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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal lung lobation, Low-... ORPHA:2631
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Fixed elbow flexion, Genu valgum, Rhizomelia, Delayed epip... ORPHA:166016
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Retrognathia, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Sing... OMIM:227270
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Abnormality of the kidney, Clinodactyly of the 5th finger, Finger syndactyly, Ap... ORPHA:3320
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, K... OMIM:616531
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Micro... ORPHA:971
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Rubinstein-Taybi Syndrome 2
Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Intestinal malrotation, Broad thum... OMIM:613684
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Zechi-Ceide Syndrome
Thin vermilion border, Long foot, Abnormal earlobe morphology, Short philtrum, Sandal gap, Short ... ORPHA:217017
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broa... ORPHA:1278
Jackson-Weiss Syndrome
Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ... ORPHA:1540
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Death in infancy, D... OMIM:256050
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, S... OMIM:601957
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly OMIM:613382
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Retrognathia, Ankle flexion contracture, Stillbirth, Dental crowding, Elbow flexion contracture, ... OMIM:617468
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Zechi-Ceide Syndrome
Long foot, Short metatarsal, Sandal gap, Stenosis of the external auditory canal, Oligodontia, Cl... OMIM:612916
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Trichorhinophalangeal Syndrome, Type I
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ... OMIM:190350
Multiple Epiphyseal Dysplasia Type 4
Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ... ORPHA:93307
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... ORPHA:1570
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Supernumerary tooth, Long philtrum, Short finger, Cone-shaped epiphyses of the middle... OMIM:190351
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Bilateral sensorine... OMIM:605282
Hhhh Syndrome
Hemiatrophy OMIM:306960
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm... OMIM:201170
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Omodysplasia 2
Fibular hypoplasia, Recurrent otitis media, Limited elbow flexion/extension, Clinodactyly of the ... OMIM:164745
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Absent thumb, Unilateral renal agenesis OMIM:179280
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand OMIM:300261
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Long philtrum, Leukonychia, Clinodactyly of the 5th finger, Short metatarsal... ORPHA:77258
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612463
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv... OMIM:616300
Catel-Manzke Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Highly a... ORPHA:1388
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Forearm undergrowth, Renal agenesis, Bowed forearm bones, A... OMIM:602200
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Long phi... OMIM:251450
Anonychia-Microcephaly Syndrome
Bilateral single transverse palmar creases, Carious teeth, Clinodactyly of the 5th finger, Abnorm... ORPHA:1094
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
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... OMIM:614900
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor... ORPHA:1837
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Bowen-Conradi Syndrome
Rocker bottom foot, Orofacial cleft, Abnormal lung lobation, Clinodactyly of the 5th finger, Deat... ORPHA:1270
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop... ORPHA:2972
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Absent thumb, Ap... OMIM:612447
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Delayed erupt... OMIM:265900
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Mi... OMIM:241800
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia, Short middle phalanx of the 5th finger... ORPHA:63442
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Split-Hand/Foot Malformation 3
Nail dystrophy, Abnormal pinna morphology, Narrow mouth, High palate, Camptodactyly, Split hand, ... OMIM:246560
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Cone-shaped epiphysis, Hy... ORPHA:439822
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Lethal Congenital Contracture Syndrome 11
Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion co... OMIM:617194
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the neck, Stillbirth, Abnormal hip bone morphology, Abnormal lung mor... ORPHA:294975
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat... ORPHA:141152
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li... ORPHA:401942
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Abnormal lung lobation, Low-se... ORPHA:958
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Aarskog-Scott Syndrome
Abnormal pinna morphology, Everted lower lip vermilion, Umbilical hernia, Long philtrum, Joint hy... ORPHA:915
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Metaphyseal spu... OMIM:613091
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Cleft ... OMIM:601076
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal... ORPHA:1350
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias, Anal atresia OMIM:312190
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flattened epiphysis, J... OMIM:612350
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Cri-Du-Chat Syndrome
Premature graying of hair, Abnormal pinna morphology, Short metacarpal, Bifid uvula, Syndactyly, ... OMIM:123450
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso... OMIM:249710
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv... OMIM:216550
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Primary amenorrhea, Cryptorchidism, Mic... OMIM:244200
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Renal agenesis, Short distal phalanx of finger, Type B brac... ORPHA:1471
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Abnormality of the dentition, Osteolysis ORPHA:2776
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi... OMIM:166250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Abnormal pinna morphology, Microtia, Short long bone, Short ribs, L... OMIM:617925
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Elbow f... OMIM:619110
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Dumbbell-sh... OMIM:228520
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl... OMIM:113300
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear... OMIM:271700
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
17Q21.31 Microduplication Syndrome
Clinodactyly of the 5th finger, Short philtrum, Sandal gap, High palate, Abnormality of the denti... ORPHA:217340
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilater... OMIM:274000
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... OMIM:249600
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... ORPHA:1826
Microcephaly-Micromelia Syndrome
Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing rib... OMIM:251230
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Mandibular prognathia, Flat acetabular ro... OMIM:615222
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal ... OMIM:615524
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Short long bone, Death in infancy, Ureteral ... OMIM:618845
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Low-set ears, Bowing of the long bones, Hypoplas... ORPHA:85166
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Polycystic ovaries, Decreased fertility, Hypogonadotropic hyp... ORPHA:1643
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,... ORPHA:2795
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short metatarsal, Hypospadias, Mandibular prognathia, Short metacarpal, Short phalanx o... OMIM:614613
Pseudohypoparathyroidism, Type Ia
Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed er... OMIM:103580
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo... ORPHA:140
Otoonychoperoneal Syndrome
Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra... OMIM:259780
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transver... OMIM:236500
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Stipp... ORPHA:93384
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/... OMIM:136760
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Aplasia... ORPHA:1248
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Addu... OMIM:616897
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... OMIM:114290
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... OMIM:617247
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Camptodactyly of finger, Aplasia/Hypoplasia of the ... ORPHA:916
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Low-s... ORPHA:1307
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Tapered finger, Patchy alopecia, Hypoplasia of the maxilla, Camptodactyly of finger,... ORPHA:85279
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Split foot, 1-2 finger syndactyly, Ureteral agenesis... ORPHA:2437
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Abnormal lung lobation, Polycystic kidney dysplasia, ... OMIM:263210
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Flared il... ORPHA:90652
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid distal ... ORPHA:2669
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Short distal phalanx of hallux, Nephroti... OMIM:256200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Proximal placement of thumb, Esophageal atresia, Tracheoesophageal fistula, Anal... OMIM:314390
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... OMIM:619489
Brachydactyly Type A1
Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi... ORPHA:93388
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Intestinal malrotation, Paranasal sinus hy... OMIM:300373
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... ORPHA:2741
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,... ORPHA:3344
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Hig... OMIM:620662
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Glossoptosis, Tapered finger, Camptodactyly of finger,... ORPHA:3201
Orofaciodigital Syndrome Xix
Retrognathia, Low posterior hairline, Microdontia, Accessory oral frenulum, Tongue nodules, Narro... OMIM:620107
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Single transverse palmar crease, Scoliosis, High palate, Kyphos... OMIM:611890
Nager Syndrome
Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Unilateral renal agene... ORPHA:245
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Unilateral renal agenesis, Delayed eruption of teeth, Epiphyseal stippling, Con... OMIM:101800
Moebius Syndrome
Radial deviation of finger, Abnormal pinna morphology, Bifid uvula, Syndactyly, Aplasia/Hypoplasi... OMIM:157900
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Abnormally ossified ve... ORPHA:1427
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes... OMIM:158300
Invasive Mole
Menometrorrhagia ORPHA:99925
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Peg-shaped maxillary... ORPHA:199306
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Single transverse palmar crease, High palate, Ulnar deviation of the... OMIM:114300
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:601390
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Hypospadias, Narrow mouth, Broad thumb, Downturned corners of mouth, Microgn... OMIM:300978
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal ... OMIM:607323
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis OMIM:601355
Kinsship Syndrome
Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Coxa valga, Hip dislocation, Pol... OMIM:619297
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Raine Syndrome
Mixed hearing impairment, Subperiosteal bone formation, Highly arched eyebrow, Abnormal pinna mor... OMIM:259775
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari... ORPHA:2662
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the dentition, Bowin... ORPHA:2501
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol... OMIM:252100
Monosomy 5P
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormality of bone mineral density, High p... ORPHA:281
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:615546
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Abnormality of the ear, Toe... OMIM:183700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Short long bone, Short ribs, Hypoplastic ischia, Encephalocele, Hirsutism, Micromeli... ORPHA:1865
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 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, Low-set ears, High... ORPHA:2863
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Broad thumb, Mesomel... OMIM:616331
Crossed Polysyndactyly
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Abn... ORPHA:2935
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m... ORPHA:1452
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Nail dystrophy, Solitary median maxillary central inci... ORPHA:952
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed eruption of teet... OMIM:612462
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears, Gl... OMIM:616367
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,... ORPHA:2063
8Q22.1 Microdeletion Syndrome
Sandal gap, Abnormal antihelix morphology, Finger syndactyly, Abnormal pinna morphology, Highly a... ORPHA:178303
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Cochlear malformation, Congenital sensorineural hearing imp... ORPHA:96148
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Recurrent urinary trac... OMIM:613680
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Low-set ears,... OMIM:300244
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Microtia, Short distal phalanx of finger, Low-set, posteriorly rotated ear... ORPHA:1327
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sensorineural hearing impairment... OMIM:215150
Intellectual Disability, Wolff Type
Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl... ORPHA:3080
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition, Hearing impairment,... ORPHA:2222
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Renal cyst, Anal atresia, Dea... OMIM:613390
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Congenital Myopathy 17
Long philtrum, Overlapping toe, Clinodactyly, Hand clenching, Cleft palate, Narrow jaw, High pala... OMIM:618975
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Dental crowding, Short metacarpal, Micromelia, Short p... OMIM:180870
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cle... ORPHA:166100
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Low-set ears, Abnormality of the dentition, High palate, Hypopla... ORPHA:776
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th... OMIM:201000
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Thin vermilion border, Patellar hypoplasia, Sensorineural hearing impairment, Gingi... ORPHA:464288
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Abnormal antihelix morphology, Finger syndactyly, Microtia, Split hand, Micromelia, ... ORPHA:2145
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Short long... ORPHA:1190
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Sparse hai... OMIM:614091
Multiple Pterygium Syndrome, X-Linked
Short finger, Low-set ears, Cleft upper lip, Micrognathia, Cleft palate, Cystic hygroma, Flexion ... OMIM:312150
Auriculocondylar Syndrome 2A
Short mandibular rami, Stenosis of the external auditory canal, Mandibular condyle hypoplasia, Te... OMIM:614669
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Microtia, Short metacarpal, Hypoplastic pelvis, Sparse hair, Short distal pha... OMIM:614813
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Umbilical hernia, Prominent de... OMIM:619636
Mosaic Trisomy 1
Rocker bottom foot, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Wide mouth, Long to... ORPHA:1692
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Gingival overgrowth, Delayed cranial suture closure, Mandibu... ORPHA:1832
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... OMIM:619736
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Highly arched eyebrow, Sensorineural hearing impairmen... ORPHA:2712
Mesomelia-Synostoses Syndrome
Narrow foot, Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar devi... OMIM:600383
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Broad distal phalanx of the thumb, Renal agenesis, Bifid distal phalanx ... OMIM:120400
Acrorenal-Mandibular Syndrome
Split foot, Hip dislocation, Narrow palate, Hypoplasia of the radius, Hypoplasia of the ulna, Pol... OMIM:200980
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Abnormal dentin morpholog... ORPHA:49042
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Pes cavus, Carpal osteolysis, ... OMIM:166300
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormal foot morphology, Sensorineural hearing impairment, Abnormality... OMIM:609166
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Abnormally ossified ver... ORPHA:3035
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri... ORPHA:83451
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Otopalatodigital Syndrome, Type I
Nail dystrophy, Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowin... OMIM:311300
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Low-set ears, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita,... OMIM:616570
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Aplasia ... ORPHA:1352
Stickler Syndrome Type 1
Long philtrum, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Abnorma... ORPHA:90653
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Scoliosis, Low posterior hairline, Synophrys, Cleft upper lip, Large hands, Prea... ORPHA:85287
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Nail dystrophy, Highly arched eyebrow, Bilateral clef... ORPHA:3253
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Saul-Wilson Syndrome
Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ... OMIM:618150
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Highly arched... OMIM:619135
Martsolf Syndrome 1
Slender ulna, Short metacarpal, Low posterior hairline, Broad femoral neck, Long philtrum, Joint ... OMIM:212720
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Abnormal pinna morphology, Microtia, Hyp... ORPHA:2839
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Abnorm... ORPHA:949
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Highly arched eyebrow, High palate, Bilateral ta... OMIM:618142
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Short long bone, Glossoptosis, Knee dislocation, Cleft palate, Pie... OMIM:620269
Whistling Face Syndrome, Recessive Form
Trismus, Shoulder flexion contracture, Elbow flexion contracture, Whistling appearance, High pala... OMIM:277720
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Overlapping toe, Penoscrotal transposition, Advanced eruption of teeth, Hypospadias,... OMIM:619148
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Microtia, Femoral b... OMIM:616723
ERI1-related disease
Dislocated radial head, Oligodactyly, Syndactyly, Sparse hair, Slender metacarpals, Wormian bones... OMIM:608739
Autosomal Recessive Amelia
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up... ORPHA:1027
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Acromicric Dysplasia
Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal... OMIM:102370
Genitopatellar Syndrome
Delayed eruption of teeth, Low-set ears, Hypoplastic ilia, Sparse scalp hair, Hypoplastic ischia,... ORPHA:85201
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, Abnormal pinna ... OMIM:614607
Temple-Baraitser Syndrome
Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mouth, Short distal p... ORPHA:420561
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Hirsutism, Abnormality of ... ORPHA:2026
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Oligodontia, Low-set ears, High palate, Arachnodactyly, Micrognathia, Clef... OMIM:600325
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... OMIM:601559
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... ORPHA:1836
Multiple Pterygium Syndrome, Lethal Type
Short finger, Low-set ears, Micrognathia, Cleft palate, Cystic hygroma, Flexion contracture, Vert... OMIM:253290
Acrofacial Dysostosis 1, Nager Type
Radial deviation of finger, Absent thumb, Wide mouth, Sparse lower eyelashes, Absent radius, Over... OMIM:154400
Auriculoosteodysplasia
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d... ORPHA:114
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Low-set ears, Poster... OMIM:618506
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence OMIM:179270
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex co... OMIM:217150
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentin... ORPHA:71267
Trisomy 8P
Retrognathia, Clinodactyly of the 5th toe, Abnormal middle ear morphology, Clinodactyly of the 2n... ORPHA:264450
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Cystic renal dysplasia, Hammertoe, Webbed neck... OMIM:608022
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Open bite, High palate, Toe syndactyly, Broad hallux phalanx ORPHA:168624
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Micrognathia,... ORPHA:994
20P12.3 Microdeletion Syndrome
Microtia, Narrow mouth, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Long philtrum, ... ORPHA:261295
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ... ORPHA:137834
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Patchy alopecia, Poliosis, Dental mal... OMIM:141300
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Hypoplasia of the maxil... ORPHA:1529
Neuralgic Amyotrophy
Respiratory insufficiency, Narrow mouth, Scapular winging, Bifid uvula, Cleft palate, Upper limb ... ORPHA:2901
Marden-Walker Syndrome
High, narrow palate, Hypospadias, Low-set ears, High palate, Camptodactyly, Congenital contractur... OMIM:248700
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Sandal gap, Gingival overgrowth, Prominent fingertip pads, L... OMIM:618529
Cleft Velum
Recurrent otitis media, Cleft soft palate, Aspiration pneumonia, Hypoplasia of the maxilla, Condu... ORPHA:99772
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Umb... OMIM:304120
Greenberg Dysplasia
Retrognathia, Short long bone, Short ribs, Decreased skull ossification, Short metacarpal, Multip... OMIM:215140
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Sparse hair, Long... OMIM:257850
Mmep Syndrome
Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot, Median cleft upper lip ORPHA:3434
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Burn-Mckeown Syndrome
Thin vermilion border, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Narrow mout... OMIM:608572
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Agnathia-Otocephaly Complex
Tracheomalacia, Synotia, Low-set ears, Mandibular aplasia, Narrow mouth, Conductive hearing impai... OMIM:202650
Perching Syndrome
Scoliosis, Cyanosis, High palate, Camptodactyly OMIM:617055
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Low-set, posteriorly rotated ears, Webbed neck, Slender long b... ORPHA:1486
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulde... ORPHA:10
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... ORPHA:750
Gordon Syndrome
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, High palate, Limitation of joint mobi... ORPHA:376
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment... OMIM:608154
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Syndactyly, Sparse ha... OMIM:129400
Acrootoocular Syndrome
Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Short metacarpal, Smal... ORPHA:2980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Talipes calcaneovarus, Furrowed tongue, Large hands, Protruding e... OMIM:300534
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Pycnodysostosis
Hypoplastic iliac wing, Acromelia, Mesomelia, Joint hypermobility, Delayed eruption of primary te... ORPHA:763
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, 11 pairs of ribs, Talipes, Renal hypoplasia, Chronic kidne... OMIM:617661
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Gingival fibromatosis, Delayed eruption of... ORPHA:2027
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Abnormality of the inner ear, Aplasi... ORPHA:2549
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Intestinal malrotation, Cyst... OMIM:269860
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Microtia, Ectopic anus... ORPHA:2994
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding,... OMIM:101600
Lethal Congenital Contracture Syndrome 10
Narrow palate, Adducted thumb, Stiff neck, Torticollis, Femoral bowing, Low-set ears, High palate... OMIM:617022
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Short long bone, Narrow mouth, Bowing of the long bones, Micromelia, Mic... OMIM:224410
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... OMIM:271650
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the hand, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Ab... ORPHA:1387
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Coffin-Siris Syndrome 3
Long philtrum, Hirsutism, High palate, Sparse scalp hair, Long eyelashes, Hearing impairment, Cle... OMIM:614608
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Crypto... ORPHA:281090
Microphthalmia, Syndromic 8
Orofacial cleft, Premature skin wrinkling, Mandibular prognathia, Split foot, Cleft upper lip, Cl... OMIM:601349
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Sensorineural hearing impairment, Long philtrum, Abnormality of the ear, Coxa... OMIM:214150
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation... OMIM:245650
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius ORPHA:1149
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... ORPHA:181
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Tooth agenesis, Flattened epiphysis, Joint hypermobility, Coxa valga, Small epip... OMIM:618363
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Toe syn... OMIM:258865
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Aarskog-Scott Syndrome
Radial deviation of finger, Syndactyly, Broad philtrum, Joint hypermobility, Short 5th finger, Br... OMIM:305400
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Renal ag... OMIM:212780
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th finger, Dental crowding, 2... ORPHA:476126
Joubert Syndrome 18
Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Posta... OMIM:614815
Char Syndrome
Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Symphalangism of the 5th finger... ORPHA:46627
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Long philtrum, Abnormality of the hand, Clinodactyly of the 5th finger, High palate, ... ORPHA:576283
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Broad neck, Hypoplastic iliac wing, Microtia, Short long bone, Short metacarpal, Wide mouth, Long... OMIM:611717
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Broad finger, Widow's peak, Abnormal pinna morphology, Upturned corners of mout... OMIM:614684
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal hair quantity, High palate, L... ORPHA:3098
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Dental crowding, Widow's peak, Coronal craniosynostosis, Micrognathia, Nat... OMIM:145420
Spinocerebellar Ataxia, Autosomal Recessive 20
Oligosacchariduria, Delayed eruption of teeth, Sensorineural hearing impairment, Dental crowding,... OMIM:616354
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Patellar hypoplasia, Recurrent respiratory infections, Hypoxemia, Microgn... ORPHA:2257
Juberg-Hayward Syndrome
Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal metacarpal morpholo... ORPHA:2319
Weaver Syndrome
Abnormal metaphysis morphology, Retrognathia, Long philtrum, Pes cavus, Low-set, posteriorly rota... ORPHA:3447
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Finger aplasia OMIM:276822
Weaver Syndrome
Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short... OMIM:277590
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, High palate, Hypoplasia of the maxilla, Macrotia, Long fingers, Respiratory t... OMIM:218000
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Gingival overgrowth, Macrotia, Micrognathia, Cleft palate, Short distal phalanx of f... ORPHA:2013
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Abnormality of th... ORPHA:3268
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Highly arched eyebrow, Ma... ORPHA:94066
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Genu varum,... ORPHA:2753
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Mandibular prognathi... OMIM:269300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Short neck, Thin upper lip vermilion ORPHA:2015
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short ribs, L... ORPHA:50945
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Alg3-Cdg
Osteopenia, Neural tube defect, Abnormal pinna morphology, High palate, Abnormal uvula morphology... ORPHA:79321
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Enamel hypopla... OMIM:166750
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, 4-5 toe syndactyly, Hea... OMIM:308050
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Microdontia, Tooth agenesis, Micrognathia, Short ... ORPHA:633
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate, Microretrognathia, Alopecia OMIM:600331
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges... ORPHA:2256
Larsen Syndrome
Multiple carpal ossification centers, Knee dislocation, Short metacarpal, Dislocated wrist, Joint... OMIM:150250
Roifman-Chitayat Syndrome
Osteopenia, Short metatarsal, Ectopic kidney, Arthritis, Thin lower lip vermilion, Short metacarp... OMIM:613328
Achondrogenesis Type 1A
Short foot, Abnormal enchondral ossification, Thickened nuchal skin fold, Micromelia, Short palm,... ORPHA:93299
Auriculocondylar Syndrome 1
Dental malocclusion, Anterior open-bite malocclusion, Stenosis of the external auditory canal, Ma... OMIM:602483
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... ORPHA:1798
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Palmoplantar keratoderma, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Nephrolith... ORPHA:1816
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhiker thumb, S... OMIM:614078
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Trisomy 4P
Abnormal palate morphology, Radial club hand, Low-set, posteriorly rotated ears, Hypospadias, Abn... ORPHA:1738
Wiedemann-Steiner Syndrome
Broad lateral eyebrow, Highly arched eyebrow, Generalized hypertrichosis, Low posterior hairline,... OMIM:605130
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, High palate, Short foot, Low posterior hairline, Short 5th finger, Clinodactyly, ... OMIM:300577
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Omodysplasia 1
Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Fibular... OMIM:258315
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thi... OMIM:618658
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Premature ovarian insufficiency, Unilateral renal agenesis, Hypospadia... ORPHA:363444
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis,... OMIM:163400
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Abnormal eyebrow m... ORPHA:2496
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Sparse axillary hair, Absent radius, Aplasia of the... OMIM:181450
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Umbilical hernia, Long ph... OMIM:265000
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Pitt-Hopkins Syndrome
Narrow foot, Wide mouth, Thickened helices, Aganglionic megacolon, Short philtrum, Tooth malposit... ORPHA:2896
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Abnormal enchondral ossification, Thickened nuchal skin fold, Mi... ORPHA:93298
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-s... OMIM:218400
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Lim... OMIM:619142