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Gene: Sc5d MGI:1353611

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sterol-C5-desaturase

Synonyms:

A830073K23Rik

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 Sc5d 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 Sc5d (2 diseases)
Human diseases predicted to be associated with Sc5d (1359 diseases)

The table below shows human diseases associated to Sc5d by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lathosterolosis		Abnormal thoracic spine morphology, Hepatomegaly, Toe syndactyly, Talipes, Micrognathia, Intrahep...	ORPHA:46059
Lathosterolosis		Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Micrognathia, Intrahepatic c...	OMIM:607330

The table below shows human diseases predicted to be associated to Sc5d by phenotypic similarity.

Disease	Matching phenotypes	Source
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Splen...	ORPHA:3035
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, M...	OMIM:210720
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Fibrochondrogenesis 1	Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Poster...	OMIM:228520
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Ne...	OMIM:108720
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom...	ORPHA:294975
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Polyhydramnios, Narrow chest, Neonatal short-limb short stature, Severe limb shorteni...	OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Missing rib...	OMIM:617866
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobati...	ORPHA:958
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Shox-Related Short Stature	Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ...	ORPHA:314795
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch...	ORPHA:163966
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,...	ORPHA:93324
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Micrognathia, Postnatal growt...	OMIM:619135
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Achondroplasia	Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing o...	OMIM:100800
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Polyhydramnios, Coxa valga, Micrognat...	OMIM:608149
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Cupped ribs, Metaphyseal widening, De...	OMIM:608940
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat...	OMIM:223800
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, F...	OMIM:274000
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
3M Syndrome	Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:2616
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Severe short stature, Short stature, Short thorax, D...	OMIM:612921
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci...	OMIM:300232
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Death in childhood, Br...	OMIM:613848
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs...	OMIM:620076
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Micrognathia, Cleft palate, Thin ribs, Slender long bon...	OMIM:618265
Multiple Pterygium Syndrome, X-Linked	Edema, Cleft upper lip, Micrognathia, Polyhydramnios, Flexion contracture, Cleft palate, Thin rib...	OMIM:312150
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly	ORPHA:2935
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Postnatal growth retardation, Abnormal...	ORPHA:73230
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Sh...	OMIM:269860
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Short stature, Bowing of the legs, Metaphyseal scl...	OMIM:250400
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra...	OMIM:601559
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Bowen-Conradi Syndrome	Death in infancy, Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Crypt...	ORPHA:1270
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Beaded ribs, Tibial bowing, Bel...	OMIM:166210
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Polyhydramni...	ORPHA:1427
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of...	ORPHA:1765
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi...	ORPHA:93356
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Small hand, Thin ribs...	OMIM:244460
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ...	OMIM:612651
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis, Foot o...	ORPHA:2879
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Hernia of the...	ORPHA:1277
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Fl...	OMIM:620369
Multiple Pterygium Syndrome, Lethal Type	Edema, Micrognathia, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Pulmonary hypo...	OMIM:253290
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Thin ribs, Slender long...	OMIM:259420
Kniest Dysplasia	Hip contracture, Inguinal hernia, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Delaye...	OMIM:156550
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add...	ORPHA:2804
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Rocker bottom foot, Micrognathia	OMIM:211180
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening	OMIM:183700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:277440
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide...	OMIM:182212
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, De...	OMIM:114290
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Narrow chest, Hypoplasia of the ulna,...	OMIM:200980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio...	ORPHA:96334
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Abnormality of the philtrum, Abnormality of the dentition, Abno...	ORPHA:3268
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, High...	OMIM:143095
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, High palate,...	OMIM:619127
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Thin ribs, Kn...	OMIM:618395
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Wide...	OMIM:610915
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodact...	ORPHA:251028
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor...	OMIM:256050
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short pa...	ORPHA:175
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Disproportionate short-limb short stature, Limited pronation/s...	DECIPHER:58
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the...	OMIM:309350
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Short stature, Irregular, rachitic-like met...	ORPHA:289157
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Glass Syndrome	Inguinal hernia, Arachnodactyly, Anterior tibial bowing, Short stature, Dental crowding, Conical ...	OMIM:612313
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Cardiomegaly,...	ORPHA:2463
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Bowing of the legs, Enamel hypomineralization, Trape...	OMIM:307800
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Metaphyseal Anadysplasia	Bowing of the long bones, Short stature, Abnormal morphology of ulna, Abnormality of the lower li...	ORPHA:1040
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, Atelectasi...	OMIM:300219
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Polyhydramnios, Micrognathia, High, narrow palate, Congenital contracture, Hig...	OMIM:208150
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Polyhydramnios, Narrow chest, Short phalanx of finger, Broad metacarpal...	ORPHA:56304
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, B...	OMIM:218600
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ...	OMIM:229850
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Abnormality of the dentition, Micrognathia, Femoral bowing, Thin ribs, ...	OMIM:617952
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Gracile Bone Dysplasia	Death in infancy, Short stature, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypop...	OMIM:602361
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, High...	OMIM:616294
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, High palate, Phocomelia, Short metacarpal, Cryptorchidism, Humer...	ORPHA:3404
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:241530
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Micr...	ORPHA:140
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Accessory oral...	OMIM:617927
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fu...	OMIM:614078
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, Narrow ches...	OMIM:614091
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Fla...	ORPHA:1423
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
Severe Congenital Nemaline Myopathy	Polyhydramnios, Increased connective tissue, Edema of the dorsum of hands, Abnormal thorax morpho...	ORPHA:171430
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Bowing of the ...	OMIM:613849
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas...	OMIM:113000
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Hypoplasia of the maxilla, Congenital generalized lipodystrophy, Genu valgum, Slen...	OMIM:608154
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ...	OMIM:268250
Schneckenbecken Dysplasia	Polyhydramnios, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydrops fetalis, ...	OMIM:269250
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinovarus, Intrauterine growth r...	OMIM:616570
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Ventriculomegaly And Arthrogryposis	Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus, Micrognathia	OMIM:619501
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Polyhydramnios, Undulate ri...	OMIM:618188
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Pectus excavatum, Radial deviation of the 2...	ORPHA:1388
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Abnormal lung l...	OMIM:215140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Foot oligodactyly, High ...	OMIM:276820
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Bronchiect...	OMIM:241600
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Inguinal hernia, Death in infancy, Po...	OMIM:616809
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Short thorax, Abnorma...	ORPHA:85166
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Rhyns Syndrome	Radial bowing, Short stature, Decreased response to growth hormone stimulation test, Pituitary hy...	OMIM:602152
Achondrogenesis Type 1B	Severe short stature, Femoral hernia, Micromelia, Micrognathia, Polyhydramnios, Short thorax, Abn...	ORPHA:93298
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contrac...	ORPHA:666
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysis, ...	OMIM:215045
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,...	OMIM:617102
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Beaded ribs, Micrognathia, Cardiomegaly, Flexion contracture, Hydrops fetalis, De...	OMIM:616897
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short stature, Tibial ...	OMIM:616482
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Multiple lipomas, Hand polydactyly, Sacral lipoma...	OMIM:223200
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops...	ORPHA:2204
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Aplasia/Hypoplasia of the tibia, Sho...	ORPHA:1988
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Short stature, Dental crowding, Limited elbow movement, Micrognathia, Lipoatro...	OMIM:614008
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Hypoplasia ...	OMIM:231070
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Short stature, Micromelia,...	ORPHA:166272
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t...	ORPHA:1570
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Polyhydramnios, Micrognathia, Cryptorchidism, High palate, ...	OMIM:618393
Osteogenesis Imperfecta, Type Xix	Severe short stature, Rhizomelia, Bowing of the legs, Pectus excavatum, Pectus carinatum, Bowing ...	OMIM:301014
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Short stature, Abnormality of the dentition, Avascular necrosis of the capital...	ORPHA:93315
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Abnormal morphology of ulna, Abnormal dental morphology, Abnormality of the dentit...	ORPHA:1837
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Femoral hernia, Micromelia, Micrognathia, Polyhydra...	ORPHA:93299
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Cryptorchidism, Thin ribs, High palate, Retrognathia	ORPHA:456328
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia	ORPHA:1918
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Short stature, Median cleft lip, Micromelia, Micrognathia, Post...	OMIM:241800
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ...	ORPHA:166016
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short metacarpal, Shor...	OMIM:612350
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Pe...	ORPHA:63446
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g...	ORPHA:1803
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Polyhydramnios, Cryptorchidism, Pyloric ste...	ORPHA:169189
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc...	OMIM:609052
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT, Flexion contr...	ORPHA:333
Summitt Syndrome	Syndactyly	OMIM:272350
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, High palate, M...	ORPHA:536467
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Narrow ...	OMIM:264090
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short-limb short stature, L...	ORPHA:156728
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse...	ORPHA:83617
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short stature, Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
Pallister-Hall Syndrome	Gonadotropin deficiency, Abnormal lung lobation, Bifid uvula, Microretrognathia, Mesoaxial polyda...	ORPHA:672
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Talipes, Micro...	ORPHA:1842
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia o...	ORPHA:916
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Short stature, Abnormality of the philtrum, Microm...	ORPHA:1597
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ...	OMIM:614815
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t...	ORPHA:3098
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Cleft palate, Polydactyly, High palate, Short tibia,...	OMIM:300484
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Hydrops fetalis, Narrow chest,...	ORPHA:1865
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly...	ORPHA:798
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala...	ORPHA:2741
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Pectus excavatum, ...	OMIM:258860
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr...	OMIM:619143
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Ectopic kidney, Hypoplasia of the...	OMIM:212780
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Pectus excavatum, Lymphedema, Triangular m...	OMIM:607131
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Cutis Laxa, Autosomal Recessive, Type Ic	Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Periorbital edema, ...	OMIM:613177
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brac...	ORPHA:221054
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly	OMIM:615984
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate,...	ORPHA:2635
Atelosteogenesis Type I	Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, Abnormal ossificatio...	ORPHA:1190
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Premature l...	OMIM:608612
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ...	OMIM:222600
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Microcephaly-Micromelia Syndrome	Micromelia, Missing ribs, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis, Oli...	OMIM:251230
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal car...	ORPHA:93351
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ...	OMIM:211750
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Postaxial polydactyly, Conical tooth, Diastema, Hypoplasia of the maxill...	OMIM:619142
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Short stature, Bowing of the legs, Delayed epiphyse...	OMIM:300554
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cut...	ORPHA:896
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Abnormal rib morphology, Torus palatinus, Clavi...	ORPHA:2790
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin...	OMIM:269150
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Umbilical ...	OMIM:600972
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo...	OMIM:617405
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Achondrogenesis	Inguinal hernia, Severe short stature, Micromelia, Micrognathia, Polyhydramnios, Short thorax, Hy...	ORPHA:932
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Death in infancy, Micromelia, Lymphedema, Pancreatic cyst...	ORPHA:1318
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis...	ORPHA:93329
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Par...	OMIM:617926
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Short stature, Dental crowding, Micromelia, Cryptorchidism, Li...	OMIM:180870
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Short stature, Bowing of the legs, Delayed epiphyse...	OMIM:300009
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad ...	OMIM:618724
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal ...	ORPHA:1354
Asbestos Intoxication	Edema, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstiti...	ORPHA:2302
Acromicric Dysplasia	Short metacarpal, Severe short stature, Narrow mouth, Deep philtrum, Thick lower lip vermilion, C...	OMIM:102370
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi...	ORPHA:168549
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retard...	ORPHA:254531
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t...	ORPHA:3152
Holzgreve Syndrome	Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Abn...	ORPHA:2167
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Lymphedema, Abnormal pelvis bone ossification, Anterior rib...	ORPHA:1426
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, C...	OMIM:615633
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Avascular necrosis of t...	OMIM:132400
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the hand, Abnormality of the dentition, Postnatal growth...	ORPHA:576283
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Wrist...	OMIM:166300
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, In...	ORPHA:2457
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism...	ORPHA:85279
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Posta...	OMIM:136760
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte...	OMIM:602557
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Dental crowding, Hypoglycemia, Lower limb asymmetry, Postnatal growth retardation,...	ORPHA:231140
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu...	OMIM:114300
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis	OMIM:253240
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap...	ORPHA:3082
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Cryptorchidism, Abnormal rib morphol...	ORPHA:1703
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Severe short stature, Abnormal rib morphology, Downturned corne...	ORPHA:2643
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D...	OMIM:255800
Grant Syndrome	Bowing of the long bones, Short stature, Micrognathia, Open bite, Abnormal rib morphology, Abnorm...	ORPHA:2097
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim...	ORPHA:763
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Short h...	ORPHA:2662
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Pectus excavatum, Perianal abscess, Cryptorchidism, Pericardial effusio...	OMIM:614684
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplastic ilia, Wide-cupped costo...	OMIM:187601
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin...	OMIM:224400
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Abnormal metacarpal...	ORPHA:166100
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Deep pa...	OMIM:311900
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Death in c...	OMIM:618961
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Short stature, Hypercholesterolemia, Maturity-on...	OMIM:616222
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped...	OMIM:615222
Hypophosphatasia, Childhood	Short stature, Premature loss of primary teeth, Bowing of the legs, Carious teeth, Rachitic rosary	OMIM:241510
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Cleft Palate-Large Ears-Small Head Syndrome	Short stature, Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation...	ORPHA:2013
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Short stature, Rickets of the lower limbs, Malabsorption, Lower limb a...	ORPHA:289176
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Thin ribs, Pleural effusion, Ascites	OMIM:617397
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple joint contrac...	ORPHA:1662
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Broad long bones, Edema, Short tubular bones of the hand,...	OMIM:200610
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnata...	ORPHA:96184
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Renal cyst, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Renpenning Syndrome	Mandibular prognathia, Severe short stature, Macrodontia, Diabetes mellitus, Pectus excavatum, Ab...	ORPHA:3242
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Anauxetic Dysplasia 3	Recurrent respiratory infections, Short metacarpal, Severe short stature, Thoracolumbar kyphoscol...	OMIM:618853
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi...	ORPHA:2256
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,...	OMIM:181180
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Pectus ex...	ORPHA:776
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Hypoglycemia, Micrognathia, Postnatal growth retardation, Cryptorchi...	ORPHA:397590
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Short stature, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathi...	OMIM:225410
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Flexion contracture, Thin ribs, Narrow mouth, Mild short stature	OMIM:614833
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Dental crowding, Coxa valga,...	OMIM:269300
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infections, S...	OMIM:618950
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, L...	ORPHA:261295
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho...	ORPHA:244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle...	OMIM:617895
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Shor...	ORPHA:2484
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla...	ORPHA:1248
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Short stature, Single transverse palmar crease,...	OMIM:216550
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di...	OMIM:615777
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Talipes calc...	OMIM:300534
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te...	OMIM:620099
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping...	OMIM:184250
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp...	ORPHA:2319
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Chronic sinusitis, Bronchiectasis	OMIM:615294
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Short stature, Dental crowding, ...	ORPHA:251019
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Polydactyly, Short stature	OMIM:615993
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Calf muscle hyp...	ORPHA:254361
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Craniofacial ost...	OMIM:122860
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Hypergl...	OMIM:248370
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor...	ORPHA:79106
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Disproportionate short stature, Acromesomelia, Sprengel anomaly, Brachy...	ORPHA:40
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anter...	ORPHA:2021
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Polyhydramnios, Lateral cl...	OMIM:615503
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, M...	ORPHA:3121
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Cryptorchidism, Short l...	OMIM:224410
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc...	ORPHA:397973
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overlapping fingers, Micrognathia, Cardiomegaly, Hydrops fetalis...	OMIM:617022
Moebius Syndrome	Decreased testicular size, Syndactyly, Brachydactyly, Pes planus, Abnormality of the dentition, M...	OMIM:157900
Meier-Gorlin Syndrome 4	Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, C...	OMIM:613804
Grange Syndrome	Syndactyly, Ventricular septal defect, Short palm	ORPHA:79094
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower...	OMIM:615761
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Short fir...	OMIM:613684
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Short stature, Short distal phalanx of f...	ORPHA:2776
Achondrogenesis Type 2	Short stature, Micromelia, Edema, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossificat...	ORPHA:93296
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Short stature, Dental crowding, Avascular necrosis of...	OMIM:190351
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no...	OMIM:617925
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Short ribs, Hypoplas...	OMIM:173800
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Enlargement of the costochondral jun...	OMIM:271650
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed ossification of carpal bones, I...	OMIM:617974
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Dysostosis, Stanescu Type	Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Micromelia, Abnormali...	ORPHA:1798
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process	OMIM:612913
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short sta...	OMIM:147891
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Arachnodactyly, Cry...	OMIM:201750
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth...	OMIM:210600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Pectus carinatum, High palate, Widely spaced teeth, Advanced eruption ...	ORPHA:192
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Pes planus, Scapular winging, Short stature, Single transverse palmar crease, ...	OMIM:618870
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Webbed neck, High palate, Long philtrum, Short stature, Narrow mouth, Retrognathia,...	OMIM:270450
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Hydrops fetalis, Narrow chest, Neonatal short-limb short stature, D...	ORPHA:50945
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of car...	OMIM:620269
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Short stature, Overlapping toe, Postaxial polydactyly, Tapered finger, ...	OMIM:613792
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Short stature, Micrognathia, Pect...	OMIM:618348
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Short stature, Micromelia, Cardiomegaly, Wide distal fem...	OMIM:613320
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ...	ORPHA:2063
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Short stature, Cleft soft palate, Abnormal...	OMIM:618529
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
Hypertension And Brachydactyly Syndrome	Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac...	OMIM:112410
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short...	OMIM:611717
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe...	ORPHA:245
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Large ...	ORPHA:3447
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Den...	OMIM:225400
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short stature, Abnormal morphology of ulna, High palate, Abnormal metacarpal morphology, Abnormal...	ORPHA:2233
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Lethal Congenital Contracture Syndrome 5	Death in infancy, Polyhydramnios, Flexion contracture, Thin ribs, Congenital contracture	OMIM:615368
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Polyhydr...	OMIM:263210
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Bowing of the legs, Pectus excavatum, Coxa valga, Coxa vara, Bel...	OMIM:619131
Laron Syndrome	Delayed eruption of teeth, Severe short stature, Hypoglycemia, Micrognathia, Short toe, Abnormali...	ORPHA:633
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Sandal gap, Micrognathia...	ORPHA:79322
Hall-Riggs Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Downturned corners o...	ORPHA:2107
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Pectus carinatum, ...	OMIM:300676
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepat...	OMIM:263520
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Flat acetabular roof,...	ORPHA:163649
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Webbed neck, Downturned corners of mouth, Advanced eruption of teeth, Prominence ...	ORPHA:2215
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Short stature, Large tarsal bones, Micrognathia, Pierre-Robin sequence, Fla...	OMIM:215150
Autosomal Recessive Amelia	Polyhydramnios, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplasia/Hyp...	ORPHA:1027
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Abn...	ORPHA:2994
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Polyhydramnios, Hypoplastic ilia, Abnormal sac...	ORPHA:1860
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Monosomy 5P	Microretrognathia, Finger syndactyly, Small hand	ORPHA:281
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari...	OMIM:253000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Anodonti...	ORPHA:90652
Osteogenesis Imperfecta, Type Xv	Short stature, Thin ribs	OMIM:615220
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Malar flattening, Cryptorchidism, Sho...	OMIM:614613
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Postaxial polydactyly, Splenomegal...	OMIM:614576
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop...	ORPHA:1856
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb short stature, Abnorm...	OMIM:225500
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Narrow ches...	OMIM:613610
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Edema, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High palat...	OMIM:266920
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Short stature, Camptodactyly of finger, Abnormality of the dentition, Avascular...	ORPHA:77258
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Umbilical hernia, Poly...	OMIM:169400
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Short stature, Arachnodactyly, Micromelia, Genu valgum, High palate, Umbilical hernia	ORPHA:1035
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Double outlet rig...	OMIM:220210
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of fing...	OMIM:132450
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Lar...	ORPHA:500095
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly	ORPHA:1276
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation...	ORPHA:1529
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis, Pneumothorax, Aspira...	ORPHA:70588
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidi...	OMIM:613823
Thanatophoric Dysplasia	Micromelia, Polyhydramnios, Abnormal sacroiliac joint morphology, Increased nuchal translucency, ...	ORPHA:2655
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Supernumerary nipple, Pectus excavatum, Lower limb asymmetry, Abnormal t...	ORPHA:64755
Distal Deletion 10P	Short stature, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbow, Cle...	ORPHA:1580
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Polyhydramnios, Narrow greater scia...	ORPHA:508533
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Marden-Walker Syndrome	Inguinal hernia, Arachnodactyly, Micrognathia, Postnatal growth retardation, High, narrow palate,...	OMIM:248700
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus, Narrow che...	OMIM:613885
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Oral ulcer	OMIM:620321
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia...	ORPHA:94066
Joubert Syndrome 10	Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Short stature, Micrognathia, Adducted thumb, Uln...	ORPHA:1147
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio...	ORPHA:85184
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Ab...	ORPHA:3015
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Oligodontia, High palate, Nar...	OMIM:224300
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, B...	OMIM:616589
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Micrognathia, High, narrow palate, Abnormal lung loba...	ORPHA:2516
Short Stature-Micrognathia Syndrome	Rhizomelia, Short stature, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, Cr...	OMIM:617164
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Abnormality of the dentition, Growth delay, Epiphyseal stippling, Abno...	ORPHA:177
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu...	ORPHA:2357
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Triploidy	Omphalocele, Finger syndactyly, Hepatomegaly, Intestinal malrotation, Polyhydramnios, Micrognathi...	ORPHA:3376
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ...	OMIM:607326
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Abnormal lung lobation, Short philtrum, Hypoplasia of the thymus, H...	ORPHA:567
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Meckel Syndrome, Type 2	Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ...	OMIM:603194
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno...	ORPHA:93316
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa...	OMIM:619736
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Pectus carinatum, Cone-shaped epiphyses of the pro...	OMIM:190350
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Pes planus, Arachnodactyly, Short stature, Postaxial polydactyly, Tapered ...	OMIM:619721
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec...	ORPHA:2314
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn...	ORPHA:1692
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h...	OMIM:259775
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Sh...	ORPHA:249
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat...	OMIM:602471
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epip...	OMIM:613805
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,...	OMIM:607361
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Emphysem...	ORPHA:289
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, ...	ORPHA:93352
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth...	OMIM:619297
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Decreased response to gro...	ORPHA:2980
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ...	ORPHA:2347
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Short stature, Dental crowding, Fifth finger distal ...	OMIM:257850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb...	ORPHA:404440
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Coxa valga, Grayish e...	ORPHA:582
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Micrognathia, Cleft palate, Genu valgum, Abnormal epiphysis ...	ORPHA:250984
Hypophosphatasia	Bowing of the long bones, Short stature, Abnormality of the dentition, Emphysema, Abnormal rib mo...	ORPHA:436
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wid...	OMIM:187600
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Amelia	OMIM:601163
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Short stature, Dental crowding, Predominantly lower limb lymphedema, Meta...	ORPHA:293939
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney	OMIM:181510
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Missing ribs, Rib fusion, Thin ribs, Short ribs, Pulmonary hypoplasia, Anal atre...	OMIM:271520
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Narrow chest, Hepatic cysts, Brachydactyly	OMIM:613819
Lethal Congenital Contracture Syndrome Type 1	Short stature, Polyhydramnios, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, S...	ORPHA:1486
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Micromelia, Bowing of the legs, Abnormality o...	OMIM:241500
Mosaic Trisomy 9	Micromelia, Micrognathia, Asplenia, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Fing...	ORPHA:99776
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes...	ORPHA:1908
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Short stature, Micrognathia, Cleft palate, Narrow mouth, Malar ...	ORPHA:93946
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Diaphanospondylodysostosis	Inguinal hernia, Missing ribs, Micrognathia, Increased nuchal translucency, Disproportionate shor...	OMIM:608022
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right ventricular hype...	ORPHA:70589
Xylt1-Cdg	Hepatomegaly, Pes planus, Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth dela...	ORPHA:370930
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, Micrognathia, 2...	OMIM:614099
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses...	OMIM:612813
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hi...	ORPHA:2180
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Thin upper lip verm...	ORPHA:3041
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhi...	OMIM:611209
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Supernumerary nipple, Conical tooth, Cleft upper lip, Carious teeth, 2...	OMIM:129400
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Short tubular b...	OMIM:184253
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Wide anterior fontanel, ...	ORPHA:313781
Retinitis Pigmentosa 89	Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr...	OMIM:618955
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Micrognathia, Lymphedema, Protein-losing enteropathy, High palate, Narrow chest, ...	OMIM:235255
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Single transve...	OMIM:247200
Image Syndrome	Cryptorchidism, Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation	ORPHA:85173
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Ground-g...	OMIM:610978
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Short distal ph...	OMIM:180860
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla...	OMIM:612447
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia	OMIM:226700
Nephronophthisis 15	Elevated hepatic transaminase, Polydactyly	OMIM:614845
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Pes planus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingiva...	ORPHA:3473
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Short stature, Ha...	OMIM:311200
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Knee ...	ORPHA:3103
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hepatic steatosis,...	OMIM:615996
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Irregul...	OMIM:250420
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Bicuspid aortic valve, Short finger	OMIM:300049
Trisomy 1Q	Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con...	OMIM:218000
Monosomy 18P	Short stature, Micrognathia, Pectus excavatum, Carious teeth, Lymphedema, Cleft palate, Downturne...	ORPHA:1598
Hydrolethalus	Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Submucous c...	ORPHA:2189
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot, Growth delay, D...	ORPHA:238750
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Micrognathia...	OMIM:616730
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Opsismodysplasia	Edema, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of f...	OMIM:258480
Lowry-Maclean Syndrome	Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal...	ORPHA:2050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syn...	OMIM:236500
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Gm1 Gangliosidosis	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Short stature, Camptoda...	ORPHA:354
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Cryptorchidism	OMIM:616910
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery ...	OMIM:616894
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of...	ORPHA:710
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High pal...	ORPHA:1784
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal diaphys...	ORPHA:1515
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Hamartoma of tongue, Micrognathia, Bilateral cr...	ORPHA:2754
Acrocraniofacial Dysostosis	Short stature, Tapered finger, Pectus excavatum, Coxa valga, Micrognathia, Cleft palate, Ulnar de...	ORPHA:949
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Abnormal palate morp...	ORPHA:93262
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Webbed neck, Knee dis...	ORPHA:536532
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the denti...	ORPHA:1794
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Malformation of the hepatic ductal plate, Pos...	OMIM:614175
Chand Syndrome	Short fifth metatarsal, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre...	ORPHA:1401
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Polyhydramnios, Increased nuchal translucency, Short thorax, Aplasia/H...	ORPHA:93274
Short Syndrome	Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Glucose intolerance, Hyperglycemia...	OMIM:269880
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Short stature, Abnormal fingertip morphology, Abnormality of...	ORPHA:90154
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Webbed neck, Anteriorly placed anus, Gl...	OMIM:117650
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Scapular winging, Short metacarpal, ...	OMIM:272460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist flexion contracture, ...	ORPHA:254528
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac...	ORPHA:481152
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hypoglycemia, Polyhydramnios, Hip dislocation, High palate, Limb undergrowth, Intr...	OMIM:618005
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo...	ORPHA:1120
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Pulmonary edema	ORPHA:70587
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep...	ORPHA:397715
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe...	ORPHA:2886
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Fib...	OMIM:164745
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hernia, Polydactyly, Smooth philtrum	OMIM:602501
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib...	ORPHA:1834
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v...	ORPHA:90653
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Edema, Pulmonary edema	OMIM:267450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding, Arachnodactyl...	OMIM:309520
48,Xxxy Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Open bi...	ORPHA:96263
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly...	ORPHA:1328
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Short stature, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, Pectus carinatum, Webbed neck, Knee ...	OMIM:245600
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact...	ORPHA:2437
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Short stature, Pneumonia, Limited elbow movement, Limited wri...	OMIM:617809
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis	ORPHA:922
Microcephaly-Capillary Malformation Syndrome	Short stature, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy, Clinodacty...	OMIM:614261
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Arachnodactyly, Long palm, Abnormality of the philtrum, Missing...	ORPHA:2759
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Decreased response to growth hor...	ORPHA:1855
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycem...	ORPHA:769
Postaxial Acrofacial Dysostosis	Cryptorchidism, Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nip...	OMIM:263750
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Polyhydramnios, Coxa vara, Pectus carinatum, High palate, Wrist flexion...	ORPHA:800
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M...	OMIM:610682
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Ova...	OMIM:109400
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ...	ORPHA:457395
Larsen-Like Syndrome	Short stature, Wide anterior fontanel, Dental malocclusion, Cleft palate, Talipes equinovarus, Ra...	OMIM:608545
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Omphalocele, Flexion contracture, Cleft palate, Deat...	OMIM:619124
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Persistenc...	ORPHA:37553
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, In...	ORPHA:3305
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Abnormal rib morphology, Cleft palate, Femoral ...	ORPHA:83
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital dia...	ORPHA:1488
Prader-Willi Syndrome Due To Imprinting Mutation	Short stature, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morphology	ORPHA:177910
Eem Syndrome	Carious teeth, Finger syndactyly, Ectrodactyly	ORPHA:1897
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Polyhydramnios, Tapered finge...	OMIM:618975
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Increased connective tissue, Atele...	ORPHA:258
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Maternal diabetes, Preaxial hand polydactyly, Non...	ORPHA:2549
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Micrognathia, Increased intraabdominal fat, Advanced e...	ORPHA:280365
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Enthesitis, Abnormal dentin...	ORPHA:89936
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Micrognathia, Cryptorchidism, Abnormal rib morphology, Chol...	ORPHA:52
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym...	ORPHA:2902
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Dentinogenesis imperfecta, Pectus carinatum, Disproportionate shor...	OMIM:259440
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Polyhydramnios, Preaxial hand po...	ORPHA:887
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb,...	ORPHA:436003
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, ...	OMIM:300373
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Short stature, Single transverse palmar crease, Intestinal ...	OMIM:614701
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Flexion contractu...	ORPHA:95699
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea...	ORPHA:59315
Dysspondyloenchondromatosis	Short stature, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Metaphyseal enchond...	ORPHA:85198
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Splenomegaly, Thick lower lip vermilion, Disproportionate short-...	ORPHA:583
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Ground-glass opacification, Atelectasis, Bronchiectasis, ...	OMIM:620233
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Cryptorchidism, Abnormal rib morphology, Disproportionate short-limb short stature, I...	ORPHA:2772
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormal finger morphology,...	ORPHA:3138
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ...	OMIM:151200
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Overlapping toe, Short stature, Severe periodontitis, Protru...	ORPHA:99843
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Single transverse palmar crease, ...	OMIM:214110
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Cholestasis, Polydactyly, Hepatic fibrosis, Chronic bronchitis	OMIM:616629
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P...	OMIM:180849
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Polyhydramnios, Micrognathia, Recurrent pneumonia...	OMIM:609465
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ...	ORPHA:79107
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Median cleft lip, Accessory oral frenulum, Abnormality of the dent...	OMIM:258865
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Accessory spleen, Severe short stature, Rhizomelia, Over...	ORPHA:3379
Ciliary Dyskinesia, Primary, 1	Pneumonia, Absent frontal sinuses, Atelectasis, Asplenia, Bronchiectasis, Chronic sinusitis, Recu...	OMIM:244400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ...	ORPHA:488642
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly	OMIM:619092
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:213980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def...	OMIM:600987
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Mandibular prognathia, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Rhizomelia, Abnormality of the dentition, Flat capital femo...	OMIM:271510
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Micrognathia, ...	OMIM:615065
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Retrognathia, Camptodactyly of finger, Micrognathia	ORPHA:2521
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Micrognathia	ORPHA:1514
Shprintzen-Goldberg Syndrome	Pes planus, Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, M...	ORPHA:2462
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, Abnor...	ORPHA:818
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Edema, Protruding tongue, Respiratory tract infection, Gingival ov...	ORPHA:93400
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal ph...	OMIM:612938
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Atelosteogenesis Type Iii	Polyhydramnios, Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Sho...	ORPHA:56305
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Short stature, Camptodactyly ...	ORPHA:2311
Marshall Syndrome	Short stature, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Thick lower...	ORPHA:560
Aspergillosis	Sinusitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal rib morp...	ORPHA:1163
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Air crescent sign, Colitis, ...	ORPHA:73263
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum, Annular pancreas, ...	OMIM:618162
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Non-mi...	ORPHA:2075
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ...	ORPHA:178303
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Dihydropyrimidinase Deficiency	Growth delay, Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine ...	ORPHA:1506
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Micrognathia, Pectus exc...	ORPHA:2522
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Po...	OMIM:617088
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat...	OMIM:249000
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat...	ORPHA:2876
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clino...	OMIM:616145
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short stature, Hypoplastic ilia, H...	ORPHA:93333
Ring Chromosome 21 Syndrome	Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Clinodactyly	ORPHA:1445
Frank-Ter Haar Syndrome	Micrognathia, High palate, Short palm, Short phalanx of finger, Wide anterior fontanel, Gingival ...	OMIM:249420
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Calcaneal epiphyseal stippling, Proportionate short stature, Po...	ORPHA:79345
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Short stature, Wide distal femoral metaphysis, Femoral bowing,...	OMIM:614856
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Decreased response to growth hormone stimulation test, Elevated circulating lutein...	OMIM:300845
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, ...	OMIM:256520
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Abnormal shoulder morpholog...	ORPHA:1422
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology,...	ORPHA:94068
Biemond Syndrome Type 2	Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Feingold Syndrome	Hallux valgus, Toe syndactyly, Short stature, Micrognathia, Esophageal atresia, Abnormality of th...	ORPHA:1305
Pycnodysostosis	Short stature, Aplastic clavicle, Persistence of primary teeth, Delayed eruption of primary teeth...	OMIM:265800
Desmosterolosis	Severe short stature, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus adductus, Sple...	ORPHA:35107
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lowe...	OMIM:616462
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Meckel Syndrome, Type 11	Polydactyly, Oligohydramnios	OMIM:615397
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnio...	ORPHA:373
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, Pectus carin...	OMIM:130070
Rothmund-Thomson Syndrome Type 2	Facial edema, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum,...	ORPHA:221016
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Edema, Postnatal growth retardation, Polyhydramnios, Abnormal ...	OMIM:302960
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Protruding tongue, Splenomegaly, Gingival overgrowth, Hypoplastic verte...	OMIM:230600
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac...	OMIM:619451
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus cari...	ORPHA:3107
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb,...	ORPHA:313855
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Flared metaphysis, Growth delay, Metaphyseal cupping, Genu varum	OMIM:619073
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Short stature, Carious teeth, Hypoplasia of the maxilla, H...	ORPHA:50814
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Bilateral single transverse palmar creases, Microretrogn...	ORPHA:3380
Joubert Syndrome 37	Hepatomegaly, Short stature, Postaxial polydactyly, Cryptorchidism, High palate, Decreased testic...	OMIM:619185
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Short stature, Persistence of primary...	ORPHA:97360
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,...	OMIM:614800
Shwachman-Diamond Syndrome 2	Hepatomegaly, Death in infancy, Short stature, Anterior rib cupping, Exocrine pancreatic insuffic...	OMIM:617941
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, Recurrent pneumonia, High palate, Polyda...	ORPHA:314655
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Talipes, Flexion contracture, Limb undergrowth, Intrauterine gro...	ORPHA:79243
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia	ORPHA:195
Spondylospinal Thoracic Dysostosis	Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Arthrogryposis multi...	OMIM:601809
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis	ORPHA:251046
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology,...	ORPHA:2095
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Agangli...	OMIM:174300
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ...	ORPHA:794
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Renovascular hypertension, Finger clinodactyly, Renal artery s...	OMIM:602531
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Abnormality of the liver, High palate, Triphalangeal thu...	ORPHA:84
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Polyhydramnios, Micrognathia, Postnatal ...	ORPHA:1655
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Micr...	ORPHA:994
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Short stature, Narrow chest	ORPHA:1861
Distal Duplication 5Q	Hypoplasia of the ulna, Short stature, Absent thumb, Carious teeth, Micrognathia, Cryptorchidism,...	ORPHA:96097
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Severe short stature, Micrognathia, High, narrow palate, Facial hypero...	ORPHA:2780
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Short palm, Retr...	ORPHA:73246
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth...	OMIM:601216
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cl...	ORPHA:1752
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger...	ORPHA:2710
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Wide anterior fontanel, Cryptorchidism, Pi...	OMIM:217980
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High palate, Clinodactyly ...	OMIM:210730
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/...	ORPHA:1647
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng...	ORPHA:2475
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Decreased testicular size, Anal ...	ORPHA:93950
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
C Syndrome	Micromelia, Micrognathia, Congenital diaphragmatic hernia, Polyhydramnios, High palate, Clinodact...	ORPHA:1308
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante...	OMIM:305450
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Absent nipple, Lipodystrophy, Micrognathia, Hyp...	OMIM:209885
Laurence-Moon Syndrome	Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cleft, Abnormal sternu...	ORPHA:2990
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:615108
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Narrow chest, Widely s...	OMIM:618268
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Micromelia, Flexion contracture, Thin vermilion border, Camptod...	OMIM:610015
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Short stature, Abnormal dental enamel morphology, Macrodon...	ORPHA:2916
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft pal...	OMIM:619184
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Distal clavicular thinning, Micromelia, Bell-shaped thora...	OMIM:600092
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Short stature, ...	OMIM:134780
Infantile Systemic Hyalinosis	Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorpt...	ORPHA:2176
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Joubert Syndrome 33	Syndactyly	OMIM:617767
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Missing ribs, Short thorax, Abnormal rib ...	ORPHA:1797
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Microdontia, Disproportionate short stature, Coxa v...	ORPHA:2637
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Tapered finger, Cleft lip, Hepatosple...	OMIM:301066
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia,...	OMIM:616362
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, P...	OMIM:312870
Momo Syndrome	Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Femoral...	ORPHA:2563
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Silver-Russell Syndrome 3	Syndactyly, Small hand, Clinodactyly of the 5th finger, Retrognathia, Penoscrotal hypospadias	OMIM:616489
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hallux, Tapered fing...	OMIM:608156
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se...	OMIM:607323
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Long palm, Single transverse palm...	OMIM:309583
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Supernumerary nipple, Conical tooth, Cleft upper lip, Hypoplasia of the...	OMIM:106260
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Tracheoesophageal fistula, Pec...	ORPHA:3068
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal ...	ORPHA:96061
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Hypoplasia of the maxilla, Broad palm, Narrow palate,...	OMIM:277600
Cerebrofacioarticular Syndrome	Syndactyly, Irregular dentition, Anal stenosis, Short stature, Micrognathia, Hypoplasia of the ma...	ORPHA:314679
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morpholo...	ORPHA:7
Bardet-Biedl Syndrome 1	Dental crowding, High, narrow palate, High palate, Hepatic fibrosis, Syndactyly, Insulin resistan...	OMIM:209900
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Micromelia, Postaxial hand pol...	OMIM:200995
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Malar flattening, Short phal...	OMIM:600430
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Hypoparathyroidism, Bilateral single transverse palmar creases, Palpebral edema...	ORPHA:50810
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Stüve-Wiedemann Syndrome	Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnormality of the ...	ORPHA:3206
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Missing ribs, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal lun...	ORPHA:3301
Neu-Laxova Syndrome	Abnormality of the philtrum, Micromelia, Micrognathia, Polyhydramnios, Trismus, Submucous cleft h...	ORPHA:2671
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti...	OMIM:119800
Septooptic Dysplasia	Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	OMIM:182230
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum, Clinodactyly...	ORPHA:228396
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Sever...	ORPHA:319675
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Webbed neck, S...	ORPHA:2345
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Metaphyseal widening, Short stature, Tibial bowing	OMIM:259770
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Short me...	OMIM:608328
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis...	ORPHA:1300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Pectus excavatum, Microvesicular he...	OMIM:618278
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of t...	OMIM:616738
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:615109
Schisis Association	Omphalocele, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate...	ORPHA:63862
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Growt...	OMIM:619269
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t...	ORPHA:1225
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o...	OMIM:161200
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu...	ORPHA:391474
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Short stature, Hypoglycemia, Malabsorption, Micrognathia, Recurrent upper respirato...	OMIM:233600
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Recurrent respiratory infections, Short stature, Camp...	ORPHA:93473
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Air bronchogram, Rec...	OMIM:306400
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Hypopituitarism, Cleft upper lip, Cryptorchidism, ...	OMIM:603671
Craniofacioskeletal Syndrome	Barrel-shaped chest, Thin upper lip vermilion, Absent gallbladder, Pes planus, Short stature, Mic...	OMIM:300712
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Carious teeth, Small hand, Hypo...	ORPHA:1786
Dyskeratosis Congenita	Hypoplasia of the maxilla, Periodontitis, Hepatomegaly, Short stature, Abnormal testis morphology...	ORPHA:1775
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, High palate, Short philtrum, Hypoplasi...	OMIM:188400
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Downturne...	ORPHA:199
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ...	OMIM:619479
Rothmund-Thomson Syndrome Type 1	Facial edema, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Short metaca...	ORPHA:221008
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Malar flattening	OMIM:109120
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Decreased respons...	ORPHA:488632
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodacty...	ORPHA:158687
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T...	ORPHA:2473
Achard Syndrome	Arachnodactyly, Micrognathia	OMIM:100700
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar...	ORPHA:536471
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Short stature, Postaxial polydactyly, Tapered finger, Abnormali...	OMIM:300968
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing...	ORPHA:508488
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence	OMIM:615284
9Q21.13 Microdeletion Syndrome	Talipes, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Downturned cor...	ORPHA:531151
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Ventricular septal defect,...	ORPHA:2008
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Facial edema, Atelectasis, Fulminant hepatitis, Periorbital edema,...	ORPHA:319213
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnor...	ORPHA:2907
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca...	ORPHA:2970
Feingold Syndrome Type 1	Renal insufficiency, Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, ...	ORPHA:391641
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Pectus excavatum,...	ORPHA:77301
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Polyhydramnios, High p...	ORPHA:2059
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Polyhydramnios, Cleft...	OMIM:616038
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Subvalvular aortic stenosis	ORPHA:1338
Branchioskeletogenital Syndrome	Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Anteriorly placed anus, D...	ORPHA:1299
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ...	ORPHA:2636
17Q12 Microduplication Syndrome	Atrial septal defect, Finger syndactyly, Toe syndactyly	ORPHA:261272
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Pyknoachondrogenesis	Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Hypoplastic ischia, Sh...	ORPHA:3003
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Short palm, Cleft upper lip, Esophageal ...	ORPHA:93271
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Sprengel ano...	OMIM:601076
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda...	OMIM:617063
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Broad hallux, Short stature, Cle...	OMIM:304110
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi...	OMIM:619762
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Pectus carinatum, Downturned corners of mouth, Periodontiti...	ORPHA:955
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Pes planus, Short stature, Congenital diaphragmatic hernia, Micrognathi...	OMIM:301022
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Pericardial lymphangiectasia, Camptodactyly	OMIM:616006
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Flarin...	OMIM:250250
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Talipes, Congenital diaphragmatic hernia, Abnormal tibia morphol...	ORPHA:1335
Hypoglossia-Hypodactylia	Adactyly, Split hand, Retrognathia, Micrognathia	OMIM:103300
Cardiofaciocutaneous Syndrome	Short stature, Abnormal morphology of ulna, Lymphedema, Pectus excavatum, Cryptorchidism, Submuco...	ORPHA:1340
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Irregular c...	OMIM:252600
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Postnatal growth retardation, Hypoplasia of the maxilla, Clinod...	ORPHA:251061
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Joubert Syndrome 23	Polydactyly	OMIM:616490
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Pericardial effusion, Cutaneous syndactyly, Micropenis, Talipes eq...	OMIM:617822
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Hypospadias, Long f...	OMIM:618316
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Lipomas of eyelids	OMIM:167730
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars...	ORPHA:85199
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Growth delay, Short philtrum, Ma...	OMIM:614424
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered f...	ORPHA:435938
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Pectus carinatum, Glossoptosis, Advanced eruption of tee...	ORPHA:828
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors	OMIM:618737
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Missing ribs, Elbow dislocation, Carious teeth, Abnorma...	ORPHA:2769
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi...	ORPHA:1323
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly	ORPHA:1997
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Insulin resistance, Tooth malp...	OMIM:616541
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal h...	ORPHA:369891
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:158350
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal ...	ORPHA:404448
Joubert Syndrome 16	Polydactyly	OMIM:614465
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Cryptorchidism, Supernumera...	OMIM:616580
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Short stature, Abnormal oral...	ORPHA:2673
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou...	ORPHA:280
Lymphangioleiomyomatosis	Recurrent respiratory infections, Lymphedema, Atelectasis, Pneumothorax, Chylopericardium, Pulmon...	ORPHA:538
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Short stature, Selecti...	ORPHA:2909
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospa...	ORPHA:217346
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cl...	OMIM:243605
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Lathosterolosis	Abnormal thoracic spine morphology, Hepatomegaly, Toe syndactyly, Talipes, Micrognathia, Intrahep...	ORPHA:46059
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Distal Deletion 19P	Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Keloids, Short...	ORPHA:96129
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Polyhydramnios, Coxa valga, Postnatal growth retardati...	ORPHA:254519
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Supernumerary tooth, Small hand, Malar flattening, Short 4th met...	ORPHA:1787
Cerebrocostomandibular Syndrome	Death in infancy, Short stature, Micrognathia, Posterior rib gap, Cleft palate, Bell-shaped thora...	ORPHA:1393
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Short stature, Abnormality of the dentition, Hypopl...	OMIM:617140
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, High, narrow p...	ORPHA:1101
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Brachydactyly, Death in infancy, Proximal placement of thumb, Tali...	OMIM:615789
Osteogenesis Imperfecta, Type Xvii	Short stature, Bowed humerus, Dentinogenesis imperfecta, Hip dislocation, Thin long bone diaphyse...	OMIM:616507
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, Rig...	OMIM:616028
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Overlapping toe, Single transverse palmar crease, Hypospadias, Tapered...	OMIM:619148
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Oligohydramnios, Postaxial polydactyly, Cryptorchidism	OMIM:615824
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Short stature, Micrognathia, Long fingers, Cryp...	OMIM:300960
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, E...	OMIM:182250
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Chromos...	OMIM:614083
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology	ORPHA:3224
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Short philtrum	ORPHA:93945
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Pes planu...	ORPHA:93
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Bohring-Opitz Syndrome	Syndactyly, Ventricular septal defect, Overlapping toe, Ulnar deviation of the wrist, Tapered fin...	OMIM:605039
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly	OMIM:618087
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Seve...	ORPHA:2399
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Pectus excavatum, Cleft ...	OMIM:201180
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hypospadias, Hand polydactyly, Broad thumb	OMIM:239710
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Flexion contracture, Elevat...	ORPHA:365
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Short stature, Dental crowdin...	ORPHA:261323
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Restrictive Dermopathy 1	Polyhydramnios, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Wide...	OMIM:275210
Larsen Syndrome	Short metatarsal, Pectus carinatum, Knee dislocation, Hypoplastic cervical vertebrae, Short metac...	OMIM:150250
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Disproportionate...	OMIM:619698
Larsen Syndrome	Finger syndactyly, Short stature, Cryptorchidism, Accessory carpal bones, Cleft palate, Abnormal ...	ORPHA:503
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Narrow chest, Hypo...	OMIM:612731
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
3Mc Syndrome 3	Short stature, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Growth delay,...	OMIM:248340
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Ventricular septal defect, Single transverse palmar cre...	ORPHA:464738
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation tes...	OMIM:610829
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Micrognathia, Complete atrioventric...	OMIM:611174
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly, Micrognathia...	ORPHA:2604
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Anterior pituitary hypoplasia, Mult...	ORPHA:464306
Monosomy 9P	Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro...	ORPHA:261112
Degcags Syndrome	Polyhydramnios, Micrognathia, High palate, Syndactyly, Hepatomegaly, Hiatus hernia, Short thumb, ...	OMIM:619488
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Pes planus	OMIM:618302
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, Narrow palate, C...	OMIM:605627
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Short statu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, Micrognathia, High palate, Syndactyly, Broad hallux, Short statu...	ORPHA:353277
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Recurrent respiratory in...	ORPHA:17
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger cli...	ORPHA:306542
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, ...	OMIM:609460
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Short stature, Single transverse palmar crease, Macrodont...	OMIM:148050
Cog1-Cdg	Thin upper lip vermilion, Rhizomelia, Coxa valga, Postnatal growth retardation, Micrognathia, Pie...	ORPHA:263508
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Me...	OMIM:123450
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Missing ribs, Cleft upper lip, Hiatus hernia,...	ORPHA:50
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa...	ORPHA:352665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Widely spaced teeth, Short stature, Cleft ...	ORPHA:268261
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchid...	OMIM:619471
Meckel Syndrome, Type 6	Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate...	OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st...	OMIM:613457
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia	ORPHA:99772
Diamond-Blackfan Anemia 1	11 pairs of ribs, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication...	OMIM:105650
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Polyhydramnios, ...	ORPHA:2166
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia, Carious teeth...	ORPHA:3253
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Abnormal rib morphology, Short foot, Webbed neck, Retrognathia, Thickened cortex of l...	ORPHA:488434
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Polyhydramnios, Micrognathia, Preaxial hand poly...	OMIM:236680
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Short thumb,...	ORPHA:1708
X Small Rings	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact...	ORPHA:96201
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Hajdu-Cheney Syndrome	Inguinal hernia, Short stature, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Cry...	OMIM:102500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism,...	OMIM:601499
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Polyhydramnios, Micrognathia, Cryptorchidism, ...	OMIM:620025
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ...	ORPHA:1005
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Bra...	ORPHA:861
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Tooth abscess, Bowing of the legs	ORPHA:89937
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Syndactyly, Arachnodact...	OMIM:610168
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnorm...	ORPHA:2519
Osteogenesis Imperfecta, Type I	Otosclerosis, Femoral bowing, Hip dysplasia, Thin skin, Finger joint hypermobility, Dentinogenesi...	OMIM:166200
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Abno...	ORPHA:2975
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,...	ORPHA:3255
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abnormal foot morp...	ORPHA:1666
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microdontia, Disl...	ORPHA:2044
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,...	OMIM:615849
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Blepharocheilodontic Syndrome 1	Clinodactyly, Cutaneous syndactyly	OMIM:119580
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Hypospadias, Deep pal...	ORPHA:254346
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Abnormal rib morphology, Type II diabetes mellitus, Abnormality of the humeroulnar...	ORPHA:2234
Peters Plus Syndrome	Micromelia, Micrognathia, Polyhydramnios, Webbed neck, Abnormal pulmonary vein morphology, Widely...	ORPHA:709
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Choanal Atresia	Recurrent respiratory infections, Chronic sinusitis, Polydactyly	ORPHA:137914
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Wi...	ORPHA:920
Kbg Syndrome	Finger clinodactyly, Congenital malformation of the left heart, Single transverse palmar crease, ...	ORPHA:2332
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Abnor...	ORPHA:2092
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue...	ORPHA:564
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Knee dislocation, Hepatic fibrosis, Neonata...	OMIM:619534
Legius Syndrome	Short stature, Non-small cell lung carcinoma, Ovarian neoplasm, Diaphyseal dysplasia, Multiple li...	ORPHA:137605
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Short stature, Postaxial polydactyly, Micrognathia, Triangular mouth,...	OMIM:618460
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Ab...	ORPHA:974
Crouzon Syndrome	Hypoplasia of the maxilla, Narrow palate	ORPHA:207
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Craniosynostosis And Dental Anomalies	Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Broad hallux, Short stature, Den...	OMIM:614188
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, Psoriasiform dermatitis, Submucous cleft soft palate, ...	ORPHA:69085
Ring Chromosome 12 Syndrome	Syndactyly, Secundum atrial septal defect, Abnormal 5th finger morphology, Glandular hypospadias,...	ORPHA:1439
Occipital Horn Syndrome	Short humerus, Pes planus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-ham...	OMIM:304150
Slc39A8-Cdg	Short stature, Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of toes,...	ORPHA:468699
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Decreased respo...	OMIM:604292
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Hepatomegaly, Inguinal hernia, Recurrent...	ORPHA:581
Fanconi Renotubular Syndrome 3	Growth delay, Glycosuria, Short stature, Bowing of the legs	OMIM:615605
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Renal hypoplasia, Short foot, Short palm, Clinod...	ORPHA:264200
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Growth delay, Everted lower lip vermilion, Hypodontia, ...	ORPHA:782
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Short ph...	ORPHA:99646
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered...	ORPHA:480880
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia,...	OMIM:268300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly	ORPHA:60040
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Mitral valve prolapse, Cubitus valgus, Ureteral triplicat...	OMIM:104350
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ...	OMIM:112250
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Micrognathia, Horseshoe kidney, Abnorm...	ORPHA:96182
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Pes cavus, Preaxial polydactyly	ORPHA:163681
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Deep palmar crease, H...	ORPHA:1675
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Micrognathia, Intrahepatic c...	OMIM:607330
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Mandibular prognathia, Broad palm	OMIM:618505
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Dental malocclusion, Broad palm...	OMIM:227330
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Growth delay, Short stature, Rachitic rosary, Bowing of the legs	ORPHA:157215
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,...	ORPHA:110
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Micropenis, Absent palmar crease	OMIM:614230
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Thin vermilion border, High palate, Polydactyly, Retrognathia	OMIM:619869
Alagille Syndrome 1	Elevated hepatic transaminase, Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carci...	OMIM:118450
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur...	OMIM:259050
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Polyhydram...	OMIM:606170
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5...	OMIM:113620
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Talipes equinovarus, Ectopia cordis, Bladder exstrophy	OMIM:217100
Relapsing Polychondritis	Anteriorly placed anus, Atelectasis, Hepatitis, Recurrent aphthous stomatitis	ORPHA:728
Fraser Syndrome 3	Hypoplasia of penis, Micrognathia, Short toe, Cutaneous syndactyly, Ureteral agenesis	OMIM:617667
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti...	ORPHA:2729
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Hypophosphatemic Bone Disease	Short stature, Bowing of the legs	OMIM:146350
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Arachnodactyly, Proportionate short stature, Absent...	ORPHA:500150
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Abnormal metacarpa...	ORPHA:284160
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Abdominal mass	OMIM:615989
Charge Syndrome	Delayed eruption of teeth, Short stature, Talipes, Polyhydramnios, Cleft upper lip, Postnatal gro...	ORPHA:138
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Micrognathia, Preaxial hand polydactyly,...	ORPHA:261318
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy...	OMIM:107480
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ...	ORPHA:1896
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Prader-Willi Syndrome	Syndactyly, Carious teeth, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Micropen...	OMIM:176270
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Congenital hip dis...	ORPHA:404454
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Dysgerminoma	OMIM:123500
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly	ORPHA:2169
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias	ORPHA:66629
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the...	ORPHA:1556
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Anterior hypopituitarism, Abnormal rib morphology	ORPHA:280195
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly...	OMIM:620029
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop...	OMIM:305100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Aminoaciduria, Ketonuria	OMIM:614520
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,...	ORPHA:3044
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology, Cleft palate, Webbed neck	OMIM:118100
Arteriosclerosis, Severe Juvenile	Short stature, Hip dysplasia, Gastric ulcer, Delayed puberty, Short phalanx of finger	OMIM:208060
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Clinodacty...	ORPHA:457284
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly	OMIM:219730
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp...	ORPHA:95494
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Multicystic k...	ORPHA:2308
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag...	ORPHA:93941
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Clinodactyly of the 5th finger, Mic...	ORPHA:96123
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Short stature	ORPHA:2578
Thauvin-Robinet-Faivre Syndrome	Pes planus, Inguinal hernia, Bowing of the legs, Pedal edema, Macroglossia, Large hands, Thick ve...	OMIM:617107
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ventricular septal defect, Ectopic kidney, Short toe, Clinodactyly of the 5th ...	ORPHA:1519
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing...	ORPHA:1974
Craniofacial Microsomia 1	Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of thumb phalanx, C...	OMIM:164210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Vesicoureteral reflux, Renal cy...	OMIM:616975
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Broad hallux phalanx...	ORPHA:857
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac...	OMIM:181270
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Syndactyly, Scapular winging, Short metacarpal, Bicuspid aortic valve, Sin...	OMIM:150230
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Micrognathia...	OMIM:223370
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla...	ORPHA:1521
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Preaxial hand po...	ORPHA:2211
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Pericardia...	ORPHA:2136
Bloom Syndrome	Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodactyly of the 5th fing...	OMIM:210900
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema	ORPHA:97330
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:464
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Finger syndactyly, Genu varum	ORPHA:1969
Hartsfield Syndrome	Syndactyly, Hypospadias, Ectrodactyly, Micropenis, Hypoplasia of the frontal bone	OMIM:615465
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Death in infancy, Short stature, Congenital diaphragma...	ORPHA:991
Fontaine Progeroid Syndrome	Mandibular prognathia, Atrial septal defect, Syndactyly, Bicuspid aortic valve, Micrognathia, Abn...	OMIM:612289
Doors Syndrome	11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the ph...	ORPHA:79500
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Hypospadias, Micrognathia, Chordee, Micropenis, Urogenital sinus anomaly	OMIM:618820
Fraser Syndrome 2	Ureteral agenesis, Renal hypoplasia, Unilateral renal agenesis, Cutaneous syndactyly	OMIM:617666
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Ves...	ORPHA:261537
Coffin-Siris Syndrome 12	Hypospadias, Micrognathia, Hip subluxation, Short thumb, Slender finger, Horseshoe kidney, Cutane...	OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Ves...	ORPHA:261552
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Decreased response to growth hormone stimulation test, H...	OMIM:180500
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Ves...	ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Sandal gap, Ventricular septal defect, Long fingers, Cutaneous syndactyly,...	OMIM:620330
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val...	ORPHA:744
Microphthalmia, Syndromic 1	Syndactyly, Hydroureter, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping sho...	OMIM:309800
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplasia, Hypospadias...	ORPHA:2052

Histopathology

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

There is no histopathology data for Sc5d

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sc5d.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
UV light suppression of EAE (a mouse model of multiple sclerosis) is independent of vitamin D and its receptor.	Proceedings of the National Academy of Sciences of the United States of America (October 2019)	Sc5d^{tm1c(EUCOMM)Hmgu}	PMC6842631
Vitamin D3 Produced by Skin Exposure to UVR Inhibits Murine Basal Cell Carcinoma Carcinogenesis.	The Journal of investigative dermatology (July 2017)	Sc5d^{tm1c(EUCOMM)Hmgu}	28774592
Attenuation of UVR-induced vitamin D3 synthesis in a mouse model deleted for keratinocyte lathosterol 5-desaturase.	The Journal of steroid biochemistry and molecular biology (March 2017)	Sc5d^{tm1c(EUCOMM)Hmgu} Sc5d^{tm1a(EUCOMM)Hmgu}	28330720

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sc5d^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sc5d^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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