Gene: Rspo2 MGI:1922667

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

R-spondin 2

Synonyms:

ftls, 2610028F08Rik

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 Rspo2 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 Rspo2 (3 diseases)
Human diseases predicted to be associated with Rspo2 (2509 diseases)

The table below shows human diseases associated to Rspo2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Tetraamelia Syndrome 2	Low-set ears, Micropenis, Ankyloglossia, Cleft palate, Microretrognathia, Bilateral cleft lip, Gl...	OMIM:618021
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Anal atresia, Aplasia/Hypoplasia involving the pelvis, Missing r...	ORPHA:3301
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Hypoplastic ...	OMIM:618022

The table below shows human diseases predicted to be associated to Rspo2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala...	OMIM:135750
Acheiropodia	Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A...	ORPHA:931
Mesomelic Dysplasia, Savarirayan Type	Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl...	ORPHA:85170
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod...	OMIM:246570
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication	OMIM:188740
Acheiropody	Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m...	OMIM:200500
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ...	OMIM:228930
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand	OMIM:228250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ...	OMIM:113310
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ...	ORPHA:488191
Acromesomelic Dysplasia 2B	Deviation of finger, Absent toe, Short metatarsal, Rhizomelia, Short metacarpal, Patellar disloca...	OMIM:228900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Retrognathia, Abnormal metaphysis mor...	ORPHA:2631
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent...	OMIM:119100
Acromesomelic Dysplasia 2C	Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ...	OMIM:201250
Acromesomelic Dysplasia 2A	Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Death in infancy, Short digit...	OMIM:200700
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Fibular aplasia, Abnormal foot m...	OMIM:605274
Radial Hemimelia	Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma...	ORPHA:93321
Brachydactyly, Type A4	Type A brachydactyly, Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middl...	OMIM:112800
Osebold-Remondini Syndrome	Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia...	OMIM:112910
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Cleft hard palate, Dislocated radial head,...	ORPHA:166016
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Cleft palate, Tapered finger, Glossoptosis, Micrognathia, Pierre-...	OMIM:311895
Syndactyly Type 4	Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo...	ORPHA:93405
Faciocardiomelic Dysplasia, Lethal	Single transverse palmar crease, Retrognathia, Short thumb, Hypoplasia of the radius, Radial devi...	OMIM:227270
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand	ORPHA:1118
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Hip dislocation, Absent radius, Genu varum, Phocomelia, Horseshoe kidn...	ORPHA:3320
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Knee flexion contracture, Unilateral wrist flexion contracture, Micrognathi...	OMIM:616531
Rubinstein-Taybi Syndrome 2	Thick eyebrow, Broad thumb, Narrow palate, Highly arched eyebrow, Carious teeth, Hirsutism, Short...	OMIM:613684
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Micrognat...	ORPHA:971
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Bowing of the long bones, Abnormality of the lower limb, Abnormal...	ORPHA:1040
Orofaciodigital Syndrome Type 10	Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o...	ORPHA:2756
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short 5th finger, Aplasia/Hypoplasia of...	ORPHA:52056
Acromesomelic Dysplasia 3	Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L...	OMIM:609441
Atelosteogenesis, Type Ii	Scoliosis, Short greater sciatic notch, Cleft palate, Lacunar halos around chondrocytes, Malar fl...	OMIM:256050
Laurin-Sandrow Syndrome	Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas...	ORPHA:2378
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease	OMIM:218550
Langer Mesomelic Dysplasia	Hypoplasia of the radius, Short tibia, Mesomelia, Micrognathia, Short femoral neck, Madelung defo...	OMIM:249700
Fibular Hemimelia	Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia...	ORPHA:93323
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Abnormal palate morphology, Synophrys, Short metatarsal, Short metacarpal, Thic...	ORPHA:1278
Trichorhinophalangeal Syndrome, Type I	Protruding ear, Coxa magna, Short metatarsal, Osteoarthritis, Narrow palate, Slow-growing hair, C...	OMIM:190350
Zechi-Ceide Syndrome	Oligodontia, Short distal phalanx of finger, Long foot, Conductive hearing impairment, Thick hair...	ORPHA:217017
Familial Hyperprolactinemia	Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst	ORPHA:397685
Lethal Faciocardiomelic Dysplasia	Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t...	ORPHA:1972
Ring Chromosome 4 Syndrome	Abnormal morphology of ulna, Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the...	ORPHA:1447
Microphthalmia With Limb Anomalies	Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr...	OMIM:206920
Leri-Weill Dyschondrosteosis	Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca...	OMIM:127300
Trichorhinophalangeal Syndrome, Type Iii	Short finger, Protruding ear, Avascular necrosis of the capital femoral epiphysis, Coxa magna, Sh...	OMIM:190351
Boomerang Dysplasia	Fibular aplasia, Hypoplastic iliac body, Absent radius	OMIM:112310
Odontotrichoungual-Digital-Palmar Syndrome	Single transverse palmar crease, Short distal phalanx of finger, Nail dystrophy, Short first meta...	OMIM:601957
Jackson-Weiss Syndrome	Broad metatarsal, Abnormal palate morphology, Abnormality of fibula morphology, Short metatarsal,...	ORPHA:1540
Brachydactyly, Type E2	Oligodontia, Short metatarsal, Short metacarpal, Delayed eruption of teeth, Brachydactyly	OMIM:613382
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger...	OMIM:612576
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Camptodactyly, Retrognathia, Flexion contracture, Distal arthrogryposis, Protruding ...	OMIM:617468
Multiple Epiphyseal Dysplasia Type 4	Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar...	ORPHA:93307
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Mesomeli...	ORPHA:2632
46,Xx Testicular Difference Of Sex Development	Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia	ORPHA:393
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ...	ORPHA:1986
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Synophrys, Bilateral sensorineural hearing impairment, Deep philtrum, Talon cusp, Short...	OMIM:605282
Zechi-Ceide Syndrome	Short distal phalanx of finger, Oligodontia, Long foot, Malar flattening, Short metatarsal, Cleft...	OMIM:612916
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,...	ORPHA:2141
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac w...	OMIM:184260
Acromesomelic Dysplasia, Grebe Type	Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia invo...	ORPHA:2098
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo...	OMIM:171480
Tibial Hemimelia	Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle...	ORPHA:93322
Eiken Syndrome	Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ...	OMIM:600002
Acrofacial Dysostosis Syndrome Of Rodriguez	Single transverse palmar crease, Oligodactyly, High palate, Low-set ears, 11 pairs of ribs, Overl...	OMIM:201170
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Absent radius, Cleft palate	OMIM:179400
Eiken Syndrome	Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Trichorhinophalangeal Syndrome Type 1	High palate, Abnormality of the dentition, Short distal phalanx of finger, Camptodactyly of finge...	ORPHA:77258
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ...	OMIM:616300
Tibial Aplasia-Ectrodactyly Syndrome	Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,...	ORPHA:3329
Radial-Renal Syndrome	Ectopic kidney, Absent thumb, Unilateral renal agenesis, Absent radius	OMIM:179280
Microphthalmia With Limb Anomalies	Hip dislocation, Abnormal eyebrow morphology, Horseshoe kidney, Short tibia, Abnormality of the u...	ORPHA:1106
Omodysplasia 2	Short humerus, Micropenis, Posteriorly rotated ears, Dislocated radial head, Broad femoral neck, ...	OMIM:164745
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, H...	ORPHA:2634
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones	OMIM:165590
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Elbow dislocation, Coxa valga, Mesomelia, Radioulnar dislocat...	OMIM:164900
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Pseudopseudohypoparathyroidism	Short neck, Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption...	OMIM:612463
Ventriculomegaly With Defects Of The Radius And Kidney	Forearm undergrowth, Absent radius, Horseshoe kidney, Ectopic kidney, Ureteral duplication, Absen...	OMIM:602200
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Bilateral single transverse palmar creases, Carious teeth, Clinodac...	ORPHA:1094
Desbuquois Dysplasia 1	Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A...	OMIM:251450
Andersen Cardiodysrhythmic Periodic Paralysis	Oligodontia, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, Short phalanx of finge...	OMIM:170390
Diamond-Blackfan Anemia 11	Unilateral radial aplasia, Unilateral renal agenesis, Forearm reduction defects, Radioulnar synos...	OMIM:614900
Catel-Manzke Syndrome	Chronic otitis media, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness...	ORPHA:1388
Symbrachydactyly Of Hands And Feet	Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb...	ORPHA:1570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Micropenis, Short tibia, Short femur, Narrow mouth, Thin vermilion border, Hypoplasia of the ulna...	OMIM:612447
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A...	ORPHA:1837
Holt-Oram Syndrome	Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius...	OMIM:142900
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp...	ORPHA:2639
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Hip dislocation, Bifid uvula, Proximal placement of thumb, Short thum...	OMIM:268305
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Low-set ears, Limb undergrowth, Postaxial p...	OMIM:617102
Pyle Disease	Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron...	OMIM:265900
Pallister-Hall-Like Syndrome	Postaxial foot polydactyly, Hip dislocation, Micropenis, Short ribs, Pulmonary hypoplasia, Occipi...	OMIM:241800
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan...	ORPHA:63442
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg...	ORPHA:2972
Seckel Syndrome 1	Hip dislocation, Selective tooth agenesis, Cleft palate, Single transverse palmar crease, 11 pair...	OMIM:210600
Pierre Robin Syndrome	Pierre-Robin sequence, Glossoptosis, Micrognathia, Cleft palate	OMIM:261800
Congenital Radioulnar Synostosis	Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi...	ORPHA:3269
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Short tibia, Pseudoarthrosis	OMIM:156230
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ...	ORPHA:2019
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Abnormal pinna morphology, Cleft palate, Narrow mouth, Microretrognat...	OMIM:246560
Acrodysostosis	Open mouth, Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpa...	ORPHA:950
Pde4D Haploinsufficiency Syndrome	Short metatarsal, Hearing impairment, Short toe, Short phalanx of finger, Cone-shaped epiphysis, ...	ORPHA:439822
Ulnar Hypoplasia	Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ...	OMIM:191440
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Short middle phalanx of the 5th finger, Thin vermilion border, Flared me...	OMIM:156510
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Irregular dentition, Abnormal mandible morphology, Median cleft lip, Abnormal maxilla m...	ORPHA:401942
Léri-Weill Dyschondrosteosis	Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi...	ORPHA:240
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Microgn...	ORPHA:3104
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uterus, Cleft palate, Azoospermia, B...	OMIM:601076
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Micrognathia, Cleft palate	OMIM:172880
Tibial Hemimelia	Absent tibia	OMIM:275220
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft palate, High anterior hairline, Single transverse palmar crease, C...	ORPHA:915
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormality of the neck, Abnormal hip bone morphology, Syndactyly, Upper limb phocom...	ORPHA:294975
Lethal Congenital Contracture Syndrome 11	Camptodactyly, Retrognathia, Bilateral talipes equinovarus, Distal arthrogryposis, Pulmonary hypo...	OMIM:617194
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr...	OMIM:119800
Acro-Renal-Mandibular Syndrome	High palate, Aplasia/Hypoplasia of the tongue, Hip dislocation, Rudimentary fibula, Low-set, post...	ORPHA:958
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Atelosteogenesis, Type I	Clubbing, Short metatarsal, Rhizomelia, Cleft palate, Knee dislocation, Fibular aplasia, Multinuc...	OMIM:108720
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Primary amenorrhea, Unilateral renal agenesis, Cleft palate, Cleft up...	OMIM:244200
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat...	ORPHA:1856
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft pal...	ORPHA:141152
Phocomelia, Schinzel Type	Aplasia of the ulna, Foot oligodactyly, Anal atresia, Aplasia/Hypoplasia of the sacrum, Aplasia/H...	ORPHA:2879
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Aplasia/Hypoplasia of t...	ORPHA:1275
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long...	OMIM:118651
Bowen-Conradi Syndrome	Camptodactyly of finger, Joint stiffness, Death in infancy, Rocker bottom foot, Micrognathia, Abn...	ORPHA:1270
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Low-set ears, Redundant neck skin, Cystic hygroma, Hydranencepha...	OMIM:236500
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Renal agenesis, Unilateral cryptorchidism	OMIM:219050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hip dislocation, Proximal placement of thumb, Horseshoe kidney, Short metatarsal, Preaxial foot p...	OMIM:609945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Webbed neck, Short phalanx of finger, ...	OMIM:612350
Isolated Pierre Robin Syndrome	Glossoptosis, Micrognathia, Cleft palate	ORPHA:718
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar...	ORPHA:363417
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Cleft palate, Micropenis, Short neck, Pulmonary hypoplasia, Low posterior hairline, ...	OMIM:617925
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Short thumb, Horseshoe kidney, Patellar dislocation, Cleft palate, Carpal synost...	OMIM:274000
Cohen Syndrome	Single transverse palmar crease, Open mouth, Narrow palm, Short metatarsal, Short metacarpal, Thi...	OMIM:216550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postaxial polydactyl...	OMIM:613091
Radial Aplasia, X-Linked	Anal atresia, Penile hypospadias, Absent radius	OMIM:312190
Orofaciodigital Syndrome Viii	High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip	OMIM:300484
Orofaciodigital Syndrome Vi	Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul...	OMIM:277170
Fibrochondrogenesis 1	Posterior vertebral hypoplasia, Rhizomelia, Broad long bones, Cleft palate, Narrow mouth, Joint c...	OMIM:228520
Cri-Du-Chat Syndrome	Bifid uvula, Short metatarsal, Hearing impairment, Single transverse palmar crease, Thick lower l...	OMIM:123450
Endove Syndrome, Limb-Only Type	Hydronephrosis, 3-4 finger syndactyly, Vesicoureteral reflux, Triangular tibia, Disproportionate ...	OMIM:619217
Arthrogryposis, Distal, Type 1C	Camptodactyly of finger, Bifid uvula, Rocker bottom foot, Cleft palate, Metacarpophalangeal joint...	OMIM:619110
Atelosteogenesis Type Iii	Club-shaped distal femur, Ulnar deviation of the wrist, Abnormality of the humerus, Hip dislocati...	ORPHA:56305
Cousin Syndrome	Rhizomelia, Cleft palate, Fibular aplasia, Microglossia, Facial hirsutism, Joint contracture of t...	OMIM:260660
Microcephaly-Micromelia Syndrome	Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Neonatal death, Micr...	OMIM:251230
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius	ORPHA:1122
Osteoglophonic Dysplasia	Camptodactyly of finger, Short thumb, Rhizomelia, Short metatarsal, Broad thumb, Increased suscep...	OMIM:166250
Lethal Osteosclerotic Bone Dysplasia	Dyspnea, Retrognathia, Median cleft lip and palate, Gingival fibromatosis, Delayed cranial suture...	ORPHA:1832
Microphthalmia, Syndromic 12	Retrognathia, Pulmonary hypoplasia, Neonatal death, Cleft palate, Micrognathia, Intestinal malrot...	OMIM:615524
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Multiple impacted teet...	OMIM:113300
Frontometaphyseal Dysplasia	Oligodontia, Short distal phalanx of finger, Camptodactyly of finger, Bifid uvula, Pes cavus, Sho...	ORPHA:1826
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Retrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shor...	OMIM:249710
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit...	OMIM:602418
Spondyloperipheral Dysplasia	Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l...	OMIM:271700
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Decreased fertility, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hyp...	ORPHA:1643
Fowler Urethral Sphincter Dysfunction Syndrome	Oligomenorrhea, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urinary incontin...	ORPHA:2795
Acrocapitofemoral Dysplasia	Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ...	OMIM:607778
Smith-Mccort Dysplasia 2	Broad metatarsal, Limited elbow extension, Pes planus, Short neck, Flattened epiphysis, Short met...	OMIM:615222
Frontonasal Dysplasia 1	Median cleft palate, Clinodactyly, Camptodactyly, Low-set ears, Conductive hearing impairment, Hy...	OMIM:136760
17Q21.31 Microduplication Syndrome	High palate, Abnormality of the dentition, Generalized hirsutism, Malar flattening, Synophrys, Th...	ORPHA:217340
Congenital Arthrogryposis With Anterior Horn Cell Disease	High palate, Scoliosis, Retrognathia, Hip dysplasia, Respiratory insufficiency due to muscle weak...	OMIM:611890
Campomelic Dysplasia	Hydronephrosis, Tracheomalacia, Low-set ears, Hip dislocation, Hypoplastic inferior ilia, Short n...	ORPHA:140
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Low-set ears, Genu varum, Malar flattening, Metaphyseal cupping, ...	ORPHA:85166
Campomelic Dysplasia	Shortening of all phalanges of the toes, Hip dislocation, Recurrent lower respiratory tract infec...	OMIM:114290
Pseudohypoparathyroidism, Type Ia	Short finger, Short neck, Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Su...	OMIM:103580
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Broad thumb, Type B brachydactyly, Renal...	ORPHA:1471
Czeizel-Losonci Syndrome	Hypoplastic nipples, Single transverse palmar crease, Hydronephrosis, Low-set, posteriorly rotate...	ORPHA:2437
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Cleft palate, Fibular aplasia, Overfolded helix, Webbed neck, Cleft upper lip, Multi...	OMIM:300373
Atelosteogenesis Type Ii	Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr...	ORPHA:56304
Acrodysostosis 2 With Or Without Hormone Resistance	Malar flattening, Short metatarsal, Mandibular prognathia, Advanced ossification of carpal bones,...	OMIM:614613
Distal Limb Deficiencies-Micrognathia Syndrome	Oligodactyly, Cleft palate, Narrow mouth, Microglossia, Abnormal morphology of ulna, Proteinuria,...	ORPHA:1307
Disorganization, Mouse, Homolog Of	Hand polydactyly, Hip dislocation, Cleft palate, Limb duplication, Cleft upper lip	OMIM:223200
Otopalatodigital Syndrome Type 2	Oligodontia, Camptodactyly of finger, Short thumb, Cleft palate, Hearing impairment, Narrow mouth...	ORPHA:90652
Atelosteogenesis, Type Iii	Elbow dislocation, Tombstone-shaped proximal phalanges, Widened distal phalanges, Malar flattenin...	OMIM:108721
Brachydactyly Type C	Ulnar deviation of finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Type C bra...	ORPHA:93384
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Hydronephrosis, Hand polydactyly, Esophageal atresia, Absent radius, Enlarged kidn...	OMIM:314390
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Abnormal distal phalanx morphology of finger, Craniofacial hyperostosis, Aplasia/Hypoplasia of th...	ORPHA:2725
Perching Syndrome	Camptodactyly, Scoliosis, High palate, Respiratory distress, Cyanosis	OMIM:617055
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Low-set ears, Retrognathia, Short neck, Metaphyseal widening, Ulnar ...	OMIM:263210
Heart-Hand Syndrome Type 2	Abnormality of the humerus, Hand polydactyly, Abnormal palate morphology, Abnormality of the dent...	ORPHA:1350
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla	ORPHA:2776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Multiple prenatal fractures, Cleft palate, Decreased skull ossification, We...	OMIM:616897
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Ureteral atresia, Unilateral renal agenesis, Death in infancy, Short long bone, Talipes equinovar...	OMIM:618845
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Unilateral renal agenesis, Cleft palate	OMIM:601355
Invasive Mole	Menometrorrhagia	ORPHA:99925
Maxillonasal Dysplasia	Short distal phalanx of finger, Tooth agenesis, Mandibular prognathia, Microdontia, Cleft palate,...	ORPHA:1248
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Camptodactyly of finger, Patchy alopecia, Protruding ear, Tapered finger, Short palm...	ORPHA:85279
Cleft Lip/Palate	Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ...	ORPHA:199306
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Thick eyebrow, Hearing impairment, Delayed eruption of teeth, Gingi...	ORPHA:2222
Aase-Smith Syndrome	Camptodactyly of finger, Joint stiffness, Trismus, Abnormal pinna morphology, Abnormal hip bone m...	ORPHA:916
Weismann-Netter Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo...	ORPHA:3344
Nager Syndrome	Abnormal palate morphology, Phocomelia, Sparse lower eyelashes, Abnormality of the lower limb, Un...	ORPHA:245
Short Stature, Dauber-Argente Type	Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Delayed erupt...	OMIM:619489
Catifa Syndrome	Camptodactyly, Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of tee...	OMIM:618761
Moebius Syndrome	Bifid uvula, Lower limb undergrowth, Aplasia/Hypoplasia involving the metacarpal bones, Hand clen...	OMIM:157900
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Abnormal intestine morphology...	ORPHA:3080
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Horseshoe kidney, Endometrio...	OMIM:613680
Duane-Radial Ray Syndrome	Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia of t...	OMIM:607323
Orofaciodigital Syndrome Iv	Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia...	OMIM:258860
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Fanconi Anemia, Complementation Group U	Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the radius, Absent thumb, Absent scap...	OMIM:617247
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Neonatal epiphyseal stippling, Short metatarsal, Mandibular prognathia, S...	OMIM:101800
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Jackson-Weiss Syndrome	Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis...	OMIM:123150
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Submucous cleft hard palate, Short 4th m...	ORPHA:3201
Kinsship Syndrome	Hip dislocation, Polydactyly, Horseshoe kidney, Ankyloglossia, Widely spaced teeth, Smooth philtr...	OMIM:619297
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Hydroureter, Alopecia, Ever...	OMIM:616367
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the...	OMIM:256200
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Abnormality of the middle ear ossicles, Trismus, Mixed hearing im...	OMIM:609166
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Polycystic ovaries, Abn...	ORPHA:2228
Metaphyseal Chondrodysplasia, Spahr Type	Metaphyseal chondrodysplasia, Abnormality of the dentition, Short lower limbs, Abnormal metaphysi...	ORPHA:2501
Cranioectodermal Dysplasia 1	Broad distal phalanges of all fingers, Short distal phalanx of finger, Protruding ear, Flattened ...	OMIM:218330
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Cleft palate, Micromelia, Narrow mouth, Hirsutism, Bowing of the legs, Short ne...	ORPHA:1865
Van Maldergem Syndrome 1	Cutaneous finger syndactyly, Camptodactyly, Conductive hearing impairment, Irregular dentition, M...	OMIM:601390
Mohr Syndrome	Partial duplication of the phalanges of the hallux, Cleft palate, Preaxial foot polydactyly, Meta...	OMIM:252100
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, Down-sloping shoulders, High palate, Camptodactyly of finger, Ca...	OMIM:114300
Raine Syndrome	Protruding ear, Hydroureter, Cleft palate, Micromelia, Narrow mouth, Highly arched eyebrow, Subpe...	OMIM:259775
Boomerang Dysplasia	Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol...	ORPHA:1263
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Partial duplication of the distal phalanx of the hallux, Bifid uvula, Bifid dista...	ORPHA:2669
Arthrogryposis, Distal, Type 7	Hip dislocation, Distal arthrogryposis, Trismus, Deep philtrum, Micrognathia, Metatarsus adductus...	OMIM:158300
Van Maldergem Syndrome 2	Hypoplastic nipples, Hearing impairment, High anterior hairline, Cutaneous finger syndactyly, Con...	OMIM:615546
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Tented upper lip vermilion, Broad...	ORPHA:2662
Monosomy 5P	High palate, Low-set, posteriorly rotated ears, Abnormality of bone mineral density, Short neck, ...	ORPHA:281
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Diastema, Nonopposable triphalangeal thumb, Hypospadias	OMIM:179250
Short Stature-Wormian Bones-Dextrocardia Syndrome	Abnormality of the philtrum, High palate, Camptodactyly of finger, Tooth agenesis, Anal atresia, ...	ORPHA:2863
Tonne-Kalscheuer Syndrome	Micropenis, Malar flattening, Fine hair, Widely spaced teeth, Pulmonary hypoplasia, Narrow mouth,...	OMIM:300978
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Malar flatteni...	ORPHA:79113
Orofaciodigital Syndrome Xix	Narrow mouth, Narrow palate, Toe syndactyly, Cupped ear, Carious teeth, Lobulated tongue, Cleft s...	OMIM:620107
Distal Deletion 10Q	Hip dislocation, Hip dysplasia, Protruding ear, Horseshoe kidney, Short metatarsal, Cleft palate,...	ORPHA:96148
Auriculocondylar Syndrome 2	Low-set ears, Overfolding of the superior helices, Temporomandibular joint ankylosis, Posteriorly...	OMIM:614669
Cleidocranial Dysplasia	Chronic otitis media, Dystrophic toenail, Cleft palate, Hearing impairment, Supernumerary tooth, ...	ORPHA:1452
Split-Foot Deformity With Mandibulofacial Dysostosis	Abnormality of the ear, Malar flattening, Cleft palate, Toe syndactyly, Micrognathia, Split hand,...	OMIM:183700
Camptodactyly Syndrome, Guadalajara Type 1	Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Narrow m...	ORPHA:1327
Pseudohypoparathyroidism, Type Ic	Short neck, Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Delayed eruption...	OMIM:612462
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Tachypnea, Restrictive ventilato...	ORPHA:2257
Acrofacial Dysostosis, Rodríguez Type	Arrhinencephaly, Malar flattening, Finger syndactyly, Abnormal pelvic girdle bone morphology, Mic...	ORPHA:1788
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Short hallux, No permanent dentition, Cleft soft palate, Sandal gap...	OMIM:216300
Crossed Polysyndactyly	Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pe...	ORPHA:2935
Terminal Osseous Dysplasia	Camptodactyly of finger, Camptodactyly of toe, Low-set ears, Malar flattening, Abnormality of the...	OMIM:300244
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, High palate, Progressive hearing impairment, Malar flattening, Osteopor...	OMIM:613849
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Tooth agenesis, Abnormal palate morpholo...	ORPHA:2063
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Camptodactyly of finger, Abnormality of the dentition, Low-set ears, Short neck...	ORPHA:178303
Mesomelic Dysplasia, Nievergelt Type	Camptodactyly of finger, Abnormality of fibula morphology, Genu varum, Finger syndactyly, Abnorma...	ORPHA:2633
Regional Odontodysplasia	Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail...	ORPHA:83450
Carpenter Syndrome 1	Agenesis of permanent teeth, Hydroureter, Preaxial foot polydactyly, Aplasia/Hypoplasia of the mi...	OMIM:201000
Acromesomelic Dysplasia 4	Prominent deltoid tuberosities, Short metatarsal, Rhizomelia, Thick eyebrow, Broad finger, Short ...	OMIM:619636
Fanconi Anemia, Complementation Group O	Hydronephrosis, Miscarriage, Anal atresia, Small thenar eminence, Stage 5 chronic kidney disease,...	OMIM:613390
Lujan-Fryns Syndrome	High palate, Abnormality of the dentition, Camptodactyly of finger, Low-set ears, Protruding ear,...	ORPHA:776
Robinow Syndrome, Autosomal Dominant 2	Oligodontia, Short distal phalanx of finger, Calvarial osteosclerosis, Cleft palate, Hearing impa...	OMIM:616331
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Short distal phalanx of finger, Agenesis of permanent teeth, Polydac...	OMIM:614091
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Rhizomelia, Short metatarsal, Hypoplastic pelvis, Sparse hair, Co...	OMIM:614813
Oculofaciocardiodental Syndrome	Oligodontia, Tooth malposition, Short thumb, Solitary median maxillary central incisor, Cleft pal...	ORPHA:2712
Mesomelia-Synostoses Syndrome	Short metatarsal, Hearing impairment, Micromelia, Absent uvula, Narrow foot, Short phalanx of fin...	OMIM:600383
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Dental crowding, Micromelia, Short p...	OMIM:180870
Mosaic Trisomy 1	Camptodactyly of finger, Short upper lip, Rocker bottom foot, Cleft palate, Toe syndactyly, Singl...	ORPHA:1692
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Malar flattening, Osteoarthritis, Abnormal metacarpal morphology, Cleft palate, Long philtrum, Gl...	ORPHA:166100
46,Xx Ovotesticular Difference Of Sex Development	Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital...	ORPHA:2138
Multiple Pterygium Syndrome, X-Linked	Short finger, Low-set ears, Cystic hygroma, Vertebral fusion, Pulmonary hypoplasia, Cleft palate,...	OMIM:312150
Congenital Myopathy 17	Ureteropelvic junction obstruction, Narrow jaw, Cleft palate, Smooth philtrum, Hand clenching, Hy...	OMIM:618975
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Short neck, Short fourth metatarsal, Patellar hypoplasia, Long philtrum, Thin vermi...	ORPHA:464288
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Cleft pa...	ORPHA:949
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial me...	ORPHA:457395
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Hip dislocation, Toe syndactyly, Narrow palate, Hypoplasia of the ra...	OMIM:200980
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Nail dystrophy, Abnormal antihelix morphology, Solit...	ORPHA:952
Arms, Malformation Of	Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna	OMIM:107900
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Retrognathia, Short thumb, Joint contracture of the 5th finger...	OMIM:194350
X-Linked Intellectual Disability, Siderius Type	Scoliosis, Synophrys, Low posterior hairline, Preaxial hand polydactyly, Large hands, Cleft upper...	ORPHA:85287
Brachydactyly Type A1	Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh...	ORPHA:93388
Florid Cemento-Osseous Dysplasia	Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr...	ORPHA:83451
Stickler Syndrome Type 1	Osteoarthritis, Abnormal epiphysis morphology, Cleft palate, Abnormality of vertebral epiphysis m...	ORPHA:90653
Mental Retardation Syndrome, Mietens-Weber Type	Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Pes planus, Elbow ...	OMIM:249600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Aplasia/Hypoplasia of the capital femoral epiphysis, Flexion contracture, Mix...	OMIM:215150
Teebi Hypertelorism Syndrome 2	High palate, Syndactyly, Microdontia, Thick eyebrow, Everted lower lip vermilion, Cleft palate, H...	OMIM:619736
Dentinogenesis Imperfecta	Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho...	ORPHA:49042
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Synophrys, Abnormality of dental morphology, Gingival fibromatosis, Thick eyebrow, E...	ORPHA:2025
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip, Renal agenesis, Renal hypoplasia	OMIM:236110
Otoonychoperoneal Syndrome	Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Ankle flexion contracture, Hip contra...	OMIM:259780
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Abnormal cartilage matrix, Joint...	OMIM:245650
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Delayed eruption o...	ORPHA:2026
Multicentric Carpotarsal Osteolysis Syndrome	Metatarsal osteolysis, Proteinuria, Metacarpal osteolysis, Stage 5 chronic kidney disease, Pes ca...	OMIM:166300
Otopalatodigital Syndrome, Type I	Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif...	OMIM:311300
Odontochondrodysplasia	Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Coxa valga, Death in infancy, M...	ORPHA:166272
Atelosteogenesis Type I	Malrotation of colon, Low-set ears, Abnormality of fibula morphology, Absent or minimally ossifie...	ORPHA:1190
Polycystic Ovary Syndrome 1	Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea	OMIM:184700
Otospondylomegaepiphyseal Dysplasia	Abnormal long bone morphology, Bifid uvula, Osteoarthritis, Cleft palate, Short phalanx of finger...	ORPHA:1427
Ulnar Hemimelia	Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer...	ORPHA:93320
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs, Conductive hearing impairment, Abnormality of the middle ear oss...	ORPHA:2549
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Cleft palate, Aplasia/Hypoplas...	ORPHA:2839
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Penoscrotal transposition, Hearing impairment, Single transverse palmar crease, Camp...	OMIM:619148
Saul-Wilson Syndrome	Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars...	OMIM:618150
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Anodontia, Malar flattening, Brittle hair, Progressive hypotrichosis...	OMIM:225060
Neuralgic Amyotrophy	Respiratory insufficiency, Cleft palate, Scapular winging, Narrow mouth, Acrocyanosis	ORPHA:2901
Ritscher-Schinzel Syndrome 3	Short first metatarsal, Poorly ossified vertebrae, Death in infancy, Shortening of all distal pha...	OMIM:619135
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Scoliosis, High palate, Restrictive ventilatory defect, Respiratory insu...	OMIM:614399
Cleidocranial Dysplasia 2	Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge...	OMIM:620099
Hemifacial Atrophy, Progressive	Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Delayed er...	OMIM:141300
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Congenital Myopathy 14	High palate, Respiratory insufficiency due to muscle weakness, Knee flexion contracture, Death in...	OMIM:618414
Charlie M Syndrome	Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Narrow mouth, Thin vermilion b...	ORPHA:1406
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormality of fibula morphology, Abnormality of the lower limb, Pulmonary hypoplasia, Micrognath...	ORPHA:3035
Dyggve-Melchior-Clausen Disease	Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,...	OMIM:223800
Postaxial Oligodactyly, Tetramelic	Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat...	OMIM:176240
Brachydactyly, Type B1	Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen...	OMIM:113000
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Delayed eruption of teeth, Sensorineural hearing impairment, Short philtrum, Dentin...	ORPHA:71267
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Malar flattening, Abnormal hand morphology, Cleft palate, Small hand, Short foot	OMIM:300261
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Torticollis, Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex co...	OMIM:217150
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Dystrophic toenail, Highly arched eyebrow, Toe syndactyly, Carious teeth, Nail dystrophy, Sparse ...	ORPHA:3253
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Craniosynostosis, Limited elbow extension, Low-set ears, Narrow pelvis bone, Short neck, Malar fl...	OMIM:616723
Martsolf Syndrome 1	Tooth malposition, Short toe, Short phalanx of finger, Osteopathia striata, Recurrent respiratory...	OMIM:212720
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Asbestos Intoxication	Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur...	ORPHA:2302
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis...	OMIM:616570
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Advanced ossification of carpal bones, Coxa valga, Cleft palate, Knee dislocation, ...	OMIM:620269
Coffin-Siris Syndrome 2	Macroglossia, High palate, Short distal phalanx of finger, Long eyelashes, Abnormal pinna morphol...	OMIM:614607
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Aplasia/Hypoplasia of the lungs, Malar flattening, Abnormal antihelix morpholog...	ORPHA:2145
Genitopatellar Syndrome	Hydronephrosis, Patellar aplasia, Hypoplastic ilia, Low-set ears, Fine hair, Pulmonary hypoplasia...	ORPHA:85201
Temple-Baraitser Syndrome	Short distal phalanx of finger, Thick eyebrow, Broad thumb, High anterior hairline, Short phalanx...	ORPHA:420561
Cleft Lip With Or Without Cleft Palate	Chronic sinusitis, Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midl...	ORPHA:1991
Aminopterin Syndrome Sine Aminopterin	Rudimentary postaxial polydactyly of hands, Oligodontia, High palate, Low-set ears, Short thumb, ...	OMIM:600325
Cenani-Lenz Syndrome	Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Malar flattening, Finge...	ORPHA:3258
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth, Sensorineural hearing impa...	ORPHA:2027
Frank-Ter Haar Syndrome	Premature loss of teeth, Camptodactyly of finger, Osteolysis, Joint stiffness, Protruding ear, Um...	ORPHA:137834
Trisomy 8P	Nephrocalcinosis, Bifid uvula, Cleft palate, Thin vermilion border, Single transverse palmar crea...	ORPHA:264450
Multiple Pterygium Syndrome, Lethal Type	Short finger, Low-set ears, Cystic hygroma, Vertebral fusion, Pulmonary hypoplasia, Cleft palate,...	OMIM:253290
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Triphalangeal thumb, Orofacial cleft, Split foot	ORPHA:3434
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi...	ORPHA:988
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Bifid uvula, Widely spaced teeth, Rhizomelia, Short metatarsal, Short toe, Smooth philtrum, Phala...	OMIM:266920
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Mandibular prognathia, Crowded maxillary inc...	ORPHA:397973
Stuve-Wiedemann Syndrome 1	Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal interphalang...	OMIM:601559
Acromicric Dysplasia	Long eyelashes, Deep philtrum, Short metacarpal, Narrow mouth, Cone-shaped epiphysis, Long philtr...	OMIM:102370
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short metacarpal, Syn...	ORPHA:93351
Congenital Anomalies Of Kidney And Urinary Tract 1	Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve...	OMIM:610805
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Posteriorly rotated ears, Delayed eruption of permanent teeth, Rocker bottom foot, ...	OMIM:618506
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Abnormal cortical bone morphology, Short neck, Pulmonary hypop...	ORPHA:1486
20P12.3 Microdeletion Syndrome	Thickened helices, Malar flattening, Narrow mouth, Broad thumb, Long philtrum, Broad hallux phala...	ORPHA:261295
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Intestinal hypoplasia, Cystic hygroma, Absent palmar crease, Pulmonary h...	ORPHA:994
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	High palate, Micropenis, Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Po...	OMIM:618142
Otopalatodigital Syndrome, Type Ii	Short thumb, Short metatarsal, Rocker bottom foot, Cleft palate, Narrow mouth, Toe syndactyly, Br...	OMIM:304120
Rudiger Syndrome	Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus	OMIM:268650
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Abnormality of ...	ORPHA:1529
Renal Hypodysplasia/Aplasia 3	Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl...	OMIM:617805
Whistling Face Syndrome, Recessive Form	High palate, Camptodactyly, Ulnar deviation of finger, Trismus, Malar flattening, Short neck, Kne...	OMIM:277720
Marden-Walker Syndrome	High palate, Camptodactyly, Low-set ears, Micropenis, Pyloric stenosis, Short neck, Pulmonary hyp...	OMIM:248700
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ...	OMIM:257850
Acrofacial Dysostosis 1, Nager Type	Absent lower eyelashes, Hip dislocation, Cleft palate, Toe syndactyly, Short toe, Hypoplasia of t...	OMIM:154400
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Primary amenorrhea, Unilateral renal agenesis, Abnormal external g...	OMIM:158330
Coloboma Of Macula With Type B Brachydactyly	Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal phalanx of the thumb, Ty...	OMIM:120400
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Hypogonadism, Testicular seminoma, Renal insufficiency, Unilateral renal agenesis...	ORPHA:281090
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Metaphyseal cupping, Rhizomelia, Multiple prenatal...	OMIM:215140
Synpolydactyly 1	Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh...	OMIM:186000
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:613546
Burn-Mckeown Syndrome	Bifid uvula, Unilateral renal agenesis, Cleft palate, Narrow mouth, 2-3 toe syndactyly, Thin verm...	OMIM:608572
Agnathia-Otocephaly Complex	Tracheomalacia, Low-set ears, Conductive hearing impairment, Aglossia, Pulmonary hypoplasia, Clef...	OMIM:202650
Diaphanospondylodysostosis	Increased nuchal translucency, Tracheomalacia, Low-set ears, Enlarged kidney, Short neck, Horsesh...	OMIM:608022
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Multicentric Osteolysis, Nodulosis, And Arthropathy	Pes cavus, Hirsutism, Interphalangeal joint contracture of finger, Thin bony cortex, Broad metata...	OMIM:259600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon...	OMIM:276820
Rapp-Hodgkin Syndrome	Bifid uvula, Cleft palate, Hearing impairment, Narrow mouth, Slow-growing hair, Sparse eyebrow, C...	OMIM:129400
Pseudoachondroplasia	Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankles, Osteoart...	ORPHA:750
Acrootoocular Syndrome	Grayish enamel, Short toe, Supernumerary tooth, Palmar hyperkeratosis, Conductive hearing impairm...	ORPHA:2980
Pycnodysostosis	Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Carious teeth, Increased susc...	ORPHA:763
Coffin-Siris Syndrome 3	Macroglossia, High palate, Long eyelashes, Umbilical hernia, Delayed eruption of permanent teeth,...	OMIM:614608
Ulna Hypoplasia-Intellectual Disability Syndrome	Ulnar deviation of finger, Mesomelia, Micromelia, Broad thumb, Talipes, Metatarsus adductus, Hypo...	ORPHA:2249
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Slender long bones with narrow diaphyses, Sparse axillary hair, Metaphyseal s...	OMIM:608154
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Finger syndactyly, Abnormal metacarpal morphology, Cleft palate,...	ORPHA:3429
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Tooth agenesis, Mandibular prognathia, Alopecia, Hearing impairment, Delayed eruption of teeth, A...	ORPHA:2325
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Absent radius, Aplasia/Hypoplasia of the thumb, Aplasia of the 1st metacarpal, Hypoplasia of the ...	ORPHA:1352
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Polycystic ovaries, Nephrotic syndrome, Membranoproliferative glomerulonephritis, He...	OMIM:608709
Symphalangism With Multiple Anomalies Of Hands And Feet	Short distal phalanx of hallux, Small thenar eminence, Conductive hearing impairment, Aplasia/Hyp...	ORPHA:3246
Short-Rib Thoracic Dysplasia 12	Atelectasis, Median cleft lip and palate, Hypoplastic nipples, Short toe, Lobulated tongue, Bowin...	OMIM:269860
Dyssegmental Dysplasia, Silverman-Handmaker Type	Malar flattening, Pulmonary hypoplasia, Occipital encephalocele, Posteriorly rotated ears, Neonat...	OMIM:224410
Cleft Velum	Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media, Velopharyngeal insuf...	ORPHA:99772
Ophthalmomandibulomelic Dysplasia	Elbow dislocation, Camptodactyly of finger, Synostosis of carpal bones, Mesomelia, Micromelia, Ra...	ORPHA:2741
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft palate, Premature skin wrinkling, Cleft upper lip, Widely-spaced max...	OMIM:601349
Multiple Synostoses Syndrome 3	Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Limited ...	OMIM:612961
Orofaciodigital Syndrome Type 5	Abnormality of the philtrum, Postaxial foot polydactyly, Crossed fused renal ectopia, Bifid uvula...	ORPHA:2919
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Protruding ear, Thick eyebrow, Smooth philtrum, Large hands, Brac...	OMIM:300534
Gordon Syndrome	High palate, Camptodactyly of finger, Finger syndactyly, Cleft palate, Hearing impairment, Talipe...	ORPHA:376
Aarskog-Scott Syndrome	Cleft palate, Short 5th finger, Large earlobe, Single transverse palmar crease, Cleft upper lip, ...	OMIM:305400
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh...	ORPHA:93409
Hyperekplexia 4	Camptodactyly, High palate, Adducted thumb, Respiratory failure, Talipes equinovarus, Kyphoscoliosis	OMIM:618011
Congenital Muscular Dystrophy, Ullrich Type	Scoliosis, Hip dislocation, Abnormal palate morphology, Increased laxity of fingers, Knee flexion...	ORPHA:75840
Otodental Dysplasia	Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru...	OMIM:166750
Lethal Congenital Contracture Syndrome 10	Macroglossia, Stiff neck, High palate, Torticollis, Low-set ears, Short neck, Pulmonary hypoplasi...	OMIM:617022
Spinal Muscular Atrophy, Type I	Death in childhood, Recurrent respiratory infections, Respiratory insufficiency, Respiratory fail...	OMIM:253300
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Abnormality ...	ORPHA:2768
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Hip dysplasia, Abnormal metaphysis morphology, Irregular iliac cres...	ORPHA:93316
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Sparse body hair, Microdontia, Everted lower lip vermilion, Delay...	ORPHA:181
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, High palate, Abnormality of the dentition, Short tibia, Accessor...	OMIM:258865
Cerebrooculofacioskeletal Syndrome 1	Death in childhood, Second metatarsal posteriorly placed, Rocker bottom foot, Thin vermilion bord...	OMIM:214150
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Short distal phalanx of finger, Abnormality of the dentition, Low-set, p...	ORPHA:2994
Schneckenbecken Dysplasia	Hypoplastic ilia, Abnormal metaphysis morphology, Short neck, Malar flattening, Short ribs, Hypop...	ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Short metatarsal, Capitate-hamate fusion, Short metacarpal, Osteoarthrit...	OMIM:271650
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Cleft palate, Hearing...	OMIM:618363
Pfeiffer Syndrome	Elbow ankylosis, High palate, Coronal craniosynostosis, Mandibular prognathia, Syndactyly, Finger...	OMIM:101600
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Short neck, Cleft palate, Micrognathia, Thin upper lip vermilion	ORPHA:2015
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Selective tooth agenesis, Hydroureter, Cleft palate, Hearing impairment,...	OMIM:305620
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Synophrys...	ORPHA:476126
48,Xxyy Syndrome	Recurrent respiratory infections, Elbow dislocation, Chronic otitis media, Hip dysplasia, Taurodo...	ORPHA:10
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Abnormality of the kidney, A...	ORPHA:363444
Tetrasomy 5P	Recurrent respiratory infections, High palate, Pulmonary arterial hypertension, Overlapping toe, ...	ORPHA:3309
Parc Syndrome	Alopecia, Absent eyelashes, Cleft palate, Absent eyebrow, Microretrognathia	OMIM:600331
Cenani-Lenz Syndactyly Syndrome	Ectopic kidney, Syndactyly, Enamel hypoplasia, Premature loss of permanent teeth, Radioulnar syno...	OMIM:212780
Weismann-Netter Syndrome	Calvarial hyperostosis, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tib...	OMIM:112350
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, High palate, Low-set, posteriorly rotated ears, Too...	ORPHA:1387
Santos Syndrome	Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad...	OMIM:613005
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Hypoplasia of penis, Nephrolithiasis, Palmoplantar keratoderma, Hypo...	ORPHA:1816
Spinocerebellar Ataxia, Autosomal Recessive 20	Macroglossia, High palate, Camptodactyly, Hypertrichosis, Oligosacchariduria, Broad philtrum, Den...	OMIM:616354
Char Syndrome	Hand polydactyly, Malar flattening, Supernumerary nipple, Persistence of primary teeth, Mesoaxial...	ORPHA:46627
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hearing impairment, Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Cl...	OMIM:308050
Cleft Palate, Isolated	Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Weaver Syndrome	Calcaneovalgus deformity, Pes cavus, Broad thumb, Single transverse palmar crease, Sparse hair, L...	OMIM:277590
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Juberg-Hayward Syndrome	Anteriorly placed anus, Short thumb, Abnormal eyebrow morphology, Horseshoe kidney, Abnormal fing...	ORPHA:2319
Auriculocondylar Syndrome 1	Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Ankylosis, Micrognat...	OMIM:602483
Ramon Syndrome	Osteolysis, Conductive hearing impairment, Gingival fibromatosis, Narrow palate, Delayed eruption...	ORPHA:3019
Alg3-Cdg	Macroglossia, High palate, Metaphyseal chondrodysplasia, Abnormal pinna morphology, Abnormality o...	ORPHA:79321
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Short distal phalanx of finger, High palate, Abnormality of the humerus, ...	ORPHA:3098
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Acromelia of the lower limbs, Amelia involving the upper limbs, ...	ORPHA:1027
Surfactant Metabolism Dysfunction, Pulmonary, 3	Clubbing, Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respira...	OMIM:610921
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Unilateral cleft lip, Malar flattening, Abnormal finger morphology, Abnormality of the...	ORPHA:2511
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Micropenis, Abnormal pinna morphology, Short phalanx of finger, Widow's peak, Thick eyebrow, Uptu...	OMIM:614684
Weaver Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Retrognathia, Abnormal metaphysis mor...	ORPHA:3447
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Hypoplasia of the radius, Nonopposable triphalangeal thumb	ORPHA:2252
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Congenital hip dislocation, Widely spaced teeth, Dislocation of the femoral head,...	OMIM:619797
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	High palate, Low anterior hairline, Respiratory tract infection, Tapered finger, Long fingers, 2-...	OMIM:218000
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short toe, Small epiphyses, Short phalanx of finger, Tapered metacarpals, Thick lower lip vermili...	OMIM:611717
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu...	OMIM:228300
Craniometadiaphyseal Dysplasia	Absent paranasal sinuses, High palate, Low-set ears, Genu varum, Malar flattening, Mandibular pro...	OMIM:269300
Larsen Syndrome	Hip dislocation, Short metatarsal, Cleft palate, Hearing impairment, Knee dislocation, Tapered hu...	OMIM:150250
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Low-set ears, Malar flattening, Metaphyseal cupping, Rhizomelia, ...	ORPHA:50945
Joubert Syndrome 18	Camptodactyly, Retrognathia, Postaxial polydactyly, Horseshoe kidney, Renal cyst, Trident pelvis,...	OMIM:614815
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, Abnormality of the humerus, Abnormal eyebrow morphology, Metatar...	ORPHA:2496
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Protruding ear, Cleft palate, Gingival...	ORPHA:2013
Brachydactyly Type E	Type E brachydactyly, Short distal phalanx of finger, Short metatarsal, Short metacarpal, Joint h...	ORPHA:93387
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Recurrent respiratory infections, Toot...	ORPHA:2484
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Microtia, third degree, Bifid uvula, Cleft palate, Micromelia, Preaxial ...	ORPHA:2753
Achondrogenesis Type 2	Hypoplastic ilia, Short ribs, Pulmonary hypoplasia, Hearing impairment, Delayed proximal femoral ...	ORPHA:93296
Laron Syndrome	Tooth agenesis, Abnormality of the elbow, Microdontia, Osteoarthritis, Hypoplasia of penis, Short...	ORPHA:633
Roifman-Chitayat Syndrome	Short neck, Ectopic kidney, Umbilical hernia, Short metatarsal, Short metacarpal, Osteopenia, Art...	OMIM:613328
Omodysplasia 1	Short humerus, Anterolateral radial head dislocation, Limited elbow extension, Short neck, Malar ...	OMIM:258315
Multiple Pterygium Syndrome, Escobar Variant	Hip dislocation, Talipes calcaneovalgus, Hypoplastic nipples, Rocker bottom foot, Cleft palate, N...	OMIM:265000
Radial Ray Hypoplasia With Choanal Atresia	Distally placed thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb	OMIM:179270
Robinow Syndrome, Autosomal Recessive 2	Clinodactyly, Camptodactyly, Abnormality of the dentition, Long eyelashes, Low-set ears, Posterio...	OMIM:618529
Craniometaphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Patchy sclerosis of finger phalanx, Facial hyperostosis, Mandibular pro...	OMIM:218400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia of the fibula, Finger syndactyl...	ORPHA:2256
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Abnormality of the dentition, Synophrys, Finger syndactyly, Abnormal...	ORPHA:3268
Trisomy 4P	Camptodactyly of finger, Abnormality of the dentition, Abnormal palate morphology, Radial club ha...	ORPHA:1738
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Abnormality of the dentition, Bifid uvula, Abnormality of the hand, Osteopenia, Clef...	ORPHA:576283
Ulnar-Mammary Syndrome	Hypoplastic nipples, Short 5th finger, Hypoplasia of the radius, Anal stenosis, Short 5th toe, Ap...	OMIM:181450
Syndactyly Type 2	Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly...	ORPHA:93403
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Micrognathia	ORPHA:2016
Familial Scaphocephaly Syndrome, Mcgillivray Type	High palate, Mandibular prognathia, Toe syndactyly, Broad hallux phalanx, Open bite	ORPHA:168624
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Anteriorly placed anus, Chronic kidney disease, Rhizomelia, Unilateral renal agenesis, Talipes, 1...	OMIM:617661
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Malar flattening, Mandibular prognathia, ...	ORPHA:94066
Femoral-Facial Syndrome	Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Renal hypoplasia/ap...	ORPHA:1988
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Oligodontia, Short distal phalanx of finger, Anodontia, Hypoplast...	ORPHA:90650
Dysostosis, Stanescu Type	Macroglossia, Increased bone mineral density, Abnormality of the dentition, Abnormal palate morph...	ORPHA:1798
Cranioectodermal Dysplasia	Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys...	ORPHA:1515
Smith-Magenis Syndrome	Abnormality of the dentition, Malar flattening, Synophrys, Mandibular prognathia, Hearing impairm...	OMIM:182290
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Limb undergrowth, Capitate-hama...	OMIM:614078
Short Rib-Polydactyly Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl...	ORPHA:1505
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Pulmonary hypoplasia, Widow's peak, Dental crowding, Highly arched eyeb...	OMIM:145420
Wiedemann-Steiner Syndrome	Thick eyebrow, Highly arched eyebrow, Short toe, Short 5th finger, Elbow hypertrichosis, Short ph...	OMIM:605130
Orofaciodigital Syndrome Type 2	Y-shaped metacarpals, Protruding ear, Polysyndactyly of hallux, Short tibia, Preaxial foot polyda...	ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, High palate, Mandibular prognathia, Long palm, Hypoplasia of the maxilla	OMIM:300676
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li...	ORPHA:75508
Tarp Syndrome	Prominent antihelix, Horseshoe kidney, Thick eyebrow, Rocker bottom foot, Cleft palate, Hearing i...	ORPHA:2886
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia, Respiratory failure	OMIM:619887
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Absent toe, Short metatarsal, Short palm, 2-3 toe syndactyly, Sho...	OMIM:614814
Zimmermann-Laband Syndrome 3	Clinodactyly, Short distal phalanx of finger, High palate, Long eyelashes, Facial hypertrichosis,...	OMIM:618658
Pitt-Hopkins Syndrome	Tooth malposition, Short metatarsal, Single transverse palmar crease, Narrow foot, Micropenis, Sh...	ORPHA:2896
Coffin-Lowry Syndrome	Short distal phalanx of finger, Protruding ear, Abnormal diaphysis morphology, Widely spaced teet...	ORPHA:192
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Clubbing, Absent broncho...	OMIM:265120
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft lip, Tooth agenesis, Cleft palate	ORPHA:1074
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Sparse body hair, Conductive hearing impairment, Selective tooth agenesis, Micrope...	OMIM:106260
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Retrognathia, Polydactyly, High, narrow palate, Clubbing of fingers, Par...	OMIM:617926
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short metatarsal, Short metacarpal, Sh...	OMIM:112450
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx...	ORPHA:85188
Craniolenticulosutural Dysplasia	Premature loss of teeth, High palate, Pes planus, Hypoplasia of teeth, Brittle hair, Microdontia,...	ORPHA:50814
Phenobarbital Embryopathy	Unilateral cleft lip, Malar flattening, Aplasia/Hypoplasia of fingers, Mandibular prognathia, Bra...	ORPHA:1919
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Oligodactyly, Recurrent respiratory infections, Retrognathia, Median pseudocleft lip, Hypertensio...	OMIM:619758
Kallmann Syndrome With Spastic Paraplegia	High palate, Cryptorchidism, Testicular atrophy, Micropenis, Unilateral renal agenesis, Hypogonad...	OMIM:308750
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of...	ORPHA:93314
Split hand/foot malformation 1 (SHFM1)	Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ...	DECIPHER:46
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu...	OMIM:606895
Polydactyly, Preaxial Ii	Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,...	OMIM:174500
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Premature loss of teeth, High palate, Acroosteolysis of distal phalange...	OMIM:608612
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Low-set, posteriorly rotated ears, Abnormal tragus m...	ORPHA:1133
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Retrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft hard p...	ORPHA:2521
Microcephaly, Short Stature, And Limb Abnormalities	Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino...	OMIM:617604
Weill-Marchesani Syndrome 2	Broad metatarsal, Short finger, High palate, Thickened helices, Tooth malposition, Broad phalange...	OMIM:608328
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Malar flattening, Short fourth metatarsal, Short metacarpal, Highly arched ...	OMIM:600430
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long fingers, Highly arched eyebrow, Smooth philtrum, Large earlobe, Webbed neck, Recurrent respi...	OMIM:618316
Autosomal Recessive Primary Microcephaly

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