrauterine growth retardation, Micrognathia, Anteverted nares, Pr... ORPHA:391408
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi... ORPHA:2050
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Short femoral neck, Flared metaphysis, Broad ribs, ... ORPHA:370930
Arthrogryposis Multiplex Congenita 5
Hand clenching, Micrognathia, Talipes equinovarus, Hip dislocation, Flexion contracture, Prominen... OMIM:618947
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Retrognathia, Anteverted nares, Increased susceptibility to f... ORPHA:561
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Tall stature, Clinodactyly of the 5th finger, Short nose, Wide nose ORPHA:217385
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Broad nasal tip, Narro... OMIM:305600
Distal Deletion 10Q
Clinodactyly, Postnatal growth retardation, Micrognathia, Pes planus, Hip dislocation, Short nose... ORPHA:96148
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Bulbous... ORPHA:2180
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Neonatal respiratory distress, Respiratory failure, Split hand ORPHA:168486
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Genu valgum, Long thorax, Postaxial polydactyly, Limb undergrowth, Ove... OMIM:619142
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxill... OMIM:108721
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Disproportionate short stature, Cone-shaped epiphysis, Abnormal scapula morphology,... ORPHA:93317
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Supernumerary ribs, Missing ribs, Disproportionate short-... OMIM:122600
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal... OMIM:216340
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Prominent nasal bridge, Limited elbow extension and supination, J... ORPHA:401935
Steinfeld Syndrome
Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ... OMIM:184705
Orofaciodigital Syndrome V
Bifid uvula, Optic disc coloboma, Hamartoma of tongue, Ankyloglossia, Aganglionic megacolon, Bifi... OMIM:174300
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Cryptorchidism, Annular pancreas OMIM:227646
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Thoraco-Abdominal Enteric Duplication
Missing ribs, Respiratory insufficiency, Camptodactyly of finger ORPHA:1759
Marshall Syndrome
Radial bowing, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Small proximal tibial e... OMIM:154780
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Barrel-shaped chest, Joint hypermobility, Absent nasal bridge, Brachydac... ORPHA:171866
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Hyperextensibility at elbow, Clinodactyly, Delayed skeletal matura... ORPHA:319182
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Dental malocclusion, Clinoda... OMIM:616331
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Micrognathia, Death in early adulthood, Hypoplasia of teeth, Shor... OMIM:608612
Piebaldism
Aganglionic megacolon ORPHA:2884
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Pes planus, Broad phalanx, Hip dislocation, Fused cer... ORPHA:508498
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Talipes equinovarus, Large hands, Genu varum,... OMIM:264090
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Wide nasal bridge, Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the lo... OMIM:617952
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Abnormal rectum morphology, Anteriorly placed anus, Cleft palate OMIM:239300
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology... ORPHA:90653
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Pes planus, Hip d... ORPHA:84
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi... OMIM:151050
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... ORPHA:2519
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of th... ORPHA:1307
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Postnatal growth retardation, Abnor... ORPHA:7
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Micrognathia, Prominent nasal bridge, Pes cavus, Single transverse palmar crease... OMIM:613544
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Micrognathia, Bowing ... ORPHA:536471
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm... ORPHA:93316
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Phaver Syndrome
Depressed nasal bridge, Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of fin... ORPHA:2876
Ear-Patella-Short Stature Syndrome
Severe short stature, Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology... ORPHA:2554
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Postnatal growth retardation, Dysplasia of the femoral head, Micrognathia, Arachno... ORPHA:536467
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Carious teeth, Delayed eruption of teeth, Patell... ORPHA:221008
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Talipes equino... OMIM:611209
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal matur... ORPHA:3068
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Depressed nasal bridge, Narrow chest, Rhizomelia, 11 pairs of ribs, Talipes, Short stature OMIM:617661
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Short stature,... OMIM:216100
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Flexion contr... ORPHA:171430
Familial Expansile Osteolysis
Fragile teeth, Elevated circulating alkaline phosphatase concentration, Premature loss of teeth OMIM:174810
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Clinodactyly of the 5th finger, Rocker bottom foot, Delayed eruption of permane... OMIM:618506
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Narrow chest, Neonatal respiratory distress, Clinodactyly, Tracheomalacia... OMIM:217980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Small hypothenar emine... ORPHA:2463
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Noonan Syndrome 12
Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb OMIM:618624
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
1P36 Deletion Syndrome
Optic atrophy, Gastroesophageal reflux, Annular pancreas, Camptodactyly of finger, Abnormality of... ORPHA:1606
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Micrognathia, Decreased skull ossification, Narrow great... OMIM:263210
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Mis... ORPHA:3301
Rothmund-Thomson Syndrome, Type 2
High palate, Annular pancreas, Cryptorchidism, Anteriorly placed anus OMIM:268400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl... ORPHA:3186
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Hypoplasia o... OMIM:139210
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Clinodactyly of the 5th finge... OMIM:619736
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffn... ORPHA:2176
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Abnormality of the pancreas ORPHA:935
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Genu ... ORPHA:1295
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi... ORPHA:3429
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Birth length greater than 97th percentile, Tall stature, Broad foot, Talipes equinov... OMIM:312870
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Recurrent upper respiratory tract infections, Camptodactyl... OMIM:256040
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Talonavicular Coalition
Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge... OMIM:186750
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Anteverted nares, Pes cavus, Flexion contracture, Respiratory failure, Tapered finger OMIM:616505
Osteogenesis Imperfecta, Type Xxi
Disproportionate short-limb short stature, Bowing of the arm, Bell-shaped thorax, Barrel-shaped c... OMIM:619131
Geleophysic Dysplasia 1
Wide nasal bridge, Irregular capital femoral epiphysis, Joint contracture of the hand, Cone-shape... OMIM:231050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Talipes equinovarus, Short long bone, Short thorax, Vertebral fusion OMIM:618845
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Camptodactyly of finger, Intrauterine growth retardation, Death in infancy, Flexion... ORPHA:1194
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Resp... ORPHA:2311
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Deep pla... OMIM:616638
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Symphalangism affecting the ... ORPHA:2547
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Short toe, Postnatal growth retardation, Recurrent mandibular subluxations, Micrognat... OMIM:225410
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes ORPHA:2513
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Talipes equinovarus, Abnorma... ORPHA:251028
Image Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Micromelia, Metaphyseal dysplasia ORPHA:85173
Tarp Syndrome
Wide nasal bridge, Clinodactyly, Intrauterine growth retardation, Micrognathia, Anteverted nares,... OMIM:311900
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Arthrogryposis multiplex co... ORPHA:163746
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Duodenal ... OMIM:617784
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under... ORPHA:1234
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Bell-shaped thorax, Missing ribs, Rib fusion, Vertebral fusion, Short thorax, Sh... OMIM:613686
Schinzel-Giedion Syndrome
Annular pancreas, Anteriorly placed anus, Streak ovary, Aganglionic megacolon, Hepatoblastoma, Ca... ORPHA:798
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Clinodactyly, Promin... ORPHA:391372
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Missing ribs, Syndactyly OMIM:220210
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, Slender metacarp... OMIM:620601
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Ant... OMIM:145420
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Abnormal thorax morphology, Death in infancy, Bowing of the long bo... ORPHA:1318
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Anal stenosis, Cleft palate OMIM:614207
Osteogenesis Imperfecta, Type Xiii
Pectus carinatum, Dentinogenesis imperfecta, Wide distal femoral metaphysis, Increased bone miner... OMIM:614856
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Cranial hyperostosis, Micrognathia, Decreased osteoclast count, Osteopetrosis,... OMIM:259720
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Mic... OMIM:608149
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Pectus carinatum, Anteverted nares, Single transverse palmar crease, Enamel ag... OMIM:614701
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge, Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodac... ORPHA:2774
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Depressed nasal bridge, Micromelia, Preaxial polydactyly, Short ... OMIM:616546
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Aganglionic megacolon, Bifid tongue ORPHA:2919
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Tetrasomy 9P
Small hand, Hypoplastic scapulae, Joint dislocation, Abnormal dental enamel morphology, Bulbous n... ORPHA:3310
Sclerosteosis 1
Wide nasal bridge, Broad clavicles, Abnormal pelvic girdle bone morphology, Depressed nasal bridg... OMIM:269500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Gastroesophageal reflux, Volvulus, Cryptorchidism, Aganglionic megacolon, Macroglo... ORPHA:847
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia o... ORPHA:90154
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia, Polysplenia OMIM:619608
Nemaline Myopathy 8
Flexion contracture, Respiratory failure, Death in infancy OMIM:615348
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared ili... OMIM:112350
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of... ORPHA:1657
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate ORPHA:220497
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal foot morphology, Anteverted nares, Micrognath... OMIM:249620
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Pectus carinatum, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Jo... OMIM:615419
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Clinodactyly, Delayed skeletal maturation, Respiratory insufficiency, Bulbous ... ORPHA:488632
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Bcard Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of th... OMIM:612394
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Retrognathia, Intrauterine growth retardation, Limb undergrowth, J... OMIM:618005
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Intermediate Nemaline Myopathy
Abnormal thorax morphology, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mult... ORPHA:171433
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Broad nas... ORPHA:1784
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Peroxisome Biogenesis Disorder 4A (Zellweger)
Depressed nasal bridge, Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Auriculoosteodysplasia
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Elbow dislocation, Abnormality of... ORPHA:114
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Anteriorly placed anus, Supernumerary nipple, Aganglionic megacolon, High palate ORPHA:247262
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Colonic Atresia
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty... ORPHA:93259
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Postnatal ... OMIM:608940
Robinow Syndrome
Flared nostrils, Micrognathia, Marked delay in eruption of permanent teeth, Mesomelic arm shorten... ORPHA:97360
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Thoracolumbar kyphosis, Depressed nasal bridge, Disproportionate short stat... OMIM:617425
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Tali... ORPHA:1647
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... ORPHA:3078
Char Syndrome
Depressed nasal ridge, Depressed nasal bridge, Toe syndactyly, Mesoaxial foot polydactyly, Mesoax... ORPHA:46627
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Growth delay, Short nose ORPHA:531
Holzgreve Syndrome
Intrauterine growth retardation, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, ... ORPHA:2167
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs, Tooth abscess, Growth delay, Bone pain ORPHA:89937
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Pectus carinatum, Depressed nasal bridge, Retrognathia, Short nose, Anteverted... ORPHA:363659
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Low hanging columella, Short ... OMIM:617752
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia... ORPHA:2083
Pallister-Hall Syndrome
Postaxial foot polydactyly, Toe syndactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... OMIM:146510
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Aplasia ... OMIM:229850
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi... OMIM:182212
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:329475
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ileus OMIM:300352
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Microretrognathia, Camptodactyly of finger, Bulbous nose, Intrauterine growth ret... ORPHA:261211
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... ORPHA:93315
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... ORPHA:77258
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Wrist flexion cont... OMIM:609465
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture... ORPHA:800
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Short nose OMIM:616910
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Overgrowth, Advanced eruption of teeth, Accelerated ... OMIM:614753
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:312150
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Slender finger, Pes planus, Short stature, Growth delay, Respiratory failure OMIM:250940
Mckusick-Kaufman Syndrome
Cryptorchidism, Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate ORPHA:2473
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline... OMIM:615716
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Congenital contracture, Micrognathia, Death in infancy, Short nose OMIM:615042
Joubert Syndrome
Aganglionic megacolon ORPHA:475
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Microretrognathia, Coronal craniosynostosis, ... OMIM:616294
Harel-Yoon Syndrome
Pectus carinatum, Talipes equinovalgus, Micrognathia, Hip dysplasia, Mandibular prognathia, Short... OMIM:617183
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Down... OMIM:227330
Cree Impaired Intellectual Development Syndrome
Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rock... OMIM:606851
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Clinodactyly, Abnorm... ORPHA:369891
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Delayed skeletal maturation, Wrist hypermobility, Narrow nasal bridge, Joint hypermobility, Hip d... ORPHA:544503
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate ORPHA:220493
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Ulnar deviation of finger, Finger syndactyly, Abnormal mandible morphology,... ORPHA:2215
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Ad... OMIM:615539
Fanconi Renotubular Syndrome 3
Short stature, Growth delay, Rickets, Bowing of the legs OMIM:615605
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Polydactyly, Flexion contracture, Growth delay, Short femur ORPHA:17
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Mosaic Trisomy 8
Narrow chest, Broad nasal tip, Narrow pelvis bone, Limitation of joint mobility, Deep plantar cre... ORPHA:96061
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia OMIM:250250
Microlissencephaly-Micromelia Syndrome
Micromelia, 11 pairs of ribs, Bilateral single transverse palmar creases, Adducted thumb, Short nose ORPHA:50810
Even-Plus Syndrome
Severe short stature, Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of ... OMIM:616854
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Pectus carinatum, Broad columella, Delayed skeletal maturation, Delayed crania... OMIM:619383
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short nose, Intrauterine growth retardation, Micrognathia, Pes cavus, Ace... OMIM:619833
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Aganglionic megacolon, C... ORPHA:870
Tetrasomy 5P
Wide nasal bridge, Postnatal growth retardation, Overlapping toe, Micrognathia, Anteverted nares,... ORPHA:3309
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620375
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Retrognathia, Bulbous nose, Intrauterine growth retar... ORPHA:485405
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Micrognathia, Abnormality of the knee, Missing ribs, Abno... ORPHA:1834
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Talipes equinovaru... OMIM:130070
Congenital Tufting Enteropathy
Cholestatic liver disease, Optic disc coloboma, Abnormal large intestinal mucosa morphology, Vill... ORPHA:92050
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
49,Xyyyy Syndrome
Short 5th finger, Recurrent upper respiratory tract infections, Lower limb asymmetry, Finger clin... ORPHA:99330
Rhyns Syndrome
Osteopenia, Radial bowing, Delayed skeletal maturation, Brachydactyly, Short long bone, Short sta... OMIM:602152
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull o... ORPHA:666
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:253290
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Broad toe, Disl... OMIM:180700
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Microretrognathia, Short nose, Postaxial hand polydactyly ORPHA:1389
Cantú Syndrome
Wide nasal bridge, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Delayed skele... ORPHA:1517
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Slender build, Synovitis, Hypoplastic ilia, Osteopenia, Wide nasal ridge, Long finge... ORPHA:3455
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Choanal atresia, Narrow pelv... OMIM:207410
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in childhood, Death in infancy, Multiple rib fractures... OMIM:612301
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Abnormal rib morphology, Hip dysplasia ORPHA:195
Alg6-Cdg
Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice ORPHA:79320
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Wide nasal bridge, Tapered toe, Shoulder flexion contracture, Slender long bone, Thora... OMIM:620369
Hypophosphatasia, Adult
Low alkaline phosphatase, Carious teeth, Premature loss of primary teeth, Premature loss of perma... OMIM:146300
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equinovarus, Prom... OMIM:249420
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Flexion contractu... OMIM:218000
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Thick nasal alae, Broad ribs,... ORPHA:583
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Abnormality of alkaline phosphatase level OMIM:618010
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo... OMIM:616507
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Short nose, Joint hypermobility OMIM:616459
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Short toe, Patellar hypoplasia, Bulbous nose, Thoracic kyphosis, Pes cavus, Flex... ORPHA:3041
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Depressed nasal bridge, Short femoral neck, Flared metaphysis, Irregular epiphyses, Bulbous nose,... OMIM:610442
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Sandal gap, Short thorax, Retrognathia, Postnatal growth retardation, Shor... OMIM:156200
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Retrognathia, Bulbous nose, Micrognathia, ... OMIM:617061
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Bulbous nose, Anteverted nares, Single transverse palmar crease, Neonatal deat... OMIM:236500
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Patellar hypoplasia, Preaxial h... OMIM:603671
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Brachydactyly, Fused cervical vertebrae ORPHA:1436
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Distal upper limb muscle weakness, Absent patellar reflexes, Elbow... ORPHA:70
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Bilia... OMIM:209900
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Joint stiffness, Micrognathia, Antever... ORPHA:819
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Pectus carinatum, Arthrogryposis multiplex congenita, Fractures of th... ORPHA:496641
Microcephalic Primordial Dwarfism, Dauber Type
Delayed skeletal maturation, Prominent nose, Madelung deformity, Severe postnatal growth retardat... ORPHA:319675
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure, Shoulder girdle muscle weakness OMIM:604801
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Tapered finger, Short humerus, Short femur OMIM:618367
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Intrauterine growth retardation, Talipes equinovarus, Ventilator depende... OMIM:604320
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Anteverted nares, Prominent nasal bridge, Short stature, Short nose OMIM:300558
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Decreased skull ossification, ... OMIM:602361
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, Intrauterine growth retardation, Arthrogryposis multiple... OMIM:615330
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Abnormality of the autonomic nervous system, Me... OMIM:611376
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Ineffective esophageal peristalsis, Abnormal autonomic nervous system phys... OMIM:209880
Humero-Radial Synostosis
Limitation of joint mobility, Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of ... ORPHA:3265
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Res... ORPHA:1120
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Neonatal respiratory distress, Intrauterine growth retardation, Growth dela... OMIM:619057
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Clinodactyly, Delayed skeletal maturation, Bulbous nose, Intr... OMIM:614114
Seckel Syndrome 7
Severe short stature, Delayed skeletal maturation, Intrauterine growth retardation, Prominent nos... OMIM:614851
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Depressed nasal bridge, Clinodactyly, Delayed eruption of teeth, ... OMIM:615866
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Tall stature, Death in childhood, Prominence of the premaxill... OMIM:602535
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... ORPHA:1652
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Non-Distal Duplication 13Q
Narrow chest, Micrognathia, Arachnodactyly, Postaxial hand polydactyly, Short nose ORPHA:1702
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula, Cryptorchidism OMIM:236700
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib mor... ORPHA:2345
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Camptodactyly of finger, M... ORPHA:1794
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Micrognathia, ... ORPHA:1225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, A... OMIM:606612
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Epistaxis, Epiphyseal stippling, Joint hemorrhage, Short nose OMIM:277450
Arterial Tortuosity Syndrome
Rocker bottom foot, Cardiorespiratory arrest, Short nose, Avascular necrosis of the capital femor... ORPHA:3342
Lowry-Maclean Syndrome
Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Choanal atresia, Retrognathi... ORPHA:2409
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... OMIM:613443
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Mandibular prognathia, Broad thumb, Broad hallux, Overlapping toe, Microg... ORPHA:435638
Desmosterolosis
Severe short stature, Depressed nasal bridge, Micromelia, Retrognathia, Abnormality of the nose, ... ORPHA:35107
Ramos-Arroyo Syndrome
Aganglionic megacolon, Xerostomia, Smooth tongue, Abnormal autonomic nervous system physiology ORPHA:1051
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocele testis OMIM:613603
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, ... ORPHA:238750
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Short sta... OMIM:614261
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Mesomelic short stature, Intrauterin... ORPHA:1765
Perlman Syndrome
Wide nasal bridge, Retrognathia, Tall stature, Anteverted nares, Micrognathia, Bilateral single t... ORPHA:2849
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Sandal gap, Narrow nose, Intrauterine growth retardation, Joint hypermobility, Ara... OMIM:617602
Martsolf Syndrome 1
Broad femoral neck, Short toe, Slender ulna, Tracheomalacia, Avascular necrosis of the capital fe... OMIM:212720
Cornelia De Lange Syndrome 1
Micrognathia, Dislocated radial head, Choanal atresia, Delayed skeletal maturation, Limited elbow... OMIM:122470
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq... ORPHA:86822
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Choanal atresia, Joint contracture of the hand, Depressed nasal bridge, Carpal synostosis, Femora... OMIM:201750
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H... ORPHA:79319
Pfeiffer Syndrome Type 3
Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of joint ... ORPHA:93260
Meckel Syndrome, Type 8
Depressed nasal ridge, Narrow chest, Polydactyly, Talipes equinovarus, Short nose OMIM:613885
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Wide nasal bridge, Disproportionate short stature, Abnormal epiphysis morphology, Micromelia, Del... ORPHA:2637
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Hip dislocation, Short me... OMIM:150250
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Overlapping toe, Overlapping fingers, Prominent nose, ... OMIM:618316
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Neonatal respiratory distress, Nasal congestion, Elbow flexion contracture, Bulbous ... OMIM:608836
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... ORPHA:3206
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Gm1 Gangliosidosis
Depressed nasal ridge, Mandibular prognathia, Broad nasal tip, Coarse metaphyseal trabecularizati... ORPHA:354
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... ORPHA:79302
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Steatorrhea OMIM:602579
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal epiphysis morphology, Narrow pelvis bone, Abn... ORPHA:93473
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Pectus carinatum, Positional foot deformity, Micrognathia, Delayed puberty, Hip dysplasia, Mandib... ORPHA:496790
Floating-Harbor Syndrome
Broad thumb, Carious teeth, Broad fingertip, Dislocated radial head, Cone-shaped epiphyses of the... OMIM:136140
Tarsal-Carpal Coalition Syndrome
Short stature, Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Spondyloenchondrodysplasia
Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Dental malocclusion, Delayed ... ORPHA:1855
Immunodeficiency 95
Recurrent viral upper respiratory tract infections, Respiratory failure OMIM:619773
Alkuraya-Kucinskas Syndrome
Hand clenching, Depressed nasal bridge, Clinodactyly, Abnormal foot morphology, Overlapping toe, ... OMIM:617822
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,... OMIM:618853
Toriello-Carey Syndrome
Anteriorly placed anus, Intrauterine growth retardation, Cryptorchidism, Aganglionic megacolon, H... ORPHA:3338
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi... OMIM:601957
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Limitation of joint mobility, Intrauterine... ORPHA:363528
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic... ORPHA:560
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Sandal gap, Short nose OMIM:300887
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Calf muscle hypertrophy, Scapular winging, Achilles tendon contr... OMIM:603689
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Abnormal tongue morphology, Ganglioneuromatosis, Pheochromocytoma, Ag... ORPHA:653
Lethal Acantholytic Erosive Disorder
Natal tooth, Intrauterine growth retardation, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 fi... ORPHA:158687
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Micrognathia, Talipes equinovarus, Sprengel anomal... OMIM:213980
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Depressed nasal bridge, Small hand, Delayed cranial suture closure, Respiratory insufficiency, In... OMIM:620005
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Limb hypertonia OMIM:609460
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Postnatal growth retar... OMIM:613026
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Lethal Congenital Contracture Syndrome 10
Narrow chest, Stiff neck, Broad ribs, Intrauterine growth retardation, Femoral bowing, Overlappin... OMIM:617022
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Retro... OMIM:105650
Geleophysic Dysplasia 2
Cone-shaped epiphysis, Limitation of joint mobility, Delayed skeletal maturation, Respiratory ins... OMIM:614185
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Broad thumb, Enlarged thorax, Intrauterine growth retardation, Micrognathia, P... ORPHA:251071
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Hypoplasia of t... OMIM:609053
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Slender long bone, Joint hypermobility, Clinodactyly of the 5th toe, ... OMIM:170390
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Long foot, Micrognathia, Arachnodactyly, Growth delay, Respiratory failure ORPHA:2707
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Bainbridge-Ropers Syndrome
Hand clenching, Micrognathia, Arachnodactyly, Pes planus, Short nose, Broad nasal tip, Choanal st... OMIM:615485
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Slender long bone, Malar flattening, Joint hypermobility, Pec... OMIM:618590
Shwachman-Diamond Syndrome 1
Narrow chest, Neonatal respiratory distress, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:260400
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Supernumerary nipple, Esophagitis, Cryptorchidism, Hiatus hernia, Agangl... ORPHA:2896
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Bulbous nose, Micrognathia, Hypoplasia of the radius, Short stature, G... OMIM:613951
Trisomy 12P
Wide nasal bridge, Delayed skeletal maturation, Micrognathia, Malar flattening, Large hands, Shor... ORPHA:1699
Nestor-Guillermo Progeria Syndrome
Thin ribs, Microretrognathia, Dental malocclusion, Pathologic fracture, Joint stiffness, Microgna... OMIM:614008
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Narrow chest, Distal clavicular thinning, Micromelia, Bell-shaped thorax, B... OMIM:600092
Attrv122I Amyloidosis
Tendon rupture, Left ventricular hypertrophy, Abnormal enteric nervous system morphology, Abnorma... ORPHA:85451
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynostosis, Toe syn... OMIM:101400
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:214900
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m... OMIM:616867
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Short ribs, Rib fusion, Missing ribs, Vertebral fusion OMIM:271520
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Anteverted nares, Short nose, Tapered finger OMIM:619854
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Neonatal respiratory distress, Bulbous nose, Prominent nasal bridge, Clin... OMIM:618828
Wiedemann-Steiner Syndrome
Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j... OMIM:605130
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Genu... ORPHA:2753
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Polydactyly, Brachydactyly, Short long bone, Short stature OMIM:613819
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Meier-Gorlin Syndrome 6
Severe short stature, Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Sandal ga... OMIM:616835
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Death ... OMIM:245400
Leopard Syndrome 1
Pectus carinatum, Mandibular prognathia, Depressed nasal ridge, Delayed menarche, Limited elbow m... OMIM:151100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Dpm1-Cdg
Depressed nasal bridge, Sandal gap, Long hallux, Micrognathia, Knee flexion contracture, Limb und... ORPHA:79322
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Underdeveloped nasal alae, 3-4 toe syndactyly, Narrow nose, Narrow n... OMIM:164200
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Narrow chest, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Depre... OMIM:612651
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Pes cavus, Short nose OMIM:245570
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal limb bone morphology, Abnormal rib mo... OMIM:118100
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Depressed nasal ridge, Intrauterine growth retardation, Triphalan... ORPHA:1912
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Retrognathia, Micrognathia, Overgrowth, Tapered finger, Hypoplasia of teeth, S... OMIM:620250
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Elevated circulati... ORPHA:210110
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Intrauterine growth retardation, Pes cavus, Single transverse palm... ORPHA:79243
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Tapered finger OMIM:181180
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Intrauterine growth retardation, Anteverted nares, Mal... OMIM:219200
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Short nose, Retrognathia OMIM:613670
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Eruption failure, Partial absence of thumb, Micrognathia, 2-3 toe synd... ORPHA:476126
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Camptodactyly of finger, Short 4th metacarpal, Aplasia... ORPHA:3201
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Foot polydactyly, Short nose, Preaxial hand polydactyly ORPHA:210548
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tall stature, Bulbous nose, Accelerated skeletal maturation, ... OMIM:618430
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ... OMIM:253200
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Delayed puberty, Short nose ORPHA:2598
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Malar flattening, Wormian bones, Short nose, Short stature, Craniosynostosis, W... OMIM:601853
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Broad ribs, Joint... OMIM:277600
Plaa-Associated Neurodevelopmental Disorder
Pectus carinatum, Postaxial foot polydactyly, Contractures of the large joints, Respiratory insuf... ORPHA:521426
Gm1-Gangliosidosis, Type Ii
Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bon... OMIM:230600
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... OMIM:167800
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Postnatal growth retardati... OMIM:619127
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Abnormality of alkaline phosphatase level, Dental malocclusion, Delayed eruption o... OMIM:190350
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormal joint morphology, Abnormal hip bone morphology, Abnormal ... ORPHA:3130
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose, Prominent metopic ridge ORPHA:46
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, ... ORPHA:1908
Aicardi Syndrome
Small hand, Block vertebrae, Prominence of the premaxilla, Missing ribs, Supernumerary ribs, Rib ... ORPHA:50
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Baker-Gordon Syndrome
Abnormal foot morphology, Prominent nasal tip, Short nose, Joint hypermobility OMIM:618218
Alagille Syndrome 1
Short distal phalanx of finger, Depressed nasal bridge, Bulbous nose, Hypoplasia of the ulna, Abn... OMIM:118450
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Neu-Laxova Syndrome
Osteopenia, Depressed nasal ridge, Rickets, Micromelia, Retrognathia, Osteomalacia, Pterygium, In... ORPHA:2671
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon ORPHA:3339
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth, Elevated circulating alkaline phosphatase concentration OMIM:613312
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Cholestasis, Intrauterine growth retardation, Cryptorchidism, Camptod... OMIM:608104
5Q14.3 Microdeletion Syndrome
Anteverted nares, Toe syndactyly, Short nose ORPHA:228384
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Narrow chest, Microretrognathia, Anteverted nares, Dea... OMIM:619124
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyse... OMIM:101800
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Micrognathia, Prominent nasal bridge, Down-sloping shoulders... ORPHA:1974
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Short nose, Delayed cranial suture closure ORPHA:1129
Stickler Syndrome
Slender build, Genu valgum, Micrognathia, Arachnodactyly, Hip dislocation, Protrusio acetabuli, S... ORPHA:828
Fatty Acyl-Coa Reductase 1 Deficiency
Short stature, Depressed nasal bridge, Growth delay, Short nose ORPHA:438178
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Neonatal respiratory distress, Popliteal pterygium, Limitation of joint mobil... ORPHA:2990
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Trisomy 1Q
Depressed nasal bridge, Toe syndactyly, Microretrognathia, Abnormal rib morphology, Camptodactyly... ORPHA:261344
Hand-Foot-Genital Syndrome
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... OMIM:140000
Myhre Syndrome
Severe short stature, Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia... ORPHA:2588
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata... OMIM:245650
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Broad thumb, Dental malocclusion, Clinodactyly, Anteve... OMIM:616894
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Alg9-Cdg
Depressed nasal bridge, Rhizomelia, Microretrognathia, Flared metaphysis, Delayed cranial suture ... ORPHA:79328
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxil... OMIM:608156
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Micrognathia, Short palm, Hip dislocation, Short nose, Wide... ORPHA:3107
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Micrognathia, Malar flattening, Short statu... ORPHA:79113
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Short stature, Short nose, Tapered finger ORPHA:1920
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Pectus carinatum, Depressed nasal bridge, Anteverted nares, Short stature, Sho... OMIM:616430
Osteosarcoma
Abnormal circulating lactate dehydrogenase concentration, Increased circulating lactate dehydroge... ORPHA:668
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Myopathy, Jejunal atresia, Duodenal atresia, Cleft pala... OMIM:243605
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Anteverted nares, Respiratory failure, Wide nasal bridge OMIM:312170
Pontocerebellar Hypoplasia, Type 2E
Micrognathia, Short stature, Osteoporosis, Flexion contracture, Short nose, Wide nose OMIM:615851
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Delayed skeletal ... OMIM:608328
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Wide anterior fontanel OMIM:618240
Aymé-Gripp Syndrome
Depressed nasal bridge, Reduced arm span, Limitation of joint mobility, Delayed cranial suture cl... ORPHA:1272
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Contractures of the large joints, Respiratory insufficiency, Micrognathia, Sing... OMIM:617527
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Choanal atresia, Preaxial hand polydactyly, Anteverted nares, Micrognathia, Malar... OMIM:610536
Peho Syndrome
Edema of the dorsum of feet, Retrognathia, Short nose, Tapered finger OMIM:260565
Cardiofaciocutaneous Syndrome 1
Pectus carinatum, Osteopenia, Depressed nasal bridge, Dental malocclusion, Delayed skeletal matur... OMIM:115150
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Postnatal growth retardation, Hemiatrophy, St... OMIM:302960
Baraitser-Winter Syndrome 1
Wide nasal bridge, Retrognathia, Postnatal growth retardation, Anteverted nares, Duplication of p... OMIM:243310
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, M... OMIM:236680
Costello Syndrome
Pectus carinatum, Depressed nasal bridge, Tracheomalacia, Deep plantar creases, Respiratory insuf... OMIM:218040
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Microretrognathia, Bulbous nose, Overlapping toe, Short stature, Pectus excava... OMIM:618571
Tarp Syndrome
Wide nasal bridge, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine g... ORPHA:2886
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Weiss-Kruszka Syndrome
Horizontal crus of helix, Anteverted nares, Single transverse palmar crease, Clinodactyly of the ... OMIM:618619
Duane Retraction Syndrome
Wide nasal bridge, Preaxial hand polydactyly, Anteverted nares, Micrognathia, Aplasia/Hypoplasia ... ORPHA:233
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Apert Syndrome
Choanal atresia, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Micromelia, Finger synda... ORPHA:87
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p... OMIM:618469
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal foot morphology, ... ORPHA:261318
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia OMIM:190685
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Natal ... OMIM:234100
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Malar flattening, Arachnodactyly, Short nose OMIM:616420
Coffin-Lowry Syndrome
Thick nasal septum, Pes planus, Short metacarpal, Short nose, Wide nose, Hyperextensibility of th... OMIM:303600
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Small thenar eminence, Hip dislocation, Short nose, Wide nose, Short toe, Cervical ... OMIM:613458
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Neonatal death OMIM:276822
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Knee contracture, Death in childhood, Death in infancy, Thoracic s... OMIM:620278
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Clinodactyly, Short nose, Syndactyly OMIM:618087
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Charge Syndrome
Choanal atresia, Anosmia, Bifid femur, Short thumb, Abnormal rib morphology, Postnatal growth ret... OMIM:214800
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Col... OMIM:614602
Nicolaides-Baraitser Syndrome
Wide nasal base, Broad 2nd toe, Short metacarpal, Short nose, Delayed skeletal maturation, Bulbou... OMIM:601358
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Underdeveloped nasal alae... OMIM:148050
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal hand morphology, Small hand, Short phalanx of finger, Broad finger OMIM:300845
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Anteverte... OMIM:607330
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Nasal congestion, Chronic sinusitis, Chronic rhin... ORPHA:244
Slc39A8-Cdg
Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio... ORPHA:468699
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Triceps weakness, Weakness of the intrinsic hand muscles, Abnorm... ORPHA:98913
Smith-Lemli-Opitz Syndrome
Optic atrophy, Gastroesophageal reflux, Microglossia, Intrauterine growth retardation, Abnormalit... ORPHA:818
Ayme-Gripp Syndrome
Wide nasal bridge, Craniofacial asymmetry, Depressed nasal bridge, Delayed cranial suture closure... OMIM:601088
Lethal Congenital Contracture Syndrome 2
Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Microretrognathia, Abnormal sternum morphology, Recurrent joint dislocation, Gene... ORPHA:2953
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Desmosterolosis
Rhizomelia, Joint contracture of the hand, Hypoplastic nasal bridge, Anteverted nares, Micrognath... OMIM:602398
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Finger clinodactyly, Malar flattening, Pectus excavatum of inferior stern... OMIM:601353
Warburg Micro Syndrome 3
Postnatal growth retardation, Micrognathia, Ankle clonus, Clinodactyly of the 5th finger, Flexion... OMIM:614222
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iie
Neonatal asphyxia, Retrognathia, Respiratory insufficiency, Intrauterine growth retardation, Over... OMIM:608779
Floating-Harbor Syndrome
Carious teeth, Clinodactyly, Broad fingertip, Long nose, Dislocated radial head, Short metacarpal... ORPHA:2044
Cog8-Cdg
Protein-losing enteropathy, Skeletal muscle atrophy ORPHA:95428
Rhiny
Anteverted nares, Short nose OMIM:180360
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Ankle flexion contracture, Shoulder girdle muscle weakness, Elbow fle... ORPHA:2020
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Developmental And Epileptic Encephalopathy 80
Long philtrum, Micrognathia, Tented upper lip vermilion, Protruding tongue, Elevated circulating ... OMIM:618580
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Mednik Syndrome
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Pancreatic Agenesis 2
Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Depressed nasal bridge, Carious teeth, Neonatal respiratory distress,... OMIM:244450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure OMIM:265120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Thoracic hypoplasia, Elbow flexion contracture, Birth length greater than... OMIM:300868
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Metatarsus valgus, Talipes equ... ORPHA:261236
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... ORPHA:251014
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Broad nasal tip, Patellar hypoplasia, Thick nas... ORPHA:1827
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Fibrous syngnathia, Join... ORPHA:1300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose ORPHA:163961
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed skeletal matur... ORPHA:85199
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Elevated circulating alkaline phosphatase concentration OMIM:126550
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Growth delay, Aplasia of ... OMIM:617247
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:605479
Au-Kline Syndrome
Bifid nasal tip, Dental malocclusion, Retrognathia, Underdeveloped nasal alae, Deep plantar creas... OMIM:616580
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Anteverted nares, Prominent nasal bridge, Joint hypermobility, Tracheobronchoma... ORPHA:500159
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Preaxial polydactyly, Micrognathia, Aplasia of the ... OMIM:615948
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Hypoplasia of the maxilla, Femoral bowing, Increased susceptibi... OMIM:231070
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Broad hallux, Micromelia, Delayed skeletal maturation, Postnatal growth retardation, ... OMIM:614800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Sandal gap, Retrognathia, Abnormal dent... ORPHA:1812
Mucopolysaccharidosis, Type Vii
Severe short stature, Pectus carinatum, Thoracolumbar kyphosis, Hypoplasia of the odontoid proces... OMIM:253220
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Intr... ORPHA:3378
Aicardi Syndrome
Block vertebrae, Postnatal growth retardation, Anteverted nares, Prominence of the premaxilla, Mi... OMIM:304050
Joubert Syndrome 21
Bell-shaped thorax, Chronic sinusitis, Short ribs, Respiratory failure, Single naris OMIM:615636
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Short thumb, Broad hallux, Preaxial polydactyly, R... OMIM:149730
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Gorlin Syndrome
Wide nasal bridge, Palmar pits, Carious teeth, Plantar pits, Abnormality of the sense of smell, A... ORPHA:377
Chylomicron Retention Disease
Hepatic steatosis, Myopathy, Steatorrhea, Fat malabsorption, EMG: myopathic abnormalities, Increa... ORPHA:71
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Respiratory insufficiency, Anteverted nares, Short stature, Clinodacty... ORPHA:2031
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Broad hallux, Bulbous nose, Anteverted nares, Single transverse palmar cr... OMIM:614105
Microform Holoprosencephaly
Duodenal atresia, Panhypopituitarism, Intrauterine growth retardation, EMG: myopathic abnormaliti... ORPHA:280200
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
22Q11.2 Deletion Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Cholelithiasis, Intestinal m... ORPHA:567
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Retrognathia, Underdeveloped nas... OMIM:604173
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrota... OMIM:270400
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Death in infancy, Rib fusion, Disproportionate short-trunk... OMIM:277300
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal metaphysis morph... ORPHA:667
Monosomy 9Q22.3
Palmar pits, Plantar pits, Delayed eruption of teeth, Tall stature, Metopic synostosis, Polydacty... ORPHA:77301
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Deep plantar creases, Anteverted nares, Malar f... ORPHA:357001
Bile Acid Synthesis Defect, Congenital, 3
Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransfe... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619662
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Un... ORPHA:364577
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia OMIM:300514
Trisomy 10P
Depressed nasal bridge, Short toe, Retrognathia, Thumb contracture, Abnormality of the nose, Abno... ORPHA:171929
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Cardiorespiratory arrest, Scapular winging, Respiratory failure, Wide ant... ORPHA:26791
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Intrauterine growth ... OMIM:247200
Craniotubular Dysplasia, Ikegawa Type
Wide nasal bridge, Broad femoral neck, Broad ribs, Sclerosis of skull base, Anteverted nares, Dia... OMIM:619727
Trisomy 18
Choanal atresia, Microretrognathia, Deviation of finger, Narrow pelvis bone, Abnormal rib morphol... ORPHA:3380
Fanconi-Bickel Syndrome
Bowing of the long bones, Osteopenia, Growth delay, Rickets ORPHA:2088
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Malar flattening, Short sternum, Short nose, Wide anteri... OMIM:222448
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Respiratory failure, Ankle clonus OMIM:613954
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Short stature, Bo... OMIM:193100
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Cone-shaped epiph... OMIM:619269
Peho Syndrome
Pedal edema, Limitation of joint mobility, Anteverted nares, Malar flattening, Flexion contractur... ORPHA:2836
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Mucopolysaccharidosis, Type X
Wide nasal bridge, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate... OMIM:619698
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Clinodactyly, Short thumb, Abnormality of the nose, Intrau... ORPHA:1708
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Short nose ORPHA:329178
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Macrodontia of permanent maxillary central inci... ORPHA:79500
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Anteverted nares, Micrognathia, Talipes equinovarus, Brachydactyly, Sh... ORPHA:1358
6Q Terminal Deletion Syndrome
Clinodactyly, Talipes calcaneovalgus, Micrognathia, Joint hypermobility, Hallux valgus, Aplasia/H... ORPHA:75857
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Broad nasal tip, Clinodactyly, Retrognathia, Intrauterine growth retar... ORPHA:177907
Fetal Trimethadione Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Bilateral single transvers... ORPHA:1913
Mccune-Albright Syndrome
Abnormal facial skeleton morphology, Aneurysmal bone cyst, Dental malocclusion, Osteomalacia, Mon... ORPHA:562
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Mi... ORPHA:99776
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure ORPHA:2254
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe... ORPHA:2847
Aspergillosis
Abnormal rib morphology, Nasal congestion, Osteomyelitis, Abnormal long bone morphology, Sinusitis ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Elevated circulating al... OMIM:613489
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu... ORPHA:1328
C Syndrome
Depressed nasal bridge, Toe syndactyly, Limitation of joint mobility, Micromelia, Joint dislocati... ORPHA:1308
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short stature, Short nose ORPHA:1200
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Tall stature, Broad foot, Talipes equinovarus, Sh... ORPHA:373
Cornelia De Lange Syndrome 6
Pectus carinatum, Macrodontia of permanent maxillary central incisor, Short 1st metacarpal, Delay... OMIM:620568
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia ORPHA:139466
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, Broad nasal tip, Postnatal growth retardation, Intraut... ORPHA:357074
Gm1 Gangliosidosis Type 1
Pectus carinatum, Depressed nasal bridge, Broad nasal tip, Intrauterine growth retardation, Broad... ORPHA:79255
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Talipes, Short hallux, Pes planus, Short 5th finger, Bro... ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Small hand, Broad nasal tip, Clinodactyly, Delayed skeletal maturation, B... OMIM:309590
Cog1-Cdg
Posterior rib gap, Osteopenia, Rhizomelia, Wide nasal bridge, Postnatal growth retardation, Micro... ORPHA:263508
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad nasal tip, Disproportionate short-limb short stature, Clinodactyly, Intrauterine growth ret... OMIM:616541
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Asbestos Intoxication
Respiratory failure, Clubbing of fingers ORPHA:2302
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Short nose, Prominent metopi... ORPHA:314655
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Postnatal growth retar... ORPHA:254519
Vitamin D-Dependent Rickets, Type 3
Elevated circulating alkaline phosphatase concentration OMIM:619073
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Warburg Micro Syndrome 2
Postnatal growth retardation, Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th to... OMIM:614225
Alpha-Mannosidosis, Infantile Form
Pectus carinatum, Osteopenia, Mandibular prognathia, Depressed nasal bridge, Cranial hyperostosis... ORPHA:309282
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Narrow nos... OMIM:618454
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase OMIM:619985
Arteriosclerosis, Severe Juvenile
Short phalanx of finger, Hip dysplasia OMIM:208060
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Neonatal respiratory distress, Underdeveloped nasal alae, Intrauterine gr... OMIM:619005
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteopenia, Dental malocclusion, Pathologic fracture, Anteverted nares, Genu... OMIM:102500
3Q29 Microdeletion Syndrome
Pectus carinatum, Prominent nasal bridge, Joint hypermobility, Clinodactyly of the 5th finger, Pe... ORPHA:65286
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Micrognathia, Short nose OMIM:617802
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Abnormal spleen physiology, Jejunitis ORPHA:398063
Gapo Syndrome
Depressed nasal bridge, Eruption failure, Delayed skeletal maturation, Delayed cranial suture clo... OMIM:230740
Bannayan-Riley-Ruvalcaba Syndrome
Broad thumb, Delayed skeletal maturation, Tall stature, Anteverted nares, Micrognathia, Joint hyp... ORPHA:109
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer ORPHA:3217
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Distal Deletion 9P
Wide nasal bridge, Brachydactyly, Short nose, Enlarged thorax ORPHA:1642
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Optic atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Vi... OMIM:601110
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Neonatal death, Choanal... OMIM:275210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Portal hypertension OMIM:619431
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Skeletal muscle atrophy, Decreased testicu... ORPHA:110
Congenital Myopathy 10B, Mild Variant
Achilles tendon contracture, Knee contracture, Respiratory failure, Elbow contracture OMIM:620249
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c... ORPHA:199
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis OMIM:617100
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Bulbous nose, Intrauterine growth retardation, Microg... ORPHA:46059
Fetal Akinesia Deformation Sequence 1
Thin ribs, Congenital contracture, Slender long bone, Thoracic hypoplasia, Camptodactyly of finge... OMIM:208150
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Gastrointestinal dysmotility, Duodenal atresia, Cryptorchidism OMIM:617798
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Congenital hip dislocation, Osteopenia, Depressed nasal bridge, Disproportionate tall ... OMIM:225400
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Postnatal growth retardation, Shor... OMIM:200990
Fetal Alcohol Syndrome
Joint stiffness, Intrauterine growth retardation, Micrognathia, Anteverted nares, Short stature, ... ORPHA:1915
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Anteverted na... ORPHA:1340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Absent thumb, Slender long ... ORPHA:500150
Dihydropyrimidinase Deficiency
Talipes equinovarus, Short phalanx of finger OMIM:222748
Immunodeficiency 54
Respiratory insufficiency, Postnatal growth retardation, Intrauterine growth retardation, Short s... OMIM:609981
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Jaberi-Elahi Syndrome
Hand clenching, Pectus carinatum, Depressed nasal bridge, Joint stiffness, Joint hypermobility, T... OMIM:617988
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed skeletal maturation, Micrognathia, Proportiona... OMIM:613457
Congenital Multicore Myopathy With External Ophthalmoplegia
Shoulder girdle muscle weakness, Joint hypermobility, Severe postnatal growth retardation, Rectus... ORPHA:98905
Orofaciodigital Syndrome Type 1
Wide nasal bridge, Choanal atresia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly... ORPHA:2750
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Cryptorchidism, Splenomegaly, Hepatomegaly... OMIM:618440
Mitochondrial Trifunctional Protein Deficiency
Equinovarus deformity, Respiratory insufficiency, Pes cavus, Equinus calcaneus, Decreased patella... ORPHA:746
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, Wide nasal bridge, Prominent crus of helix, 3-4 toe... ORPHA:1449
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Short stature, Pectus... ORPHA:2835
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Elbow... OMIM:252940
Vater/Vacterl Association
Choanal atresia, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnormal sternum mor... OMIM:192350
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Knee flexion contracture, Calf muscle hypertrophy, Achilles tendon contra... OMIM:310200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose OMIM:614744
Oncogenic Osteomalacia
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... ORPHA:352540
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:263501
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Osteomalacia, Genu valgum, Micrognathia, Patellar dislocation, Hip dislocation, Re... ORPHA:534
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Underdeveloped nasal alae, Postnatal growth retardation, Anteverted nares... OMIM:300912
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Small hand, Clinodactyly, Broad hallux, Retrognathia, Narrow nose, Intrauterine ... OMIM:301044
Alg12-Cdg
Sandal gap, Intrauterine growth retardation, Overlapping fingers, Micrognathia, Prominent nasal b... ORPHA:79324
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... ORPHA:913
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Abnormal thumb morphology... ORPHA:2719
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Mandibular prognathia, Radial deviation of finger, Clinodactyly, Postnata... OMIM:301040
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Genu valgum, Pes planus, Short nose, Broad nasal tip, Prominent finger... OMIM:615873
Menkes Disease
Narrow chest, Chondrocalcinosis, Osteomyelitis, Intrauterine growth retardation, Micrognathia, Jo... ORPHA:565
Kaposiform Lymphangiomatosis
Epistaxis, Fractures of the long bones, Abnormal scapula morphology, Osteolysis, Abnormal femur m... ORPHA:464329
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Tetrasomy 12P
Delayed eruption of teeth, Delayed skeletal maturation, Anteverted nares, Joint hypermobility, Sh... ORPHA:884
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Small hand, Hypoplasia of the maxilla, Cervical ribs, ... OMIM:617140
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, E... ORPHA:1199
Micro Syndrome
Wide nasal bridge, Joint stiffness, Intrauterine growth retardation, Micrognathia, Anteverted nar... ORPHA:2510
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prolonged neonatal ja... OMIM:214950
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Clinodactyly, Delayed skeletal maturation, Postnatal growth retardation, Bulbous n... ORPHA:261323
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Postnatal growth retardation, Intrauterine growth retardation, Micrognath... OMIM:257300
Aspartylglucosaminuria
Wide nasal bridge, Pectus carinatum, Carious teeth, Delayed skeletal maturation, Joint stiffness,... ORPHA:93
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Thoracic hypoplasia, Retrognathia, Intrauterine growth retardation, Micro... OMIM:608013
Multiple Synostoses Syndrome 4
Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis OMIM:617898
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure OMIM:610921
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Coffin-Siris Syndrome
Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,... ORPHA:1465
Neu-Laxova Syndrome 1
Depressed nasal ridge, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodac... OMIM:256520
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Intrauterine growth retardation, 2-3 finger syndactyly, Hypoplasia of ... OMIM:603467
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop... OMIM:147060
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal joint morphology, Metaphyseal dysplasia, Abnormal bone ossification, Genu varum, Multipl... ORPHA:99646
Sprengel Deformity
Spina bifida occulta, Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia OMIM:184400
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Depressed nasal bridge, Retrognathia, D... OMIM:612289
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Villous atrophy, Enterocolitis OMIM:616050
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Broad ribs, Genu valgum, Broad long bone diaphyses, Limited elbow extensi... OMIM:301066
Fraser Syndrome 2
Underdeveloped nasal alae, Cutaneous syndactyly, Short thorax, Respiratory failure, Wide nose OMIM:617666
Cerebrooculonasal Syndrome
Proboscis, Postnatal growth retardation, Anteverted nares, Prominent nasal bridge, Malar flatteni... OMIM:605627
Monosomy 9P
Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Abnormal rib morphology, A... ORPHA:261112
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Bilateral cryptorchidism, Meckel diverticulum, Pyloric stenosis OMIM:616395
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Low hanging columella, Growth delay, ... OMIM:615803
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Delayed skele... OMIM:607872
Microphthalmia, Syndromic 3
Postnatal growth retardation, Supernumerary ribs, Rib fusion, Missing ribs, Short stature, Verteb... OMIM:206900
Prune Belly Syndrome
Congenital hip dislocation, Talipes equinovarus, Pectus excavatum, Abnormal rib morphology ORPHA:2970
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... ORPHA:1666
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Sinusitis, Short statur... OMIM:242860
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Retrognathia, Intrauterine growth retardation, Spina bifida occulta, Shor... OMIM:301030
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab... ORPHA:2907
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Finger syndactyly, Bulbous nose, 11 pairs of ribs, Micrognathia, 2... OMIM:620025
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Cryptorchidism, Abnormality of the gastrointestinal tract, Hy... ORPHA:2241
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hip dislocation, Delayed skeletal maturation, Short nose OMIM:608776
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Sprengel anomaly, Abnormal rib morphology OMIM:601076
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Rickets, Wrist swelling, Camptodactyly of finger,... OMIM:309000
Chops Syndrome
Tracheomalacia, Anteverted nares, Cervical C2/C3 vertebral fusion, Brachydactyly, Short stature, ... OMIM:616368
Wolf-Hirschhorn Syndrome
Micrognathia, Radioulnar synostosis, Talipes equinovarus, Short hallux, Hip dislocation, Delayed ... OMIM:194190
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Elevated circulating alkaline phosphatase concentration OMIM:613982
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentra... OMIM:616828
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Generalized muscle hypertrophy, Supernumerary nipple, Crypt... OMIM:235730
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Short nose, Wide anterior fontanel, Contracture of the proximal inter... ORPHA:457279
Tibial Hemimelia
Absent tibia OMIM:275220
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Abnor... ORPHA:464
Hydrolethalus
Retrognathia, Micromelia, Micrognathia, Abnormality of the sense of smell, Postaxial hand polydac... ORPHA:2189
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin OMIM:615923
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Delayed skeletal maturation, Respiratory insufficiency, Slender build, Intra... OMIM:613658
Khan-Khan-Katsanis Syndrome
Clinodactyly, Intrauterine growth retardation, Micrognathia, Postaxial polydactyly, Delayed closu... OMIM:618460
Scedosporiosis
Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Respiratory failure ORPHA:449280
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Joint hypermobility OMIM:300143
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Broad nasal tip, Retro... OMIM:617157
Metachromatic Leukodystrophy
Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal duodenum morphology, A... ORPHA:512
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:39812
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Wide nasal bridge, Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Short stature, Clinoda... ORPHA:140952
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegaly, Hepatomega... OMIM:235255
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator... OMIM:608647
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, 11 pairs of ribs, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:264480
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Immunodeficiency 31C
Protein-losing enteropathy, Skeletal muscle atrophy, Villous atrophy, Splenomegaly, Hepatomegaly,... OMIM:614162
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Hand polydactyly, Micrognathia ORPHA:261197
Deeah Syndrome
Neonatal respiratory distress, Retrognathia, Delayed skeletal maturation, Intrauterine growth ret... OMIM:619004
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Widely spaced teeth, Gingival overgrowth, Elevated circulating alkaline phospha... OMIM:618143
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Abnormality of the humeroulnar joint, Abnormal rib morphology ORPHA:2234
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Rectal fis... OMIM:115470
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Short thumb, Delayed skeletal maturation, Preaxial hand polydactyly, Abnormal ... ORPHA:280
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Osteoporosis, Rickets, Death in childhood OMIM:560000
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Intrauterine growth retardation, Micrognathia, Hypoplasia of... ORPHA:3412
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlappin... OMIM:613406
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Camurati-Engelmann Disease, Type 2
Elevated circulating alkaline phosphatase concentration OMIM:606631
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Intrauterine growth retardation, Stomach cancer, Intestinal polyposis, Rhabdo... ORPHA:1052
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased liver function, Ele... OMIM:617093
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod... ORPHA:85165
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short th... ORPHA:2363
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal death OMIM:605711
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Decreased motor nerve conduction velocity, Foot... ORPHA:456312
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Thick nasal alae, Avascular necrosis of ... ORPHA:581
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Short stature, Recurrent fractures, Bone pain OMIM:613388
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Mild short stature, Short nose OMIM:620292
Kleefstra Syndrome
Limitation of joint mobility, Tracheomalacia, Delayed eruption of teeth, Anteverted nares, Malar ... ORPHA:261494
Ogden Syndrome
Flared nostrils, Delayed cranial suture closure, Postnatal growth retardation, Micrognathia, Shor... OMIM:300855
Cerebrocostomandibular Syndrome
Posterior rib gap, Neonatal respiratory distress, Tracheomalacia, Intrauterine growth retardation... ORPHA:1393
Leukocyte Adhesion Deficiency Type Ii
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Intrauterine growth retardation... ORPHA:99843
Mhc Class Ii Deficiency 1
Villous atrophy, Biliary tract abnormality, Cholangitis, Colitis, Viral hepatitis OMIM:209920
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Prominent finger... ORPHA:363611
Donnai-Barrow Syndrome
Depressed nasal bridge, Wide anterior fontanel, Short nose ORPHA:2143
Gm1-Gangliosidosis, Type I
Severe short stature, Depressed nasal ridge, Joint stiffness, Intrauterine growth retardation, De... OMIM:230500
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration OMIM:615422
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short stature, Pes cavus, Short nose ORPHA:289266
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Mult... ORPHA:464306
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Micrognathia, Broad foot,... OMIM:601803
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Depressed nasal bridge, Delayed eruption of teeth, Micromelia, Retrognathia... ORPHA:1675
Osteogenesis Imperfecta, Type Xv
Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short stature, Recurre... OMIM:615220
Hypophosphatemic Rickets And Hyperparathyroidism
Rachitic rosary, Rickets, Hypophosphatemic rickets, Short stature, Bone pain OMIM:612089
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Abnormal ilium morphology, Short distal phalanx of finger, Deep plantar c... OMIM:614080
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Rickets OMIM:611590
Renal Tubular Acidosis, Proximal
Short stature, Rickets, Osteomalacia OMIM:179830
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Absent thumb, Short thumb, Hypoplasia of the radius OMIM:610832
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Intrauterine grow... ORPHA:887
Shwachman-Diamond Syndrome 2
Death in childhood, Death in infancy, Metaphyseal widening, Anterior rib cupping, Short stature, ... OMIM:617941
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Radial-Renal Syndrome
Short stature, Absent thumb, Absent radius OMIM:179280
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Gastroesophageal reflux, Intrauterine growth retardation, Cryptorchidi... ORPHA:464311
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase, Everted lower lip vermilion ORPHA:314389
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Stippled calcification in carpal bones, Respiratory failure, Clubbing ... ORPHA:60025
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Talipes equinovarus, Advanced eruption of teeth, Short nose OMIM:617865
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose, Metopic synostosis OMIM:300581
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidism, Sple... ORPHA:1655
Boutonneuse Fever
Abnormality of the plantar skin of foot, Respiratory failure, Abnormal skin morphology of the palm ORPHA:83313
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Microretrognathia... ORPHA:280633
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, Decreased liver function, Widely spaced teeth, Elev... OMIM:618268
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Camptodactyly of finger, Intrauterine growth retardation, Cryptorchidi... ORPHA:468631
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Cleft lip, Delayed eruption of teeth, Umbilical hernia, Widely spaced teeth, Elevated circulating... OMIM:280000
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased intestinal transit time, Villous atroph... OMIM:619377
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia, Elevated circulating alkaline phosphatase con... OMIM:211900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolys... OMIM:612852
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Short 5th toe, 2-4 toe cutaneous syndactyly, Retrognathia, Underdeveloped nasal ... ORPHA:268261
Cystinosis, Nephropathic
Rachitic rosary, Rickets, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rickets, Del... OMIM:219800
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory failure, Clubbing, Respiratory insufficiency OMIM:610913
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Elevated circulating alkaline phosphatase concentration OMIM:610968
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Abnormality of the palmar creases, Wide nasal bridge, Carious teeth, Broad nasa... OMIM:619522
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Increased circulating lactate dehydrogenase concentration, Elevated circulating al... OMIM:259700
Dend Syndrome
Anteverted nares, Clinodactyly of the 4th finger, Short nose, Prominent metopic ridge ORPHA:79134
Bohring-Opitz Syndrome
Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Intrauterine growth retard... OMIM:605039
Charge Syndrome
Choanal atresia, Anosmia, Bifid femur, Depressed nasal bridge, Hypoplasia of the zygomatic bone, ... ORPHA:138
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Degcags Syndrome
Osteopenia, Toe syndactyly, Short thumb, Tracheomalacia, Preaxial hand polydactyly, Delayed skele... OMIM:619488
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration ORPHA:52430
Aggressive Systemic Mastocytosis
Portal hypertension, Decreased liver function, Elevated total serum tryptase, Elevated circulatin... ORPHA:98850
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Mitten deformity, Enamel hypoplasia, Osteoporosis, Growth delay, R... ORPHA:79404
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Cryptorchidism, Camptodactyly of finger ORPHA:2273
Infant Acute Respiratory Distress Syndrome
Abnormal thorax morphology, Respiratory failure ORPHA:70587
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Multiple palmar creases, Pes planus, Short nose OMIM:611936
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Respiratory insufficiency, Retrognathia, Joint hypermobility ORPHA:456328
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Periportal fibrosis, C... ORPHA:731
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Respiratory failure, Death in childhood OMIM:619847
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:600803
Prolidase Deficiency
Concave nasal ridge, Depressed nasal bridge, Micrognathia, Short nose OMIM:170100
Cystinosis
Short stature, Delayed puberty, Rickets ORPHA:213
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:614866
Snakebite Envenomation
Epistaxis, Respiratory failure ORPHA:449285
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Micrognathia, Tented upper lip v... ORPHA:369837
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Recurrent upper respiratory tract infections, Cutaneous syndactyly of toes... OMIM:618332
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Bell-shaped thorax, Micrognathia, Horizontal ribs, Growth delay OMIM:614857
Congenital Disorder Of Glycosylation, Type Iiaa
Bilateral talipes equinovarus, Narrow chest, Knee flexion contracture, Short long bone OMIM:620454
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Neonatal asphyxia, Proximal muscle weakness in upper limbs, Abnormality of the foot mu... ORPHA:169189
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Retrognathia, Death in infancy, Joint hypermobility, Neonatal death OMIM:300219
Limb Body Wall Complex
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Broad hallux, Thoracic hypoplasia, Ap... ORPHA:2369
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Respiratory failure OMIM:620326
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Hypopituitarism, Atretic gallbladder, Splenomegaly, Prolonged n... ORPHA:30391
Kindler Epidermolysis Bullosa
Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Abnormal den... ORPHA:2908
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint dislocation, Delayed cranial suture closure, Short columella, Generalize... OMIM:601776
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps,... ORPHA:247806
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Retrognathia, Bulbous nose, Rib fusion, Clinodactyly of the 5th finger, Tapered finger ORPHA:544488
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure OMIM:263000
Cerebrofaciothoracic Dysplasia
Narrow chest, Rib fusion, Sprengel anomaly, Bifid ribs, Short stature, Short nose, Wide nose ORPHA:1394
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, ... ORPHA:83617
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose OMIM:137550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Downturned corners of mouth, Long philtrum, Micrognathia, Elevated circulating alkaline phosphata... OMIM:618548
Mucopolysaccharidosis Type 2, Severe Form
Wide nasal bridge, Recurrent upper respiratory tract infections, Limitation of joint mobility, Ca... ORPHA:217085
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Prominent nasal tip, Pes valgus, Prog... ORPHA:522077
Peters Plus Syndrome
Depressed nasal bridge, Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature, Sh... ORPHA:709
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose OMIM:618774
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangiectasia, Cryptorch... OMIM:235510
Restrictive Dermopathy
Thin ribs, Osteopenia, Choanal atresia, Arthrogryposis multiplex congenita, Natal tooth, Aplasia/... ORPHA:1662
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Death in infancy, Choanal stenosis, Craniosynostosis, Maxillozygomatic hypoplas... ORPHA:1790
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Intrauterine growth retardation, Respiratory failure OMIM:620327
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin OMIM:167320
Mucopolysaccharidosis Type 2, Attenuated Form
Wide nasal bridge, Recurrent upper respiratory tract infections, Limitation of joint mobility, Ca... ORPHA:217093
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Postnatal growth retardation, Micrognathia, Prominent nasal b... OMIM:300749
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria OMIM:252920
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Malar flattening, Sever... OMIM:613038
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Short toe, Finger syndactyly, Prominent nasal bridge, Advanced eruption of tee... ORPHA:1519
Infantile Krabbe Disease
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness ORPHA:206436
Diamond-Blackfan Anemia 8
Short stature, Growth delay, Short nose, Wide nasal bridge OMIM:612563
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Respiratory insufficiency, Intercostal muscle weaknes... ORPHA:258
Microphthalmia, Syndromic 1
High, narrow palate, Joint contracture of the hand, Optic disc coloboma, Cryptorchidism, Aganglio... OMIM:309800
Osteopetrosis, Autosomal Recessive 9
Elevated circulating alkaline phosphatase concentration OMIM:620366
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal hypertension, Elevated... ORPHA:53035
Noonan Syndrome 3
Pectus carinatum, Hypoplastic nasal bridge, Delayed skeletal maturation, Anteverted nares, Sagitt... OMIM:609942
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Growth delay ORPHA:77298
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Septo-optic dysplasia,... OMIM:301043
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Barrel-shaped chest, Tibi... OMIM:259770
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Jaundice, Elevated circulating alkaline phosphatase con... OMIM:613095
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Short statur... OMIM:248250
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Short nose, Choanal atresia, Hypoplasia of the maxilla, Femoral bowing, Aplastic zy... OMIM:616462
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Abetalipoproteinemia
Osteopenia, Pes cavus, Distal lower limb muscle weakness, Talipes equinovarus, Respiratory failure ORPHA:14
Bloom Syndrome
Retrognathia, Intrauterine growth retardation, Micrognathia, Malar flattening, Severe postnatal g... ORPHA:125
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Dimple on nasal ... ORPHA:1791
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria OMIM:252900
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs inversus, Intestinal malrotation, Intrauterine growth retardation, Abdominal situ... OMIM:270100
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
White-Kernohan Syndrome
Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Joint hypermob... OMIM:619426
Celiac Disease, Susceptibility To, 1
Rickets, Postnatal growth retardation, Delayed puberty, Enamel hypoplasia, Short stature, Osteopo... OMIM:212750
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Abnormal rib morphology ORPHA:2578
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Intrauterine growt... ORPHA:436252
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Duodenal atresia, Cryptorchidism OMIM:618846
Lymphangiectasia, Intestinal
Prominent floating ribs, Pedal edema, Stillbirth OMIM:152800
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Talipes valgus, Slender build, Narrow nasal bridge, Prom... ORPHA:466791
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Growth delay, Bulbous nose, Mandibular prognathia, Short nose, Prominent ... ORPHA:261144
Gardner Syndrome
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla of Vater carcinoma, Duodenal p... ORPHA:79665
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Respiratory insufficiency, Death in infancy, Flexion contracture OMIM:615368
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration, Premature loss of teeth OMIM:602080
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc... ORPHA:733
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Thin ribs, Flexion contracture, Mild short stature OMIM:614833
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Tarsal sclerosis, Delayed skeletal maturation, Shoulder dislocation, ... ORPHA:404454
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:263455
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Williams Syndrome
Synostosis of joints, Carious teeth, Genu valgum, Micrognathia, Death in early adulthood, Radioul... ORPHA:904
Cadds
Intrauterine growth retardation, Micrognathia, Short nose ORPHA:369942
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... ORPHA:64744
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Riddle Syndrome
Neonatal asphyxia, Chronic sinusitis, Recurrent sinusitis, Arthritis, Short stature, Respiratory ... ORPHA:420741
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Disproportionate short stature, Retrognathia, Short long bone, Prominent nasol... OMIM:301110
Hypoplasminogenemia
Abnormality of the ovary, Duodenal ulcer ORPHA:722
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth... OMIM:600001
Leigh Syndrome
Intrauterine growth retardation, Respiratory failure, Growth delay, Multiple joint contractures ORPHA:506
Pterygium Colli, Isolated
Short nose OMIM:177990
Iniencephaly
Anal atresia, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, Duodenal atresia ORPHA:63259
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Acute colitis, Elevated circulating alka... ORPHA:67
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Schisis Association
Micromelia ORPHA:63862
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Rickets, Recurrent fractures OMIM:268315
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Thickened ribs, Recurrent upper respiratory tract infections, Dense calvaria OMIM:252930
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose ORPHA:284169
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Genu valgum, Convex nasal ridge, Short stature, Flexion contract... OMIM:619321
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Delayed skeletal maturation, Underdeveloped nasal alae, Intrauterine g... ORPHA:2315
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Hepatitis, Ileus OMIM:304790
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Micrognathia, Short nose OMIM:266810
S-Adenosylhomocysteine Hydrolase Deficiency
Pes planus, Growth delay, Respiratory failure ORPHA:88618
Sotos Syndrome
Ankle flexion contracture, Gastroesophageal reflux, Cryptorchidism, Hip contracture, Bilateral ca... ORPHA:821
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Holoprosencephaly 9
Choanal atresia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Br... OMIM:610829
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:69665
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Short nose OMIM:618437
Fraser Syndrome
Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Finger syndactyly... ORPHA:2052
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cryptorchidism, Aganglionic megacolon, Gast... ORPHA:2152
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Wide nasal bridge, Retrognathia, Abnormal dental enamel morphology, Microgn... ORPHA:2556
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:605814
Gorham-Stout Disease
Elevated alkaline phosphatase of bone origin, Mandibular pain, Abnormality of the temporomandibul... ORPHA:73
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Arthrogryposis multiplex congenita, Internally rotated shoulders, Micrognathia, Hip contracture, ... OMIM:619503
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616026
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Cryptorchidism OMIM:618183
Coccidioidomycosis
Broad ribs, Osteomyelitis, Abnormal long bone morphology, Abnormal metacarpal morphology, Arthrit... ORPHA:228123
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Cryptorchidism, Aganglionic megacolon, Clef... ORPHA:261537
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Ulnar deviatio... OMIM:122880
Williams-Beuren Syndrome
Osteopenia, Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Intrauterine growth ret... OMIM:194050
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate OMIM:308205
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Poliomyelitis
Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Trichothiodystrophy 1, Photosensitive
Retrognathia, Death in infancy, Short stature, Flexion contracture, Short nose OMIM:601675
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Overgrowth, Short nose, Joint hypermobility OMIM:605309
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating aspartat... OMIM:227810
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Jaundice, Elevated circulating hepatic transaminase con... ORPHA:400
Al Amyloidosis
Macroglossia, Abnormal salivary gland morphology, Xerostomia, Elevated circulating alkaline phosp... ORPHA:85443
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Heterotaxy, Visceral, 1, X-Linked
Polysplenia, Abdominal situs inversus, Posteriorly placed anus, Biliary atresia, Hepatomegaly, As... OMIM:306955
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Celiac disease, Portal hype... ORPHA:186
3-Methylglutaconic Aciduria Type 7
Growth delay, Respiratory failure ORPHA:445038
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Pelizaeus-Merzbacher Disease, Connatal Form
Short stature, Respiratory failure ORPHA:280210
Glycogen Storage Disease Ib
Inflammation of the large intestine, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepatomegal... OMIM:232220
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Hepatitis, Abnormal cranial nerve m... ORPHA:73263
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Optic atrophy, Cryptorchidism, Aganglionic ... ORPHA:261552
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Disproportionate short-trunk short stature OMIM:608681
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Joint hyp... ORPHA:2729
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, 2-3 toe syndac... OMIM:614188
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... ORPHA:562639
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Familial Adenomatous Polyposis 1
Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Adenomatous... OMIM:175100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness OMIM:220110
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Villous atrophy, Hepatomegaly, Macronodular cirrhosis, Pancrea... OMIM:557000
Acute Lung Injury
Respiratory failure ORPHA:178320
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Osteomalacia, Abnormal hip joint morphology, Hypophosph... ORPHA:51608
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Genitourinary And/Or Brain Malformation Syndrome
Joint stiffness, Micrognathia, Aplasia of the nasal bone, Short nose, Syndactyly OMIM:618820
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Respiratory failure OMIM:620296
Peripartum Cardiomyopathy
Respiratory failure, Pedal edema ORPHA:563
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures, Respi... ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Wide nasal bridge, Broad nasal tip, Sandal gap, Malar flattening, Joint hypermo... OMIM:620330
Nijmegen Breakage Syndrome
Depressed nasal bridge, Retrognathia, Prominent nose, Prominent nasal bridge, Convex nasal ridge,... ORPHA:647
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, R... OMIM:607625
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Villous atrophy, Splenomegaly, Colitis OMIM:614700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Flexio... ORPHA:365
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... OMIM:615512
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Limb-girdle muscular dystrophy, Fat malabsorption, Calf muscle pseudohypertrophy ORPHA:96180
Staphylococcal Necrotizing Pneumonia
Respiratory failure ORPHA:36238
Brain-Lung-Thyroid Syndrome
Short stature, Neonatal respiratory distress, Growth delay, Respiratory failure ORPHA:209905
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure ORPHA:542323
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
Loeys-Dietz Syndrome 1
Pectus carinatum, Retrognathia, Abnormal sternum morphology, Micrognathia, Malar flattening, Join... OMIM:609192
Adenylosuccinase Deficiency
Anteverted nares, Growth delay, Short nose, Prominent metopic ridge OMIM:103050
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Death in infancy,... OMIM:610505
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Short nose, Wide nasal bridge OMIM:619179
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pectus carinatum, Joint stiffness, Barrel-shaped chest, Deep palmar crease, Flexion contracture, ... ORPHA:505248
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration ORPHA:247691
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Growth delay, Respiratory failure ORPHA:3240
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:275761
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose OMIM:234050
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Gout, Death in childhood, Convex nasal ridge, Short stature, Short nose OMIM:300661
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Genitopatellar Syndrome
Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Hip contracture, K... OMIM:606170
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Osteomyelitis, Intrauterine growth retardation, Genu valgum, Bulbous nose, Ant... OMIM:619475
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Anteverted nares, Short stature... ORPHA:2282
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal rib morphology ORPHA:93941
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Short nose, Joint hypermobility ORPHA:293948
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:457077
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Hepatitis, Villous atrophy, Splenomegaly, Crohn's disease, Gastritis, Coliti... OMIM:619381
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Adenomatous colonic polyposis, Desmoid t... ORPHA:261584
Listeriosis
Stiff neck, Osteomyelitis, Septic arthritis, Respiratory failure, Miscarriage ORPHA:533
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Broad thumb, Lower limb asymmetry, P... ORPHA:857
Syndromic Diarrhea
Hepatic fibrosis, Intrauterine growth retardation, Villous atrophy, Abnormality of the liver, Spl... ORPHA:84064
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis, Bone cyst, Osteolysis ORPHA:2396
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic fibrosis, Cholestasis, Intrauterine growth retardation, Villous atrophy, Spl... OMIM:222470
Branchiooculofacial Syndrome
Depressed nasal bridge, Broad nasal tip, Short thumb, Preaxial hand polydactyly, Elbow flexion co... OMIM:113620
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Retrognathia, Persistence of primary teeth, Micrognathia, Prominence of ... ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Oeis Complex
Congenital hip dislocation, Talipes equinovarus, Absence of the sacrum, 11 pairs of ribs OMIM:258040
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Esophageal varix, E... ORPHA:84081
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:521219
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Mercury Poisoning
Respiratory failure ORPHA:330021
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Elevated circ... OMIM:617156
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose, Metopic synostosis OMIM:613735
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:613471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:252010
Combined Oxidative Phosphorylation Deficiency 58
Elevated circulating alkaline phosphatase concentration OMIM:620451
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Chondrocalcinosis, Osteomalacia OMIM:600740
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Diastasis recti, Cryptorchidism,... ORPHA:116
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology, Torticollis ORPHA:48818
Pseudo-Torch Syndrome 2
Thin ribs, Acute respiratory distress syndrome, Respiratory insufficiency OMIM:617397
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Cholestasis, Intrauterine growth retardation, Villous atrophy, Perianal derma... OMIM:619573
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Cryptorchidism, Meconiu... OMIM:617063
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Cryptorchidism, Tracheoesophageal fistula, Rectoperineal ... OMIM:107480
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus... OMIM:211380
Steinert Myotonic Dystrophy
Respiratory insufficiency, Shoulder girdle muscle weakness, Talipes equinovarus, Respiratory insu... ORPHA:273
Meckel Syndrome
Accessory spleen, Optic atrophy, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidis... ORPHA:564
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis ORPHA:90349
Coffin-Siris Syndrome 1
Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Congenital diaphragmatic... OMIM:135900
Pearson Syndrome
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Abnorma... ORPHA:699
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Growth delay, Rickets, Osteomalacia ORPHA:309031
Liver Disease, Severe Congenital
Protein-losing enteropathy, Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia,... OMIM:619991
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Wilson Disease
Chondrocalcinosis, Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Hyposmia, Ped... OMIM:277900
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Growth delay, Respiratory failure OMIM:617248
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Growth delay, Short nose ORPHA:96147
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni... OMIM:617052
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:94093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Respiratory failure, Respiratory failure requiring assisted vent... ORPHA:555874
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Cryptorchidism, Cleft palate OMIM:219000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia, Overgrowth ORPHA:254534
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:247598
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Depressed nasal tip, M... OMIM:610828
Molybdenum Cofactor Deficiency, Type B
Growth delay, Short nose, Neonatal death OMIM:252160
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Hypopituitarism, Decreased response to growth hormone stimulation test, Ex... ORPHA:811
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase level OMIM:137920
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Hepatosplenomegaly, Villous atrophy, Abnormal intestine morphology, Enterocolitis, Eso... ORPHA:391487
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:124000
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Respiratory failure ORPHA:340
Pontine Tegmental Cap Dysplasia
Rib fusion, Ankle clonus OMIM:614688
Gallbladder Neuroendocrine Tumor
Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of hepatic origin, Interm... ORPHA:100086
Estrogen Resistance
Elevated alkaline phosphatase of bone origin OMIM:615363
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Hepatitis, Celiac disease, Ulcerative co... ORPHA:171
Nocardiosis
Osteomyelitis, Respiratory failure ORPHA:31204
Bickerstaff Brainstem Encephalitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:79138
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures, Growth delay, Bone... ORPHA:3337
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit... OMIM:305100
Molybdenum Cofactor Deficiency, Type A
Growth delay, Short nose OMIM:252150
Plague
Inflammation of the large intestine, Splenomegaly, Ileitis, Enterocolitis, Hematemesis, Hepatomeg... ORPHA:707
Familial Hypocalciuric Hypercalcemia
Chondrocalcinosis, Osteomalacia ORPHA:405
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs OMIM:615287
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency ORPHA:646
Peroxisome Biogenesis Disorder 4B
Single transverse palmar crease, Short nose OMIM:614863
Tuberous Sclerosis Complex
Respiratory failure ORPHA:805
Pagod Syndrome
Short stature, Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology ORPHA:991
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Small bowel diverticula ORPHA:90348
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Malar flat... OMIM:229400
Penile Agenesis
Bilateral talipes equinovarus, Depressed nasal bridge, Short nose ORPHA:49
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin ORPHA:411634
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Short nose OMIM:606721

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 Ihh

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 Ihh.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ihhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ihhtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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