Gene: Sp8 MGI:2443471

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

trans-acting transcription factor 8

Synonyms:

mBtd, D930049B17Rik

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 Sp8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sp8 (0 diseases)
Human diseases predicted to be associated with Sp8 (1499 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sp8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acrodysostosis	Abnormal female external genitalia morphology, Open bite, Open mouth, Cryptorchidism, Bowing of t...	ORPHA:950
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Broad thumb, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epip...	OMIM:613091
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Microretrognathia, Broad thumb, Thick lower lip vermilion, Campto...	ORPHA:3080
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho...	ORPHA:945
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormal vertebral morphology, Tessier cleft, Short 5th finger, Abnormality of the vertebral colu...	OMIM:239800
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Abnormal form of the vertebr...	ORPHA:1327
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Cryptorchidism, Broad foot, Talipes, Short neck, Pes planus, Evert...	ORPHA:915
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Talipe...	OMIM:154400
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, ...	ORPHA:989
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn...	OMIM:251230
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Renal hypoplasi...	ORPHA:3258
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Cryptorchidism,...	OMIM:619135
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bo...	ORPHA:1106
Baller-Gerold Syndrome	Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, P...	OMIM:218600
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Broad hallux, Renal agenesis, Micrognathia, Malar flattening, Hypodontia, Radio...	OMIM:212780
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Hypertelorism, Ana...	OMIM:607323
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Dislocated radial head, Delayed ossification...	OMIM:602471
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Microretrognathia, Carious teeth, Hypopl...	ORPHA:1786
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Cervical kyphosis, Rhizomelia, Radial bowing, Tombstone-shaped proxima...	OMIM:108721
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Aplasia of the 1st metacarpal, Dental crowding, Eruption failure, L...	ORPHA:476126
Mosaic Trisomy 9	Elbow dislocation, Micrognathia, Cryptorchidism, Talipes equinovarus, Short neck, Hypertelorism, ...	ORPHA:99776
Teebi Hypertelorism Syndrome 2	Proptosis, Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Cleft palate, Everte...	OMIM:619736
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Mosaic Trisomy 14	Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Wide mouth, Cryptorchidism, Bilatera...	ORPHA:1703
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Renal hypoplasia/aplas...	ORPHA:958
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist...	ORPHA:1248
3M Syndrome	Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality of the elbo...	ORPHA:2616
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi...	OMIM:263650
Trisomy 4P	Hypospadias, Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, Radial club ...	ORPHA:1738
Malan Syndrome	Mandibular prognathia, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premax...	OMIM:614753
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Amelia, Bilateral clef...	OMIM:601357
Anophthalmia Plus Syndrome	Tessier cleft, Deviation of finger, Vertebral segmentation defect, Bilateral cleft palate, Spina ...	ORPHA:1104
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Radial deviation of the hand, Retrognathia, Short thumb, Microgna...	OMIM:227270
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
3Mc Syndrome 2	Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Downturned ...	OMIM:265050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,...	ORPHA:2256
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microglossia, Microretrognathia, Sandal gap, Short tibia, Short thumb, Radial c...	ORPHA:1972
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Cleft palate	ORPHA:2476
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Micrognathia, Apla...	OMIM:614083
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hydronephrosis...	OMIM:314390
Schisis Association	Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anencephaly, Cl...	ORPHA:63862
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Cryptorchidism, Humerora...	ORPHA:2879
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Omodysplasia 2	Limited elbow flexion, Micrognathia, Cryptorchidism, Hypertelorism, Dislocated radial head, Hypos...	OMIM:164745
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Abnormality of the urinary system, Deviation of finger, Narrow mouth,...	ORPHA:2412
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Cryptorchidism, Malar flattening, Single transverse palmar crease, B...	OMIM:101805
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Micrognathia, Deeply set eye, T...	ORPHA:233
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli...	ORPHA:952
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism, Talipes, Short neck, ...	ORPHA:261318
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cerv...	ORPHA:2345
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Unilateral cleft lip, Malar flattening, Brachydactyly...	ORPHA:1919
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Supernumerary vertebrae, Cleft upper lip, Short thumb,...	OMIM:263750
Ulnar Hemimelia	Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal...	ORPHA:93320
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short...	OMIM:118651
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head disl...	OMIM:602418
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Cryptorchidism, T...	OMIM:108720
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, High...	OMIM:619110
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:52
Chromosome 16Q22 Deletion Syndrome	Broad hallux, Micrognathia, Cryptorchidism, Single transverse palmar crease, Short neck, Hypertel...	OMIM:614541
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Renal agenesis, Hypogonadi...	OMIM:300514
Treacher-Collins Syndrome	Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Hyperteloris...	ORPHA:861
Hypoglossia-Hypodactylia	Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Split hand	OMIM:103300
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Intellectual Developmental Disorder, Autosomal Recessive 35	Downturned corners of mouth, Long philtrum, Clinodactyly, Micrognathia, Malar flattening, Thin up...	OMIM:615162
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Talipes equinovarus, Spina bifida	OMIM:211960
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Everted lo...	ORPHA:357175
Pde4D Haploinsufficiency Syndrome	Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Hypert...	ORPHA:439822
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mo...	OMIM:201170
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Abnormality of the vertebral column, Type A brachydactyly, Rad...	OMIM:112910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect	OMIM:615041
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Renal hy...	ORPHA:2166
Frontonasal Dysplasia 1	Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand, Anterior basa...	OMIM:136760
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg...	OMIM:201000
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias, Clinodactyly, Widely spaced teeth, Wide mouth, Micrognathia, Deeply set eye, Scoliosis	OMIM:300934
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Myelome...	ORPHA:2437
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Umbilical hernia, Intestinal malrot...	OMIM:115470
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, Hypertelorism, High palate, Accessory oral frenulum, Sy...	OMIM:252100
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft ...	ORPHA:1794
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Micromelia, Micrognathia, Encephalocele,...	ORPHA:1908
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Bilateral cle...	OMIM:614900
Marden-Walker Syndrome	Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipe...	OMIM:248700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cryptorchidism, Irregular dentition...	OMIM:602535
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Cryptorchidism, B...	OMIM:305400
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Brachydactyly, Convex nasal ridge, Mesomelia	ORPHA:1277
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryp...	ORPHA:85279
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Enlarged labia minora, Micrognath...	OMIM:268300
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha...	OMIM:241800
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Lower limb undergrowth...	OMIM:186500
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia, Penile hypospadias, Absent radius	OMIM:312190
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Ab...	ORPHA:1352
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, Anteriorly placed anus, ...	ORPHA:2319
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Micrognathia, Gingival overgrowth, Hyp...	ORPHA:2013
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Malar flattening, Ectopic anus, Aplasia/Hypoplasia of the distal pha...	ORPHA:94066
Van Den Ende-Gupta Syndrome	Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Dilatation of the renal pe...	OMIM:600920
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Talipes ...	ORPHA:1988
Pierpont Syndrome	Cryptorchidism, Broad foot, Deeply set eye, Short neck, Everted lower lip vermilion, Prominent su...	OMIM:602342
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Renal tubular dysfunction, Prominence of the premaxilla, Hydro...	OMIM:614886
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Proptosis, Abnormal form of the vertebral bodies, Malar flattening, Ab...	ORPHA:93262
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Abnormali...	OMIM:200980
Atelosteogenesis, Type Ii	Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap...	OMIM:256050
Acrofrontofacionasal Dysostosis 2	Broad thumb, Proptosis, Broad hallux, Bifid scrotum, Sacral dimple, Hand polydactyly, Shawl scrot...	OMIM:239710
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Slender finger, Cutaneous syndactyly of toes, Small hypothenar ...	ORPHA:2872
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Bilateral cleft palate, S...	OMIM:610829
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A...	ORPHA:971
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long p...	OMIM:615761
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Neu-Laxova Syndrome 2	Toe syndactyly, Proptosis, Finger syndactyly, Micrognathia, Short neck, Spina bifida, Hypertelori...	OMIM:616038
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the rad...	ORPHA:246
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ...	OMIM:143095
Charge Syndrome	Micrognathia, Cryptorchidism, Absent radius, Bilateral talipes equinovarus, Hypertelorism, Anal a...	OMIM:214800
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Irregular dentition, Tal...	OMIM:615546
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Acromelic Frontonasal Dysostosis	Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd...	OMIM:603671
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc...	ORPHA:90650
Seckel Syndrome 5	Clitoral hypertrophy, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Cry...	OMIM:613823
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Proptosis, Long philtrum...	ORPHA:90653
Triploidy	Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth, Cryptorchidism, Wide mouth...	ORPHA:3376
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, H...	OMIM:311300
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Micrognathia, Radial devia...	ORPHA:1388
Shox-Related Short Stature	Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb undergrowth, ...	ORPHA:314795
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Hip dislocation, Abnormal epiphysis morphology, Abnor...	ORPHA:3098
Van Bogaert-Hozay Syndrome	Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy...	OMIM:277150
Chondrodysplasia With Joint Dislocations, Gpapp Type	Patellar dislocation, Proptosis, Short toe, Knee dislocation, Genu valgum, Micrognathia, Narrow m...	OMIM:614078
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Cryptorchidism, Fibula...	OMIM:612447
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, ...	ORPHA:3169
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ...	ORPHA:166002
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Hypertelorism, Plantar pits, Vertebral wedging, P...	OMIM:109400
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Aplasia/Hypoplasia of the radius, Ren...	ORPHA:1307
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, Hypertelorism, High palate, Short foot, Short metacarpa...	OMIM:170390
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Micrognathia, Cryptorchidism...	ORPHA:1926
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Cryptorchidism, Abnormal ...	ORPHA:921
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Split foot, Abno...	ORPHA:1540
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal bon...	ORPHA:306542
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Narrow mouth, Cryptorchidism, Hypertelorism, Anal atresia, Hypospadias,...	ORPHA:94065
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me...	ORPHA:401942
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermili...	OMIM:137550
Pierpont Syndrome	Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Abnormality of the planta...	ORPHA:487825
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Ethmoi...	OMIM:607597
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Depressed nasal bridge, Toe syndactyly, Anteverted nares, Death in childhood, Hip contracture, De...	OMIM:616809
Holt-Oram Syndrome	Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Cleft soft p...	OMIM:142900
Unilateral Ocular Duplication	Encephalocele, Median cleft upper lip, Hypertelorism, Midline facial cleft, Cleft palate	ORPHA:3374
Seckel Syndrome 1	Ivory epiphyses, Clitoral hypertrophy, Micrognathia, Cryptorchidism, Talipes, Pes planus, Disloca...	OMIM:210600
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi...	ORPHA:1756
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Radioulnar synostosis, Absent radius, Ana...	OMIM:192350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Toe syndactyly, Renal agenesis, Long philtrum, Umbilical hernia, Micrognathia, ...	ORPHA:171839
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central...	ORPHA:66625
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Narrow vertebral interpedicular distance, Hypertelorism, Dislocated ...	OMIM:101800
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Narrow mouth, Cryptorchidism, Hypertelorism, Hypospadias, Cone-shaped epiphysis, Sh...	OMIM:618659
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short nec...	OMIM:305450
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
3Mc Syndrome 3	Tessier cleft, Clinodactyly, Bifid scrotum, Cleft upper lip, Sacral dimple, Preaxial polydactyly,...	OMIM:248340
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equino...	OMIM:611209
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cry...	ORPHA:1647
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Downturned corners of mouth, Non-midline cleft of the upper lip, Mi...	ORPHA:2075
Three M Syndrome 1	Short 5th finger, Hypospadias, Slender long bone, Long philtrum, Thick lower lip vermilion, Decre...	OMIM:273750
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Small hand, Sandal gap, Thick lower lip vermilion, Hypogonadism, Decreased...	OMIM:300354
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Hypertelo...	ORPHA:96097
Occipital Horn Syndrome	Humerus varus, Esophagitis, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip ...	ORPHA:198
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth, Occipital encephalocele	OMIM:614209
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Chordee,...	OMIM:166250
Ritscher-Schinzel Syndrome 1	Micrognathia, Missing ribs, Hydronephrosis, Hydrocephalus, Hemivertebrae, Hypertelorism, Anal atr...	OMIM:220210
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro...	OMIM:200990
Neu-Laxova Syndrome	Bifid uvula, Proptosis, Retrognathia, Micromelia, Hypogonadism, External genital hypoplasia, Micr...	ORPHA:2671
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Microgn...	ORPHA:2863
Recon Progeroid Syndrome	Dental crowding, Long thumb, Prominence of the premaxilla, Arachnodactyly, Smooth philtrum, Deepl...	OMIM:620370
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Renal hypoplasia, Narrow mouth, Split hand, Camptod...	OMIM:246560
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Arachnodactyly, Talipes...	OMIM:182212
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes...	ORPHA:2756
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Patellar dislocation, Short thumb, Sandal gap, Broad hallux, Lumb...	OMIM:618167
Intellectual Developmental Disorder, Autosomal Dominant 72	Renal hypoplasia, Deeply set eye, Thin upper lip vermilion, Smooth philtrum, Short neck, Spina bi...	OMIM:620439
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Bilateral cleft lip, Unicornuate uterus, Neural tube defect	OMIM:600776
Aicardi Syndrome	Precocious puberty, Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the prem...	OMIM:304050
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Hydrocephalus, Absent radius...	OMIM:602200
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
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Hypertelorism, Duplicated collecting system, Absent radius, Ectopic kidney, Absen...	OMIM:227646
Nail-Patella Syndrome	Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the femoral medi...	OMIM:161200
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Pes planus, Broad fingertip...	OMIM:212720
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Death in childhoo...	OMIM:618961
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate	ORPHA:2015
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Renal hypopla...	ORPHA:2753
1Q21.1 Microduplication Syndrome	Cryptorchidism, Talipes equinovarus, Hypertelorism, Hydrocephalus, Hip dysplasia, Hypospadias, Hi...	ORPHA:250994
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Downturned corners of mouth, Anteriorly placed anus, Clinodactyly, Proximal placement of thumb, M...	OMIM:217980
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate, Absent radius	OMIM:179400
Craniofrontonasal Dysplasia	Hypospadias, Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger...	ORPHA:1520
Endocrine-Cerebroosteodysplasia	Small scrotum, Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Cryptorchidi...	OMIM:612651
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Cervica...	OMIM:301900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Metaphyseal irregularity, Short femoral neck, Knee dislocation, Narrow vertebral i...	OMIM:618395
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Encephalocele, Irregular dentition, De...	OMIM:619148
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe	OMIM:176305
Keipert Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Broad distal phalanx of f...	ORPHA:2662
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Bowing of t...	ORPHA:2631
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,...	ORPHA:2639
Lower Limb Malformation-Hypospadias Syndrome	Lower limb asymmetry, Abnormal tibia morphology, Abnormality of the ureter, Short neck, Hypospadi...	ORPHA:2487
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Abnormal female external genitalia morphology, Micrognat...	ORPHA:235
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Crypt...	ORPHA:3082
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre...	ORPHA:63260
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p...	ORPHA:763
Tonne-Kalscheuer Syndrome	Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Decr...	OMIM:300978
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Chromosome 17P13.1 Deletion Syndrome	Long hallux, Arachnodactyly, Short neck, Everted lower lip vermilion, High palate, Short foot, Hi...	OMIM:613776
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Anterior concav...	OMIM:216340
Ulnar-Mammary Syndrome	Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger...	OMIM:181450
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Bilateral renal atrophy, Ankle swelling, Carpal osteolysis, Wrist swel...	OMIM:166300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan...	OMIM:618363
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Cri-Du-Chat Syndrome	Cryptorchidism, Short neck, Pes planus, Abnormality of the kidney, Hypertelorism, High palate, Hy...	OMIM:123450
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Mycophenolate Mofetil Embryopathy	Tessier cleft, Bifid thoracic vertebrae, Micrognathia, Orofacial cleft, Tracheoesophageal fistula...	ORPHA:268249
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Short toe, Micrognathia, Cryptorchidism, Malar flattening, Talipes equinovarus, Sho...	ORPHA:98791
Acrocephalopolydactyly	Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short long bone, Short nose	ORPHA:221054
Vacterl With Hydrocephalus	Absence of the sacrum, Retrognathia, Abnormal form of the vertebral bodies, Renal agenesis, Micro...	ORPHA:3412
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Flattened epiphysis, Hypertelorism, High palate, Flat acetabular roof, ...	ORPHA:163649
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Fractured radius, Unilateral cleft lip, Flared metaphysis, Decreased fibular diame...	OMIM:616897
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Hypertelorism, Oligod...	OMIM:616331
Aicardi Syndrome	Precocious puberty, Block vertebrae, Small hand, Cleft upper lip, Intestinal polyposis, Butterfly...	ORPHA:50
3C Syndrome	Finger syndactyly, Micrognathia, Short neck, Hypertelorism, Anal atresia, Hypospadias, High, narr...	ORPHA:7
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Deeply set eye, ...	OMIM:180849
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Micrognathia, Cryptorchidism, Displacement of the uret...	ORPHA:1752
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger...	ORPHA:391474
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Hyperplasia of the maxilla, Lumbar hyperlordos...	ORPHA:313892
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Hypospadias, Epispadias, Abnormal penis ...	ORPHA:2588
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Pes planus, Everted lower lip vermilion, Large hands, Hype...	ORPHA:192
Pfeiffer Syndrome	Hypoplasia of the maxilla, Broad thumb, Dental crowding, Finger syndactyly, Short middle phalanx ...	OMIM:101600
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Cryptorchidism, Encephalocele, Humeroradial synostosis, Limited elb...	OMIM:134780
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Long foot, Long palm, High palate, Scoliosis, K...	OMIM:300676
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Sacral dimple, Anencephaly, Pos...	OMIM:614175
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi...	OMIM:276820
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Overlapping fingers, Micrognathia, T...	ORPHA:1147
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Sy...	ORPHA:436003
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Deeply set eye, Short neck, Hypertelori...	OMIM:300882
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Cryptorchidism, Hypertelo...	OMIM:175700
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo...	ORPHA:1837
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Micrognathia, Cryptor...	OMIM:600325
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Macroglossia	ORPHA:1423
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis, Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger	ORPHA:2776
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Abnormality of the dentition, Nephrocalcinosis, Hydroureter, Downturned corners of mouth, Long ph...	OMIM:615398
Vacterl/Vater Association	Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Anal at...	ORPHA:887
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Hypertelorism, Anal atresia, Flat acetab...	OMIM:616300
Waardenburg Syndrome Type 1	Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Sc...	ORPHA:894
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis...	OMIM:620662
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Hypertelorism, Thoracolumbar kyphoscoliosis, Absent external genitalia...	ORPHA:1299
Renpenning Syndrome	High, narrow palate, Mandibular prognathia, Decreased testicular size, Macrodontia, Narrow mouth,...	ORPHA:3242
Chromosome 9P Deletion Syndrome	Dermatoglyphic variants, Micrognathia, Narrow mouth, Short neck, Pes planus, Hypertelorism, High ...	OMIM:158170
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Abnormal form of the vertebral bodies, Finger syndactyly,...	ORPHA:794
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Hypertelorism, High palate, Scoliosi...	OMIM:218000
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	Clinodactyly of the 5th finger, Hypospadias, Abnormal palate morphology	ORPHA:2261
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, Cam...	ORPHA:3201
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology...	ORPHA:1120
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces...	OMIM:258860
Spinal Muscular Atrophy, X-Linked 2	Micrognathia, Cryptorchidism, Micropenis, Scoliosis, Hypospadias, Degeneration of anterior horn c...	OMIM:301830
Iniencephaly	Rhizomelia, Spinal dysraphism, Absent vertebra, Rocker bottom foot, Renal agenesis, Myelomeningoc...	ORPHA:63259
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Finger syndactyly, Long philtrum, Campto...	ORPHA:178303
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mal...	OMIM:300244
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal...	OMIM:184705
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis, Malar prominence, Abnormal dental morphology, Micrognathia, Abnormal hip bone morpholo...	ORPHA:2522
Trisomy 18	Narrow mouth, Cryptorchidism, Bilateral single transverse palmar creases, Hypertelorism, Anal atr...	ORPHA:3380
Baller-Gerold Syndrome	Abnormality of the ureter, Micrognathia, Narrow mouth, Aplasia/Hypoplasia of the patella, Bowing ...	ORPHA:1225
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista...	OMIM:300863
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Proptosis, Abnormal dental enamel morphology, Abnormal dental morphology, Micr...	ORPHA:85199
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Short neck, Hypertelorism, Anal atresia, Cleft lip, Hamar...	OMIM:617925
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Tetrasomy 5P	Long philtrum, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Short hallux, Hydr...	ORPHA:3309
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Short neck, Hypertelorism, Short foot, Hypoplastic ili...	OMIM:607095
Lowry-Maclean Syndrome	High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Proptosis, Retrognathia, Downturned c...	ORPHA:2409
Split-Hand/Foot Malformation 1	Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala...	OMIM:183600
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle...	OMIM:601216
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Abnormal form of the vertebral bodies, Long philtrum, Abnormal morphology of female in...	ORPHA:2311
Cloacal Exstrophy	Ureterocele, Abnormal tibia morphology, Renal hypoplasia/aplasia, Talipes equinovarus, Abnormal f...	ORPHA:93929
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor...	ORPHA:2831
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Talipes equinovarus, Brachydactyly, Micropenis, Hypospadias, Short ...	OMIM:612626
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Aplastic clavicle, Delaye...	OMIM:620099
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Deeply set eye, Thoracolumbar scoliosis, Everted lower lip vermilion, Patellar subluxation, High ...	ORPHA:3041
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the dentition, Microretrognathia, Hypotelorism, Deeply set eye, Ambiguous genitali...	ORPHA:276422
Metatropic Dysplasia	Depressed nasal bridge, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecular...	ORPHA:2635
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Pes planus, Cervi...	ORPHA:508498
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Ankle flexion contracture, Dental crowding, Branchial cyst, Finger syndactyly, Crypt...	ORPHA:435938
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, Hypertelorism, High palate, Cleft palate, Synda...	OMIM:300484
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Mandibular prognathia, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral si...	ORPHA:1236
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypopla...	ORPHA:3107
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss...	ORPHA:83451
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of th...	ORPHA:337
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit...	ORPHA:2141
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Hypospadias, Cleft palate	OMIM:302905
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Umbilical hernia, Advanced tarsal ossification, Short ribs, Lim...	OMIM:269250
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Crouzon Syndrome	Hypoplasia of the maxilla, Proptosis, Hydrocephalus, Hypertelorism, Narrow palate, Abnormal sacru...	ORPHA:207
Blepharophimosis-Impaired Intellectual Development Syndrome	Cryptorchidism, Talipes equinovarus, Pes planus, Hypertelorism, Hypospadias, Thin upper lip vermi...	OMIM:619293
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narrow mouth, Malar flattening, Hypertelor...	ORPHA:261295
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Broad femoral neck, Retrognathia, Micrognathia, Cryptorchidism, Hypote...	OMIM:617164
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,...	ORPHA:628
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl...	ORPHA:2249
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Hypospadias, Bilateral single transverse palmar creases, Arachnodac...	ORPHA:1548
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Hypoplasia of p...	ORPHA:1816
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Limb undergrowth, Spina bifida o...	ORPHA:177
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Umbilical hernia, Anteverted nares, Genu valgum, Arachnodactyly, Convex n...	ORPHA:1035
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Microphallus, Bifid scrotum, Small placenta, Ectrodactyly, Micrognathia, Abnorm...	ORPHA:397590
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil...	OMIM:300280
Mesomelia-Synostoses Syndrome	High, narrow palate, Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Umbilical...	ORPHA:2496
Hallermann-Streiff Syndrome	High, narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, Slender long bon...	OMIM:234100
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Cryptorchidism, Absent radius, Dupli...	OMIM:227645
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Sandal gap, Intestinal malrotation, ...	OMIM:617602
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Odontochondrodysplasia	Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Death in infancy, ...	ORPHA:166272
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-shaped epiph...	ORPHA:397973
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic ...	OMIM:265000
Stankiewicz-Isidor Syndrome	Absent thumb, Retrognathia, Short thumb, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Shawl ...	OMIM:617516
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Diastema, Decreased testicular size, F...	OMIM:300534
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Proptosis, Abnormality of the vertebral column, Malar flattening, Hydr...	OMIM:109120
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Absent frontal sinuses, Bowing of the long ...	ORPHA:955
Facial Clefting, Oblique, 1	Cleft upper lip, Talipes calcaneovalgus, Tessier number 4 facial cleft, Deep palmar crease, Cleft...	OMIM:600251
Cerebrocostomandibular Syndrome	Hydranencephaly, Multicystic kidney dysplasia, Myelomeningocele, Micrognathia, Short hard palate,...	ORPHA:1393
Acrocallosal Syndrome	Cryptorchidism, Triphalangeal thumb, Hypertelorism, Postaxial hand polydactyly, Hypospadias, Wide...	ORPHA:36
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Abnormality of the ureter, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Thin...	ORPHA:1046
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cone-shaped epiphysis, Spinal canal stenosis, Malar flattening, Cryptorchidism, Brac...	OMIM:614613
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Depressed nasal bridge, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Fla...	ORPHA:1427
Fraser Syndrome 1	Clitoral hypertrophy, Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Cryptorchid...	OMIM:219000
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Urethral s...	OMIM:617063
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen...	OMIM:112800
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Renal cyst, Gonadal dysgenesis, male, Hypospadias, Cleft palate	OMIM:231060
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Hypertelorism, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, Hypertelorism, Dislocated radial ...	OMIM:612350
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Syringomyelia, Spina bifida, Hydrocep...	OMIM:207950
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Micrognathia, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, A...	ORPHA:93316
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowding, Renal hypop...	ORPHA:37553
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Ambiguous genitalia, female, Deformed humerus, Micrognathia, Mandib...	ORPHA:2975
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, Elbow ankylosis, Hypertelorism...	ORPHA:2658
Cohen Syndrome	Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fetal Trimethadione Syndrome	Micrognathia, Bilateral single transverse palmar creases, Ambiguous genitalia, High palate, Scoli...	ORPHA:1913
Harrod Syndrome	Hypospadias, Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Dental maloccl...	ORPHA:2115
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia...	OMIM:215045
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous fin...	OMIM:224690
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Talipes, Radioulnar synostosis, Pes ...	ORPHA:10
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Hyperexten...	OMIM:231070
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Protruding tongue, Cryptorchidism, Absent frontal sinuses, Talipes equinovarus, Hyp...	OMIM:301040
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Open mouth, Cryptorchidism, Pes ...	ORPHA:93932
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Encephalocele, Split hand, ...	ORPHA:2117
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing...	ORPHA:464738
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, H...	ORPHA:79345
48,Xyyy Syndrome	Male hypogonadism, Long philtrum, Thick lower lip vermilion, Dislocated radial head, Abnormal foo...	ORPHA:99329
Lambert Syndrome	Talipes equinovarus, Wide mouth, Hypospadias, Malar flattening	OMIM:245550
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal...	ORPHA:3246
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ...	OMIM:617102
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly...	ORPHA:95699
Chromosome 6Q11-Q14 Deletion Syndrome	Long philtrum, Umbilical hernia, Bilateral cryptorchidism, Micrognathia, Pes cavus, Single transv...	OMIM:613544
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnorma...	ORPHA:2673
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Broad hallux, Long philtrum, Thoracic kyphoscoliosis, Ara...	ORPHA:481152
Frank-Ter Haar Syndrome	Genu recurvatum, Mandibular prognathia, Delayed eruption of teeth, Umbilical hernia, Camptodactyl...	ORPHA:137834
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Renal hypoplasia/apla...	ORPHA:2092
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio...	OMIM:222600
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyse...	OMIM:620269
Shprintzen-Goldberg Syndrome	High, narrow palate, Hypoplasia of the maxilla, Proptosis, Retrognathia, Abnormal form of the ver...	ORPHA:2462
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Amish Lethal Microcephaly	Micrognathia, Organic aciduria, Cleft soft palate, Spina bifida	ORPHA:99742
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Micrognathia, Narrow mouth, Renal hypoplasia/apl...	ORPHA:1234
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption...	ORPHA:50814
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ...	ORPHA:2369
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Broad distal phalanx of finger, Widely-spaced maxillary central incisors, Micrognathia, Wide mout...	ORPHA:363686
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Hypoplastic labia majora, Short neck, Dislocated radial head, High ...	OMIM:122470
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Hypoplastic ilia, Micromelia, Clubbing of fingers, Broad long bones, Micrognat...	ORPHA:1865
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Vesicoureteral reflux, B...	OMIM:614261
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Hypertelorism, High palate, ...	OMIM:211380
Hajdu-Cheney Syndrome	Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Fibular bowing, Absent frontal sinuses, ...	OMIM:102500
Nablus Mask-Like Facial Syndrome	Joint contracture of the hand, Clinodactyly, Narrow mouth, Cryptorchidism, Short neck, Short hall...	OMIM:608156
Marden-Walker Syndrome	Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Arachnodactyl...	ORPHA:2461
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral c...	OMIM:610828
Acrootoocular Syndrome	Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate...	ORPHA:2980
Radial-Renal Syndrome	Unilateral renal agenesis, Absent thumb, Ectopic kidney, Absent radius	OMIM:179280
19P13.12 Microdeletion Syndrome	Precocious puberty, Toe clinodactyly, Proptosis, Finger syndactyly, Long philtrum, Sandal gap, De...	ORPHA:254346
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Streak ovary, Micrognathia, Overlapping fingers, Radi...	ORPHA:798
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism...	ORPHA:3103
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Retrognathia, Furrowed tongue, Tented upper lip vermilion, Single transvers...	OMIM:616449
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Lambert Syndrome	Branchial anomaly, Wide mouth, Hypospadias, Malar flattening	ORPHA:1296
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Proptosis, In...	ORPHA:93259
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Depressed nasal bridge, Radial bowing, Severe ...	OMIM:151210
Distal Deletion 10P	Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Polycystic ovaries, Ect...	ORPHA:1580
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Overlapping toe, Cryptorchidism, Talipes equinovarus, Short neck, Pes planus, Hyp...	OMIM:601808
Temple Syndrome	Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Decreased testicular size, Micrognathi...	OMIM:616222
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hand clenching, Elbow dislocation, Open bite, Cryptorchidism, Arachnodactyly, High palate, Hyposp...	OMIM:620083
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Deeply set eye, ...	OMIM:608154
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Large...	ORPHA:96334
Ruvalcaba Syndrome	Small hand, Micromelia, Underdeveloped nasal alae, Narrow nose, Short foot, Short metatarsal, Sho...	OMIM:180870
Achondroplasia	Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Anteverted nares, Trident hand, Narr...	ORPHA:15
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Foot polydactyly, Vertebral segmentation defect, Median cleft upper lip, Aplasia/Hypopl...	ORPHA:3186
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction,...	OMIM:300266
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Hydroureter, Micrognathia, Delayed eruption of primar...	OMIM:616367
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Broad thumb, Proptosis, Finger syndactyly, Bifid scrotum, Long philtru...	ORPHA:2211
Arthrogryposis, Distal, Type 3	Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, ...	OMIM:114300
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depressed nasal bridge...	ORPHA:85166
Fryns Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Short neck, Hypertelorism, Anal atres...	ORPHA:2059
Atelosteogenesis Type Ii	Wide nasal base, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bilateral cleft palat...	ORPHA:56304
Koolen-De Vries Syndrome	Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Hypospadias, Hip dislocation, High, ...	ORPHA:96169
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Ce...	OMIM:187601
Otoonychoperoneal Syndrome	Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Hip contra...	OMIM:259780
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Chordee, Diap...	OMIM:151050
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Brachydactyly, Acromesomelia	ORPHA:40
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velo...	ORPHA:363444
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low...	ORPHA:93356
Distal Monosomy 7Q36	Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Symphalangism affecting...	ORPHA:1636
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Rubinstein-Taybi Syndrome 2	Talon cusp, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Intesti...	OMIM:613684
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Broad foot, Limited elb...	OMIM:261540
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Limb undergrowth, Diaphyseal und...	ORPHA:1803
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hypoplasia of the maxilla, Anal stenosis, Umbilical hernia, Cryptorchidism, Microdon...	OMIM:601499
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Bowing o...	OMIM:614815
Larsen-Like Syndrome	Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Kyphoscoliosis, Talipe...	OMIM:608545
Jacobsen Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Tal...	ORPHA:2308
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Long philtrum, Ectrodactyly, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Preaxi...	ORPHA:93271
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Cl...	OMIM:617877
Holoprosencephaly	Cryptorchidism, Encephalocele, Deeply set eye, Talipes, Short neck, Hypertelorism, Cyclopia, Holo...	ORPHA:2162
49,Xxxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Renal hypoplasia/apla...	ORPHA:96264
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Crouzon Syndrome	Hypoplasia of the maxilla, Dental crowding, Proptosis, Abnormality of the cervical spine, Shallow...	OMIM:123500
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Duplicated collecting system, Postaxial foot polydactyly, Retrognathia, Talipes equin...	OMIM:301056
X-Linked Intellectual Disability, Sutherland-Haan Type

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