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Gene: Pitx1 MGI:107374

Gene Summary

Name:

paired-like homeodomain transcription factor 1

Synonyms:

Bft, P-OTX, Potx, Ptx1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.22×10^-08
abnormal joint morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.34×10^-13
polysyndactyly	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	5.63×10^-08
fused phalanges	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.08×10^-05
abnormal tibia morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.71×10^-16
preweaning lethality, complete penetrance	Pitx1^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal nail morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	8.67×10^-06
abnormal autopod morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.08×10^-05
vertebral transformation	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	7.17×10^-05
abnormal digit morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.39×10^-08
abnormal femur morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	6.01×10^-09

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Anti-nuclear antibody assay

Images

4 Images

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Eye Morphology

Images Slit Lamp

5 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Pitx1^{em1(IMPC)Wtsi}
HET, Female, WTSI

View all 65 images

Pitx1^{em1(IMPC)Wtsi}
foot digit 1, polydactyly, polysyndactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
polysyndactyly, polydactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
polydactyly, polysyndactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
hindlimb, polysyndactyly, polydactyly, HET, Male, WTSI

Pitx1^{em1(IMPC)Wtsi}
polydactyly, polysyndactyly, HET, Male, WTSI

View all 18 images

Pitx1^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Male, WTSI

Pitx1^{em1(IMPC)Wtsi}
abnormal placement of pupils, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Human diseases caused by Pitx1 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 Pitx1 (2 diseases)
Human diseases predicted to be associated with Pitx1 (2155 diseases)

The table below shows human diseases associated to Pitx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly		Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Brachydactyly-Elbow Wrist Dysplasia Syndrome		Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275

The table below shows human diseases predicted to be associated to Pitx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Upington Disease	Multiple enchondromatosis, Flattened femoral head, Broad femoral neck, Arthralgia of the hip	OMIM:191520
Upington Disease	Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o...	ORPHA:3408
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Metachondromatosis	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology	ORPHA:2499
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
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
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
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
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill...	OMIM:613805
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ...	OMIM:609325
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Dermochondrocorneal Dystrophy	Large hands, Corneal dystrophy, Abnormality of the hand	ORPHA:79149
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia...	OMIM:258860
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Cleft palate, Orofacial cleft, Ab...	ORPHA:1988
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me...	OMIM:609324
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Pes cavus, Flexion contracture, Proxim...	OMIM:619216
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl...	OMIM:613804
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ...	ORPHA:2058
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radi...	ORPHA:1388
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology...	ORPHA:1277
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h...	ORPHA:3320
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Metachondromatosis	Multiple enchondromatosis, Bowing of the long bones	OMIM:156250
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel...	OMIM:201170
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Rapadilino Syndrome	Joint dislocation, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft pa...	OMIM:266280
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac...	OMIM:614335
Winchester Syndrome	Arthropathy, Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Bro...	OMIM:277950
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ...	OMIM:606835
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon...	ORPHA:1146
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger sy...	OMIM:224690
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi...	OMIM:142669
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Hearing impairment, Micrognathia, Hypoplastic ilia, P...	ORPHA:85201
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph...	ORPHA:294975
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Brachydactyly, Type A2, With Microcephaly	Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop...	OMIM:211369
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin...	OMIM:156500
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Tetrasomy X	Abnormality of the dentition, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finge...	ORPHA:9
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Gombo Syndrome	Clinodactyly, Delayed puberty, Radial deviation of finger, Brachydactyly	OMIM:233270
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narr...	OMIM:618435
Nail-Patella Syndrome	Pes planus, Glenoid fossa hypoplasia, Cleft upper lip, Sensorineural hearing impairment, Patellar...	OMIM:161200
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Congenital Patella Dislocation	Aplasia/Hypoplasia of the quadriceps, Genu valgum, Knee flexion contracture, Patellar dislocation...	ORPHA:295036
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Scholte Syndrome	Acromicria, Small hand, Patellar hypoplasia, Short foot, Everted lower lip vermilion	OMIM:300977
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Patellar aplasia, Cleft palate,...	ORPHA:96061
Recombinant 8 Syndrome	Camptodactyly of finger, Hearing impairment, Cleft upper lip, Abnormality of the dentition, Micro...	ORPHA:96167
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper limb muscle weakness,...	ORPHA:178145
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali...	ORPHA:1326
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Scoliosis, Clinoda...	ORPHA:3268
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Downturned corners of mouth, High...	OMIM:265000
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Macrotia, Protruding ear, Patellar hypoplasia, Micrognathia	OMIM:251240
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph...	ORPHA:2756
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Pseudoachondroplasia	Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Abnormal form of the verte...	ORPHA:750
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin...	ORPHA:2554
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Micrognathia, Narrow mouth, Patellar aplasia, Slender long bone, Micro...	OMIM:613800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Pes planus, Spina...	OMIM:600175
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Distal lower limb amyotrophy, Lower limb muscle weakness, Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Aplasia/Hypoplasia of t...	OMIM:613803
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Aase-Smith Syndrome	Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of ...	ORPHA:916
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus...	ORPHA:2614
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond...	OMIM:256050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Tooth agenesis, I...	OMIM:600204
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Enchondromatosis, Multiple, Ollier Type	Abnormal long bone morphology, Multiple enchondromatosis	OMIM:166000
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Low...	OMIM:601357
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Bowen-Conradi Syndrome	Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Orofacial cleft, Cli...	ORPHA:1270
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Disorganization, Mouse, Homolog Of	Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl...	OMIM:223200
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation, Abnormality of the dentition	ORPHA:2380
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Posteriorly rotated ears, Patellar aplasia, Cleft palate, Hip dysp...	OMIM:616835
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing...	ORPHA:949
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Micrognathia, High palate, Short philtr...	ORPHA:217340
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Spastic Paraplegia 33, Autosomal Dominant	Ankle clonus, Lower limb muscle weakness, Talipes equinovarus	OMIM:610244
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic...	ORPHA:141152
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh...	ORPHA:2751
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ...	OMIM:158300
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Micrognathia, 2-3 toe syndactyly, Short 5th finger, Low-set ears, Clino...	OMIM:618608
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart...	OMIM:277170
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ...	ORPHA:163665
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar...	OMIM:183700
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis...	OMIM:256200
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Abnor...	ORPHA:166100
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Hip dysplasia, Talipes equinovarus	ORPHA:238578
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia	OMIM:211180
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Ventriculomegaly And Arthrogryposis	Hand clenching, Arthrogryposis multiplex congenita, Ulnar deviation of the wrist, Talipes equinov...	OMIM:619501
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Metatarsus adductus, Short toe...	ORPHA:3041
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of the patella	ORPHA:1149
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Thin vermilion border, Abnor...	ORPHA:2370
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Gingival overgrowth...	ORPHA:464288
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Accessory oral frenulum, Micrognathia, Preaxial hand polydactyly, Hypoplasia of th...	ORPHA:79113
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, High...	ORPHA:1927
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp...	ORPHA:1858
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Knee dislocation, Hip dysplasia, Hip dislocation, Hammertoe	ORPHA:370943
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Conductive hearing impai...	OMIM:156550
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Cleft palate, Genu valgum, Ulnar deviation of fi...	OMIM:222600
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Spondyloepiphyseal Dysplasia Congenita	Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology, Upper limb undergrow...	ORPHA:94068
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Stapes ankylosis, Intestinal malrotation, Ve...	OMIM:614701
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Fing...	OMIM:601492
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adducted t...	OMIM:614257
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sandal gap, Malar flattening, Long fingers, Patellar hypoplasia, Protruding...	ORPHA:261279
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu v...	ORPHA:221016
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Bra...	ORPHA:1919
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Li-Campeau Syndrome	Low-set ears, Patellar hypoplasia, Long philtrum	OMIM:619189
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Penoscrotal Transposition	Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia, Bilateral single transverse palma...	ORPHA:2842
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly...	ORPHA:166024
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3236
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Cryptorchidism, Thin vermilion border, Brachydactyly	ORPHA:3303
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Abnormal pinna morphology, Tented philtrum, Patellar aplasia, Patellar h...	ORPHA:495818
Achondroplasia	Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulna...	OMIM:100800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Abnormal hair morphology, Preaxial polydactyly, Scol...	ORPHA:64754
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow...	OMIM:225280
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Narrow palate, Brachydactyly	OMIM:617169
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Auriculoosteodysplasia	Hip dysplasia, Dislocated radial head	OMIM:109000
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Coxa valga	OMIM:271620
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Pseudoachondroplasia	Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente...	OMIM:177170
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Short metacarpal, Plantar hyperkeratosis, Abnormal dental enamel morph...	ORPHA:221008
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Dental crowding, Metaphyseal widening, Flared me...	OMIM:123000
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth to...	OMIM:601559
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adduct...	ORPHA:444051
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Postaxial p...	OMIM:617925
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Hyp...	ORPHA:63442
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Low-set ears	OMIM:616570
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Posteriorly rotated ears, Wormian bones, Decreased fibular diamete...	OMIM:616897
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Pes cavus, Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Tal...	OMIM:608340
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, High palate, Prenat...	OMIM:618393
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Solitary median maxillary ...	OMIM:193530
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing...	OMIM:608940
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic...	OMIM:614669
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft...	OMIM:620107
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb amyotrophy, Small hypothenar eminence, Upper limb muscle weakness, Small thenar...	OMIM:609311
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L...	OMIM:615314
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly...	OMIM:241800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, ...	ORPHA:2511
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Increased connective tissue, Macroglossia, Calf muscle hypertrophy, Musc...	OMIM:616827
Sprengel Deformity	Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature	ORPHA:3181
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe...	OMIM:190351
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Cryptorchidism, Cleft palate, High palate, C...	ORPHA:376
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Pes planus, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinod...	ORPHA:521308
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Abnormal...	ORPHA:1860
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Lower limb amyotrophy, Upper limb amyotrophy, Talipes equinovarus, Pes cavus, Foot dorsiflexor we...	OMIM:617087
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec...	OMIM:108721
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri...	OMIM:124480
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc...	OMIM:601957
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con...	OMIM:602080
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Pes planus, Micrognathia, Cleft lip, Sensorineural hearing impairment, ...	OMIM:301022
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Thick lower lip vermilion, Small hand, Abnormal femur morphology,...	ORPHA:969
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Talipes equinovarus	OMIM:615683
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly	OMIM:615982
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes equinovarus, Join...	OMIM:611067
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t...	ORPHA:1225
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod...	OMIM:184250
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature	OMIM:253310
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris coloboma, Brac...	OMIM:610023
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Intestinal malrotation, Limited interphalangeal movement, Ab...	OMIM:147750
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Micrognathia, Trismus, Narrow mouth, Whistling appearance, Elbow fl...	OMIM:277720
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Odontochondrodysplasia 1	Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Mi...	OMIM:184260
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Developmental Dysplasia Of The Hip 2	Hip dysplasia, Coxa valga	OMIM:615612
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5...	ORPHA:1777
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con...	OMIM:614188
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus	OMIM:613162
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Whistling appearance, Hearing abnormality, Pierr...	ORPHA:1150
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Micrognathia, Posterio...	OMIM:618529
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Dow...	OMIM:618779
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Abruzzo-Erickson Syndrome	Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar sy...	ORPHA:921
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Keipert Syndrome	Broad hallux, Exaggerated cupid's bow, Downturned corners of mouth, Broad distal phalanx of finge...	OMIM:301026
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Bilateral single transverse palmar creases, Micrognathia, High, narrow ...	ORPHA:444002
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy, Epiphyseal stippling	OMIM:614876
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Brachydactyly	OMIM:618879
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis...	OMIM:300337
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic girdle bone morphology, Me...	OMIM:144750
Arthrogryposis, Distal, Type 2E	Joint contracture of the hand, Distal arthrogryposis, Foot joint contracture, Talipes equinovarus	OMIM:121070
Acromelic Frontonasal Dysplasia	Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Wide mouth,...	ORPHA:1827
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc...	OMIM:305620
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Short foot, Cone-shaped epiphysis, Short long bone, Lon...	OMIM:102370
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Moebius Syndrome	Decreased testicular size, Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, ...	OMIM:157900
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G...	ORPHA:85198
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Rocker bottom foot, Micrognathia, Death in childhood, Thin vermilion border, Lo...	OMIM:618766
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Small hand, Wide mouth, Broad finger,...	OMIM:614684
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Spinal muscular atrophy, Achilles tendon contractu...	OMIM:615290
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Macroglossia, Short...	OMIM:617396
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Abnormal pelvic girdle bone morphology, Torus palatinus, Conductive hearing impa...	OMIM:607634
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ...	ORPHA:93346
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly	OMIM:132450
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace...	OMIM:617405
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc...	ORPHA:2463
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Areflexia of upper limbs, Intrinsic hand muscle atrophy, Upper limb...	ORPHA:90103
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Smal...	OMIM:300590
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Enamel h...	OMIM:612463
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Arthralgia...	ORPHA:314652
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the ilia...	OMIM:611497
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi...	OMIM:164900
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr...	OMIM:619143
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy...	OMIM:601356
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M...	ORPHA:1508
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Carious teeth, Clinodactyly of the 5th finger, Malar flattening, Retrogna...	ORPHA:1390
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Conductive hearing impairment, Short foot, Microtia, High palate, Joint contracture...	OMIM:248910
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi...	ORPHA:314795
Acromegaloid Facial Appearance Syndrome	Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion border, Short 5th metac...	OMIM:102150
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ...	ORPHA:2741
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Micrognathia, Fu...	ORPHA:1387
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Protruding ear, Macro...	ORPHA:2013
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Areflexia of lower limbs, Hip dysplasia, High palate, Talipes e...	OMIM:611890
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Cigarette-paper scars, Atrophic scars, Talipes equinovarus, Hernia	OMIM:130010
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Mic...	ORPHA:261120
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, O...	OMIM:165800
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus	OMIM:613710
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Bro...	OMIM:300602
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Pierre-Robin sequence...	OMIM:184840
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morp...	OMIM:607143
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cryptorchidis...	ORPHA:3409
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of...	ORPHA:710
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Micrognathia, High, narrow palate, Conductiv...	ORPHA:2780
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl...	OMIM:615065
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Sandal gap, High, narrow palate, Cryptorchidism, Abnormal finger m...	ORPHA:3051
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Internally rotated shoulders, Dental crowding, Ankle flexion contracture, Microg...	OMIM:617468
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge...	OMIM:618436
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the endocrine system, Short toe, Abnormal...	ORPHA:633
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ...	OMIM:614815
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Conductive hearing impairment, Uln...	OMIM:171480
Chondroectodermal Dysplasia With Night Blindness	Metaphyseal dysplasia, Abnormality of the knee, Epiphyseal dysplasia, Abnormal dental morphology,...	ORPHA:319195
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Lowe...	ORPHA:2063
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysi...	OMIM:607095
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno...	ORPHA:1597
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
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Ulnar deviation of finger, Protrud...	ORPHA:1147
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Micrognathia, Carious...	OMIM:613684
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Mucolipidosis Type Iii	Craniofacial hyperostosis, Hearing abnormality, Cleft palate, Abnormal hip bone morphology, Hypop...	ORPHA:577
Pentasomy X	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Short foot,...	ORPHA:11
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Primary Pulmonary Hypoplasia	Low-set ears, Micrognathia, Cleft palate, Patellar hypoplasia	ORPHA:2257
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus	ORPHA:85174
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Sandal gap, Micrognathia, Abnormal helix morphology, Abnormal ...	ORPHA:2022
Slc35A2-Cdg	Camptodactyly of finger, Craniosynostosis, Coxa valga, Metatarsus adductus, Sensorineural hearing...	ORPHA:356961
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Low-set, posteriorly rotated ears, Micrognathia, Acromicria, Small hand, Downturned corners of mo...	ORPHA:254525
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hypoplasti...	OMIM:606170
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, Micrognathia, Clinodactyl...	OMIM:613604
Wilson-Turner Syndrome	Thin upper lip vermilion, Pes planus, Uplifted earlobe, Micrognathia, Tapered finger, Malar promi...	ORPHA:3459
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl...	ORPHA:2619
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Thick lower lip vermilion, Microdontia of pr...	OMIM:234250
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Cholesteatoma	OMIM:614113
Van Bogaert-Hozay Syndrome	Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m...	OMIM:277150
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Macrotia, Short di...	OMIM:181180
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia...	ORPHA:94066
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic...	OMIM:114300
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes...	ORPHA:496689
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c...	ORPHA:485405
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly	OMIM:612626
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ...	ORPHA:250984
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Distal amyotrophy, Facial palsy	OMIM:601382
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Joint dislocation, Bowing of the long bones, Camptodactyly of ...	ORPHA:628
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar fla...	ORPHA:93946
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Joint contracture, Talipes, Hypoplasia of the musculature	OMIM:225790
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, High, narrow palate, Short th...	ORPHA:436003
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia...	ORPHA:2831
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Cleft palate, Genu valgum, Small pituitary gland, Decreased testicular size	OMIM:614880
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ...	OMIM:141400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Simple ear...	OMIM:602471
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Oligodontia,...	OMIM:618853
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequen...	OMIM:604841
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal...	OMIM:619638
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in...	ORPHA:88630
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ti...	OMIM:613848
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Spastic Paraplegia 55, Autosomal Recessive	Tibialis anterior muscle atrophy, Lower limb muscle weakness, Talipes equinovarus, Lower limb amy...	OMIM:615035
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands	OMIM:300263
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Small thenar eminence...	OMIM:211960
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes,...	ORPHA:502
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, ...	OMIM:618011
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar...	OMIM:619451
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal pelvic girdle bone...	ORPHA:2097
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Premature pubarche, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Gingi...	ORPHA:137834
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Prieto Syndrome	Inguinal hernia, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Patellar di...	OMIM:309610
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru...	ORPHA:1794
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co...	ORPHA:166272
Acromelic Frontonasal Dysostosis	Syndactyly, Hypopituitarism, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Preaxial foot...	OMIM:603671
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse...	OMIM:618961
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Cleft palate, W...	OMIM:614607
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda...	OMIM:617063
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal...	ORPHA:85166
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup...	OMIM:602483
Peripheral Dysostosis	Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han...	ORPHA:1795
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral cleft lip, Microgn...	OMIM:164745
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Celiac disease, Abnormality of t...	ORPHA:576283
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Adducted thumb, Hydrocele testis, Notched primary central inciso...	OMIM:620062
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ...	OMIM:606851
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Malar fl...	ORPHA:2145
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Narrow philtrum,...	ORPHA:163654
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Elevated circul...	ORPHA:439822
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Cryptorch...	OMIM:615547
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Abnormal earlobe morphology, Clef...	ORPHA:217017
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas...	OMIM:620369
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Downturned corners of mouth, Sh...	OMIM:601224
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:3082
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly	ORPHA:2150
Chung-Jansen Syndrome	Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion border, High palate, S...	OMIM:617991
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate...	OMIM:164220
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Adv...	OMIM:614613
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Micrognathia, Carious teeth, Talipes equinov...	ORPHA:3132
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Micrognathia, Cleft pala...	ORPHA:251019
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact...	ORPHA:1327
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
Central Core Disease	Pes planus, Multiple joint contractures, Congenital hip dislocation, Myopathy, Talipes equinovaru...	ORPHA:597
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
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Pes planus, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Small h...	OMIM:300354
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip...	ORPHA:2251
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con...	OMIM:254940
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel...	ORPHA:1133
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg...	ORPHA:3447
Giant Axonal Neuropathy	Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ...	ORPHA:643
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Type II diabetes mellitus, Anal atresia...	ORPHA:1436
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal ph...	OMIM:612938
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Absent Achilles reflex, Arthrogryposis-like...	OMIM:620011
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbo...	ORPHA:263463
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature	ORPHA:85323
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh...	OMIM:180870
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Short foot, High palate, Short philtrum, Recurrent otitis media, Clinod...	ORPHA:254531
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Downturned corners of mouth, Micr...	OMIM:615162
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o...	ORPHA:251056
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Microtia, Everted lower lip vermi...	ORPHA:357175
Aniridia And Absent Patella	Aplasia/Hypoplasia of the patella	OMIM:106220
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hypoplasia of the odontoid process...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal...	OMIM:210600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ...	OMIM:611588
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Micrognathia...	OMIM:215150
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ...	OMIM:617412
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the elbow, Thick lower lip vermilion...	ORPHA:2701
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hy...	OMIM:276820
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Hypoplasia o...	ORPHA:1295
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the...	ORPHA:2994
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly	ORPHA:2762
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Auriculoosteodysplasia	Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of th...	ORPHA:114
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Bardet-Biedl Syndrome 9	Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:615986
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Long philtrum, High palate, Talipes equ...	OMIM:616354
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Quadriceps muscle...	ORPHA:99948
Larsen-Like Syndrome	Joint dislocation, Dental malocclusion, Cleft palate, Talipes equinovarus, Radial deviation of th...	OMIM:608545
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Carious teeth, Central adrenal insuff...	OMIM:612079
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Cl...	OMIM:617808
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormal foot morpholog...	ORPHA:1657
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Nescav Syndrome	Flexion contracture, Talipes equinovarus	OMIM:614255
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cl...	ORPHA:1752
Congenital Disorder Of Glycosylation, Type Iig	Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Rhizomelia, Squared iliac...	OMIM:611209
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atrophy, Genu valgum, ...	ORPHA:3115
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Per...	OMIM:265800
Sprengel Deformity	Shoulder muscle hypoplasia, Neck muscle hypoplasia	OMIM:184400
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova...	OMIM:617194
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Cataract, Genu recurvatum, Abnormal cornea m...	ORPHA:2611
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodact...	ORPHA:251028
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Upper limb muscle weakness, Areflexia of lower limbs, Talipes equinovar...	OMIM:616155
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia...	ORPHA:93329
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Thin upper lip vermilion, Hypogonadotropic ...	ORPHA:353298
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thu...	OMIM:610758
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Exaggerated cupid's bow, Tapered finger, Micrognathia, Long fingers,...	OMIM:618659
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Postnatal growth retardation, Congenital knee dislocation, Bilateral talipes equinovarus, Hand cl...	ORPHA:319332
Charcot-Marie-Tooth Disease, Type 4B2	Split hand, Distal amyotrophy, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus, Foot dorsif...	OMIM:604563
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond...	OMIM:117650
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Short middle phalanx of finger, Ta...	ORPHA:93388
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Abnormality o...	ORPHA:94065
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ...	OMIM:619636
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra...	OMIM:194350
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Abnorma...	ORPHA:3003
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Bowing of the legs, Micrognat...	OMIM:613849
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ...	OMIM:617926
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto...	ORPHA:3121
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Long philtrum, Brachydactyly, Short palm	OMIM:618522
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena...	ORPHA:1798
W Syndrome	Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc...	ORPHA:2804
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Aganglionic megacolon, Type D brachydactyly	OMIM:306980
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla...	OMIM:614592
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Posteriorly rotated ears, Tapered finger, Cleft lip, Small hand, Cleft pa...	OMIM:618089
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
3Mc Syndrome 2	Torticollis, Diastasis recti, Limited elbow movement, Hypoplasia of the musculature, Partial abdo...	OMIM:265050
Charcot-Marie-Tooth Disease Type 4G	Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal amyotrophy, Dist...	ORPHA:99953
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A...	ORPHA:1027
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger,...	OMIM:612350
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den...	ORPHA:178303
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Low anterio...	OMIM:615761
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Dental malocclusion, Slender long bone, Short 5th fi...	OMIM:612921
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard pala...	OMIM:108300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Downturned corne...	ORPHA:93267
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, F...	OMIM:300232
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Deviation of the 2nd finger, Oro...	ORPHA:1305
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-shaped epiphy...	OMIM:190350
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ...	ORPHA:101097
Erythema Of Acral Regions	Talipes equinovarus	OMIM:227000
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Long ...	OMIM:612916
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Retrognathia, Brachydactyly	OMIM:618265
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M...	ORPHA:2557
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl...	OMIM:226960
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ...	ORPHA:798
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Tonne-Kalscheuer Syndrome	Decreased testicular size, Pes planus, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency...	OMIM:300978
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Cleft palate, Protruding ear, Tooth agenesis, Abnormal hip bone morphology, Abnorma...	ORPHA:1166
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Congenital Myopathy 24	Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b...	OMIM:617336
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Malar flattening, Open mouth	OMIM:620021
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal wideni...	OMIM:614376
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucou...	ORPHA:2189
Aniridia-Absent Patella Syndrome	Aplasia/Hypoplasia of the patella	ORPHA:1069
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th...	ORPHA:77258
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac...	OMIM:619981
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Microtia, Duodenal atresia	OMIM:617798
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Everted upper lip vermilion, Abnormality of the dentition, Abn...	OMIM:182290
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Abnormal dental enamel...	ORPHA:2909
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El...	ORPHA:79445
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp...	OMIM:618761
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidis...	OMIM:103580
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Spina bifida occulta, Gener...	ORPHA:1514
Lambert Syndrome	Inguinal hernia, Talipes equinovarus	OMIM:245550
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor...	OMIM:222765
Specific Granule Deficiency 2	Death in infancy, Brachydactyly, Sandal gap, Conical tooth, Death in childhood, Tooth malposition...	OMIM:617475
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Talipes equinovarus	ORPHA:85288
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg...	OMIM:607131
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Scapular winging, Pes planus, Single transverse palmar crea...	OMIM:618870
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu...	OMIM:604757
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short foot, Small hand, Talipes equinovarus, Hip dislocation	OMIM:300434
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Precocious...	OMIM:620073
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Absent palmar crease, Flat...	ORPHA:157965
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,...	OMIM:603543
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Roifman Syndrome	Hip contracture, Short metacarpal, Thin upper lip vermilion, Single transverse palmar crease, Sho...	OMIM:616651
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Hypoplasia of the musculature, Ankle flexion contrac...	ORPHA:2020
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p...	OMIM:619941
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mouth, Lobulated tongue, Shor...	OMIM:613443
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Joint contracture, Rocker bottom foot	OMIM:618266
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology...	OMIM:618580
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Ulnar deviation of finge...	ORPHA:1101
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted te...	ORPHA:2645
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Cleft pala...	OMIM:300882
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral t...	ORPHA:2958
Larsen Syndrome	Finger syndactyly, Short nail, Large joint dislocations, Craniosynostosis, Accessory carpal bones...	ORPHA:503
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormality of jaw muscles, Facial paralysis, Abnormal finger morphology, Bilateral talipes equin...	ORPHA:2560
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Hip dislocation, Talipes equinovarus	ORPHA:250994
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchidism, Thi...	OMIM:618950
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equino...	OMIM:609128
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor...	ORPHA:293725
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Split hand, Talipes equinovarus	OMIM:607831
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Trap...	OMIM:307800
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C...	ORPHA:2754
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, ...	OMIM:210710
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Micrognathia, Avascular necrosis of the capital femoral epiphysis, Coxa valga,...	ORPHA:1899
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Intestinal malrotation, Short t...	ORPHA:401935
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl...	OMIM:620183
Tarp Syndrome	Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of ...	OMIM:311900
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami	OMIM:141300
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f...	ORPHA:2872
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Hyperparathyroidism, Transient Neonatal	Wide cranial sutures, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs...	OMIM:618188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Cleft palate, Flat ac...	ORPHA:163649
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna,...	ORPHA:2167
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ...	OMIM:613823
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi...	OMIM:613390
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Calcaneovalgus...	OMIM:616266
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Microtia, Short 5th finger, Atre...	OMIM:239800
Buratti-Harel Syndrome	Broad hallux, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate...	OMIM:619314
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Post...	ORPHA:2759
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Palmoplantar keratoderma	ORPHA:2206
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Deep philtrum, Metaphys...	OMIM:255800
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Abnormal palate morp...	ORPHA:93262
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum...	ORPHA:96184
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Posteriorly rotated ears, Miscarriage, Micromelia, Bowing of the legs, Microgna...	ORPHA:1865
Temtamy Syndrome	Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T...	OMIM:218340
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca...	OMIM:221800
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Sti...	OMIM:236500
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Elevated circulating thyroid-stimulating hormone con...	OMIM:612462
Osteogenesis Imperfecta, Type I	Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian bones, Dentinoge...	OMIM:166200
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, Trismus, Elbow...	OMIM:272430
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Hearing impairmen...	ORPHA:2484
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh...	OMIM:614524
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e...	ORPHA:1784
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Decreased testicular size, Micrognathia, Hypopla...	OMIM:300534
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, S...	OMIM:602152
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Periodontitis, Brachydactyly	OMIM:266265
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Malar flatteni...	ORPHA:2180
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Posteriorly rotated ears, Micrognathia, Wide anterior font...	OMIM:614541
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Brach...	OMIM:603233
Alg6-Cdg	Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu...	ORPHA:79320
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypoplasti...	OMIM:614813
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Pes planus, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Myhre Syndrome	Short palm, Mandibular prognathia, Craniofacial hyperostosis, Hearing impairment, Hypoplasia of t...	ORPHA:2588
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of...	ORPHA:239
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Umbilical hernia, Short foot, Oligodactyly	OMIM:619758
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H...	OMIM:619762
Osteogenesis Imperfecta, Type V	Pes planus, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Worm...	OMIM:610967
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger	OMIM:242500
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Bruck Syndrome 2	Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Platyspondyly, Talipes equin...	OMIM:609220
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, High palate, Low-set ears, L...	OMIM:616549
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneou...	OMIM:148820
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major muscle, Pierre-Ro...	ORPHA:1358
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Metaphyseal dysplasia, Proximal placement of thumb, Flexion contr...	OMIM:613330
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormal epiphysis morphology, Abno...	ORPHA:970
Temple Syndrome	Posteriorly rotated ears, Micrognathia, Small hand, Cleft palate, Short foot, High palate, Short ...	OMIM:616222
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin...	ORPHA:2001
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesom...	OMIM:612813
Cone-Rod Dystrophy 16	Cataract, Postaxial polydactyly	OMIM:614500
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Metaphyseal widening, Delayed epiphyseal ossificat...	ORPHA:93352
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnormal ...	ORPHA:3219
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 2-3 toe...	OMIM:613573
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Alg9-Cdg	Omphalocele, Torticollis, Ulnar deviation of the hand, Lipodystrophy, Rhizomelia, Hypoplasia of t...	ORPHA:79328
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pi...	ORPHA:377
Kid Syndrome	Lip fissure, Angular cheilitis, Abnormality of the dentition, Equinus calcaneus, Coxa valga, Prel...	ORPHA:477
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydacty...	OMIM:612651
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit...	OMIM:121050
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, G...	ORPHA:3473
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Hand polydactyly, ...	ORPHA:2377
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal...	ORPHA:93328
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Woolly Hair Nevus	Precocious puberty, Widely-spaced incisors, Brachydactyly	ORPHA:79414
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Con...	OMIM:616716
Nephronophthisis 15	Polydactyly	OMIM:614845
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Scoliosis	OMIM:619091
Three M Syndrome 3	Slender long bone, Hip dysplasia, Thick vermilion border, Long philtrum, Clinodactyly of the 5th ...	OMIM:614205
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, High palate, Talipes equinovarus, Short p...	ORPHA:3306
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Ge...	OMIM:615777
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Brachydactyly	OMIM:610498
Burn-Mckeown Syndrome	Mandibular prognathia, Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Protrudin...	OMIM:608572
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Aplasia/H...	ORPHA:1702
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Carious teeth, Downturned corners of mo...	ORPHA:1110
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Silver-Russell Syndrome	Sandal gap, Dental crowding, Micrognathia, Precocious puberty, Cryptorchidism, Lower limb asymmet...	ORPHA:813
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Bilateral talipes equinovarus	OMIM:616486
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Ileus, High palate, Short philtrum, Long philtrum, Retrognathi...	OMIM:620156
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C...	ORPHA:1770
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert...	OMIM:619736
Satoyoshi Syndrome	Pes planus, Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalange...	OMIM:600705
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Polycystic ovaries, ...	ORPHA:3085
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Tented upper lip vermilion, Overlapping toe, Craniosyn...	OMIM:616723
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the fibula, Protru...	ORPHA:2256
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ...	OMIM:309350
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Pancreatic cysts, Cleft palate, Clubbing ...	ORPHA:1318
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,...	OMIM:224300
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li...	OMIM:615849
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bowing, Anotia, Micr...	OMIM:616462
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislocation, High ...	ORPHA:536532
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Thoracic hemivertebrae,...	ORPHA:1445
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Enlarged interphalangeal joints, Abnormality of the knee, Narrow small joints...	ORPHA:1159
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Al-Raqad Syndrome	Narrow mouth, Thin upper lip vermilion, Sandal gap, Brachydactyly	OMIM:616459
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the...	ORPHA:313855
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia	ORPHA:401815
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Dental malo...	OMIM:618727
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foo...	ORPHA:85184
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Palmoplantar keratoderma, ...	ORPHA:2824
Charcot-Marie-Tooth Disease, Type 4C	Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T...	OMIM:601596
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Red hair, Keratoglobus, Abnormal cornea morphology, Decr...	OMIM:229200
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen...	OMIM:617930
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari...	OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Sandal gap, Single transverse palmar crease, Dental c...	OMIM:617061
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too...	ORPHA:1787
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Carious teeth, Cryptorchidi...	ORPHA:96097
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Joubert Syndrome 10	Hirsutism, Postaxial polydactyly	OMIM:300804
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis,...	ORPHA:2671
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Rhizomelia, Abnormality of the dentition, Flat capital femo...	OMIM:271510
Septooptic Dysplasia	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly...	OMIM:182230
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Rin2 Syndrome	Irregular dentition, Pes planus, Hypergonadotropic hypogonadism, Cryptorchidism, Gingival overgro...	ORPHA:217335
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia...	ORPHA:531151
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Slender long ...	ORPHA:561
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb...	ORPHA:562528
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Meta...	OMIM:263210
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Dominant Beta-Thalassemia	Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum	ORPHA:231226
Masa Syndrome	Pes cavus, Talipes equinovarus, Adducted thumb	OMIM:303350
Trisomy 8P	Short fourth metatarsal, Conductive hearing impairment, Clinodactyly of the 5th finger, Bifid uvu...	ORPHA:264450
Rudiger Syndrome	Death in infancy, Single transverse palmar crease, Ovarian cyst, High axial triradius, Short digit	OMIM:268650
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Cleft palate	OMIM:302905
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Abnormal foot morphology, C...	OMIM:200610
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Persistence of primary teeth...	OMIM:610253
Pontocerebellar Hypoplasia, Type 1B	Abnormal foot morphology, Tongue atrophy, Hip dislocation, Tongue fasciculations	OMIM:614678
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin...	OMIM:135900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro...	ORPHA:96182
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou...	OMIM:212780
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M...	OMIM:263750
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis	OMIM:618356
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Abnormality of the...	ORPHA:3035
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Palmoplantar keratoderma	OMIM:613576
Erythrokeratodermia Variabilis	Diabetes mellitus, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology...	ORPHA:317
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Short long bone, Oligodon...	OMIM:619184
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,...	OMIM:269860
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, ...	OMIM:619194
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia	OMIM:606744
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Loeys-Dietz Syndrome 5	Pes planus, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltrat...	OMIM:615582
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, Do...	ORPHA:2075
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Slender long bone, Worm...	OMIM:259420
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert...	ORPHA:93315
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Neonat...	OMIM:259775
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi...	OMIM:257850
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,...	ORPHA:870
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Orof...	OMIM:615630
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Distal Deletion 10P	Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbow, Cleft palate, Poly...	ORPHA:1580
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox...	OMIM:618150
Distal Monosomy 7Q36	Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Symphalangism affecting the ph...	ORPHA:1636
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot...	ORPHA:236
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal pelvi...	ORPHA:3079
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Short long bone, Ta...	OMIM:224410
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula...	ORPHA:95699
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl...	OMIM:259600
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Cleft palate, Halberd-shaped pelvis, Clinodactyly of the 5th...	ORPHA:2635
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Retrognathia	OMIM:615524
Harrod Syndrome	Arachnodactyly, Dental malocclusion, Protruding ear, Abnormal shoulder morphology, Abnormal pelvi...	ORPHA:2115
Spastic Paraplegia 47, Autosomal Recessive	Pes planus, Genu recurvatum, Flexion contracture, Talipes equinovarus, Acetabular dysplasia	OMIM:614066
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Nail dystrophy	OMIM:226700
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Toe syndactyly, Tented upper lip vermilion, Delayed eruption o...	ORPHA:819
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clin...	OMIM:619721
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Osteo...	OMIM:259450
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Polydactyly, Upper li...	ORPHA:231140
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp...	ORPHA:392
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ...	ORPHA:1488
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho...	ORPHA:3194
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin...	ORPHA:50945
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Micrognat...	OMIM:200980
Alopecia-Intellectual Disability Syndrome	Split hand, Hypergonadotropic hypogonadism, Brachydactyly	ORPHA:2850
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the endocrine system, Abnormal pelvis...	ORPHA:166119
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Annular p...	OMIM:618162
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Short palm	ORPHA:85172
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Gorham-Stout Disease	Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteolysis involving...	ORPHA:73
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb...	ORPHA:404440
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynost...	ORPHA:83
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin...	OMIM:113650
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Posteriorly rotated ears, Protruding tongue, Prominent crus of...	OMIM:617804
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cleft lip, Cryptorchidism, Cleft palate, Camptodactyly, Clinodactyly of the 5th fin...	OMIM:619123
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Abnormal antihelix morphology, L...	ORPHA:1438
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly, Abnormal vertebral morphology	ORPHA:261272
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, C...	OMIM:618198
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Hypoplasia of the ...	OMIM:272460
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Abnormal epiphysis morphology, Long phil...	ORPHA:90653
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:264700
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Clinodactyly, Decreased testicular size	OMIM:614838
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia	OMIM:602196
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, High palate, Clinodactyly of the 5th finger, Cubitus valgus, Retrognathia, Bra...	OMIM:620237
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Jansen-De Vries Syndrome	Thin upper lip vermilion, Small hand, Short foot, Wide mouth, Brachydactyly	OMIM:617450
3C Syndrome	Finger syndactyly, Death in infancy, Intestinal malrotation, Adrenal hypoplasia, Micrognathia, Mi...	ORPHA:7
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, 2-3 toe syndactyly, Narrow p...	ORPHA:313892
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Cryptorchidis...	OMIM:612513
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia...	ORPHA:75389
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnorma...	ORPHA:2769
Vitamin K Antagonist Embryofetopathy	Macroglossia, Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger	ORPHA:1914
Beta-Thalassemia Major	Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum	ORPHA:231214
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segm...	ORPHA:1323
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Toe syndactyly, Single transverse palmar crease, Proximal placement of ...	OMIM:610759
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Wormian bones, Femoral bowing present at birth, straightening with time, Dentinogen...	OMIM:166220
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Short Syndrome	Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo...	ORPHA:3163
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Narrow pelvis bone, Short ribs, Hypoplastic pelvis, Hypoplastic iliac wing	OMIM:187760
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab...	ORPHA:3130
Xylt1-Cdg	Joint dislocation, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thic...	ORPHA:370930
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Pes planus, Macrodontia, Posteriorly rotated ears, Proximal placement of t...	OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi...	ORPHA:177907
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han...	OMIM:612863
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cl...	OMIM:616894
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Selective tooth agenesis, Micrognathia,...	ORPHA:2959
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Micrognathia, Malar prominence, Fused cervical vertebrae, Low-set ear...	ORPHA:2522
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus, Hypomimic face	OMIM:260300
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus, Limb hypertonia	ORPHA:401795
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage	ORPHA:3305
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Inguinal hernia, Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Keutel Syndrome	Recurrent sinusitis, Calcification of cartilage, Recurrent otitis media, Short distal phalanx of ...	ORPHA:85202
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Patellar dislocat...	OMIM:603736
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Small earlobe, Genu varum, Long toe, Large hands, Low-...	OMIM:264090
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly	OMIM:614261
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d...	ORPHA:1234
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Single transverse palmar crease, C...	OMIM:617425
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity	OMIM:162370
Occipital Horn Syndrome	High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w...	ORPHA:198
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os...	OMIM:618395
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov...	OMIM:616738
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Pes planus, Dental crowding, Micrognathia, Tapered finger, High, narrow...	OMIM:619312
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Hyporeflexia of lower limbs, Peroneal muscle w...	ORPHA:90658
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion...	OMIM:614800
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Abnormal enchondral ossification, Short foot, Talipes equinovarus, Um...	ORPHA:93298
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Pancreatic fibrosis, Pancreatic cysts, Early ossificati...	OMIM:208500
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Micrognathia, High palate, Broad thumb, Clinodactyly, Macrotia, Long hallux, Hyper...	OMIM:620194
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Malar flattening, Short pha...	OMIM:600430
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Cle...	OMIM:618469
Ane Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Ulnar d...	ORPHA:157954
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long...	ORPHA:169186
Pontocerebellar Hypoplasia, Type 1A	Spinal muscular atrophy, Abnormal foot morphology, Congenital contracture, Distal amyotrophy, Tal...	OMIM:607596
Larsen Syndrome	Vertebral fusion, Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow dislocation, Cryptor...	OMIM:150250
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, H...	ORPHA:2457
C Syndrome	Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Accessory oral frenulum, Micromelia, ...	OMIM:211750
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Downturned corners of mouth, Slender long ...	ORPHA:2774
Lethal Congenital Contracture Syndrome 10	Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Talipes ...	OMIM:617022
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Slender long bone, Ankyloglossia, Brachydactyly	OMIM:602361
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Single transver...	OMIM:618291
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu...	OMIM:253250
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hyperextensibi...	OMIM:601812
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:604292
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Cle...	OMIM:217980
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Scoliosis	OMIM:615284
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Submucous cleft hard palate, ...	OMIM:619680
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hi...	ORPHA:96148
Native American Myopathy	Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala...	ORPHA:168572
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Precocious puberty, Coxa vara, Narrow pelvis bone, Tooth agenesis, Abnormal epiphysis...	ORPHA:2637
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr...	OMIM:254090
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft pal...	OMIM:617746
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Müllerian Aplasia And Hyperandrogenism	Cleft palate, Short philtrum, Increased serum testosterone level, Cubitus valgus, Abnormality of ...	ORPHA:247768
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Scapular winging, Congenital hip dislocation, Inguinal hernia, Hypoplasia...	OMIM:278250
Short Stature-Micrognathia Syndrome	Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, Cryptorchidism, 2...	OMIM:617164
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Abnormal earlobe m...	ORPHA:808
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Talipes equinovarus	OMIM:616756
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Iris coloboma	ORPHA:2921
Joubert Syndrome 23	Polydactyly	OMIM:616490
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cryptorchi...	ORPHA:457193
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e...	OMIM:143095
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Glass Syndrome	Dental crowding, Anterior tibial bowing, Arachnodactyly, Conical tooth, Micrognathia, Posteriorly...	OMIM:612313
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Pes planus, Micrognathia, Cryptorchidism, Hypoplast...	OMIM:300712
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie...	OMIM:215140
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Radio-Renal Syndrome	Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow...	ORPHA:3015
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Wormian bones, Dental crowding, Posteriorly r...	ORPHA:2789
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ...	ORPHA:93932
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Talipes equinovarus, Distal lower limb muscle weakness, Generalized limb muscle atrophy	ORPHA:466794
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa...	OMIM:619479
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Micrognathia, Macr...	OMIM:619775
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the elbow, Slender long bone, Abn...	ORPHA:1486
Walker-Warburg Syndrome	Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature...	ORPHA:899
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed ...	OMIM:619980
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint...	OMIM:618914
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly	ORPHA:3004
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ...	ORPHA:2636
Orthostatic Hypotension 1	High palate, Reduced circulating prolactin concentration, Brachydactyly	OMIM:223360
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased muscle mass, Intrinsic hand muscle atrophy, Knee flexion contracture, Talipes equinovar...	OMIM:615490
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior f...	OMIM:619135
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin sequence, Hip dislocatio...	OMIM:183900
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Pe...	OMIM:275900
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79444
Desmosterolosis	Low-set, posteriorly rotated ears, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus a...	ORPHA:35107
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Anotia, H...	OMIM:613717
Osteogenesis Imperfecta, Type Xiv	Scoliosis, Femoral bowing	OMIM:615066
Tarp Syndrome	Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ...	ORPHA:2886
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segme...	ORPHA:1005
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis, Sparse...	OMIM:302960
Perrault Syndrome 1	Pes cavus, Talipes equinovarus, Osteoporosis	OMIM:233400
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Retrognathia, Bifi...	OMIM:612561
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Postnatal growth retardation, Talipes equinovarus, Tapered finger	OMIM:617219
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Pes planus, Death in infancy, Coxa valga, Microg...	OMIM:619297
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor...	ORPHA:2655
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Facial hypotonia, Arachnodactyly, Atrophic scars, Bilateral talipes equinovarus,...	OMIM:615539
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Broad distal phalanx of finger, Long philtrum, Hypothyroidism, Broad th...	OMIM:617763
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplas...	ORPHA:1512
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Pyloric...	ORPHA:1001
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the wrists, Dela...	OMIM:600081
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Sagittal craniosynostosis, Thick lower lip vermilion, Downturned corner...	OMIM:618027
Trisomy 12P	Supernumerary nipple, Micrognathia, Cleft palate, Downturned corners of mouth, Large hands, Evert...	ORPHA:1699
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Cleft lip, Partial ...	OMIM:618348
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro...	ORPHA:235
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Sensorineural hearing impairment, Orofacial cleft, Polydactyly	ORPHA:17
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited elbow movement, ...	OMIM:300280
Macs Syndrome	Irregular dentition, Pes planus, Hypergonadotropic hypogonadism, Single transverse palmar crease,...	OMIM:613075
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal cupping, Metaphyseal chondro...	OMIM:156400
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Cryptorchidism, Cleft...	OMIM:601353
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly	ORPHA:85279
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly	OMIM:616589
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognath...	OMIM:220210
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Deep philtrum, Macroglossia, Long philtrum, High palate, Talipes equinovarus, Th...	ORPHA:397709
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Aase-Smith Syndrome I	Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Short dis...	ORPHA:86822
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Esophageal atresia, Deep ph...	OMIM:610536
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Chitayat Syndrome	Hallux valgus, Thick vermilion border, Brachydactyly	OMIM:617180
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A...	OMIM:618021
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Absent cupid's bow, Abnormality o...	ORPHA:513456
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc...	OMIM:304120
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi...	OMIM:231070
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Joint contracture, Talipes equinovarus	OMIM:617481
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat...	OMIM:618874
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormal metacar...	ORPHA:3224
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala...	ORPHA:221120
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo...	ORPHA:139471
Hartsfield Syndrome	Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius	ORPHA:2117
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia	OMIM:612776
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes planus, Facial palsy, Distal amyotrophy, Areflexia of lower limbs, Talipes equinovarus, Hypor...	OMIM:256850
Joubert Syndrome 7	Postaxial hand polydactyly, Scoliosis, Postaxial polydactyly, Genu valgum	OMIM:611560
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Freeman-Sheldon Syndrome	Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Hernia, Absent palmar cr...	ORPHA:2053
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Abnormal diaphysis morph...	ORPHA:2021
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Micrognathia, Cryptorchidism...	ORPHA:2083
Trisomy 20P	Finger syndactyly, Macroorchidism, Camptodactyly of finger, Talipes, Micrognathia, Abnormality of...	ORPHA:261318
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact...	OMIM:101400
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty...	ORPHA:397590
Kabuki Syndrome 2	Natal tooth, Hearing impairment, Micrognathia, Lower lip pit, Cupped ear, Dental malocclusion, Hi...	OMIM:300867
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Chromosome 6Q11-Q14 Deletion Syndrome	Pes planus, Inguinal hernia, Single transverse palmar crease, Talipes equinovarus, Umbilical hern...	OMIM:613544
Agnathia-Otocephaly Complex	Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Low-set ears, Narrow mouth, ...	OMIM:202650
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing...	OMIM:614856
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate...	OMIM:271640
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death	OMIM:245650
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion,...	ORPHA:324410
Bruck Syndrome	Arthrogryposis multiplex congenita, Bowing of the long bones, Osteoporosis, Talipes equinovarus	ORPHA:2771
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Femoral bowing, Long eyelashes, Biconcave vertebral bodies, Wormian bon...	OMIM:617952
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Talipes, Delayed cranial suture closure, Micrognathia,...	OMIM:210730
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Pes planus, Down-sloping shoulders, Abnormal de...	ORPHA:96263
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Ect...	OMIM:147950
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Diaphanospondylodysostosis	Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Cleft palate, Missing ribs	ORPHA:66637
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Symphalangism affecting the phalanges of the hand, Wide mouth, Long philtrum, Short distal phalan...	ORPHA:1292
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Talipes equinovarus	OMIM:616719
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios...	OMIM:614099
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Otosclerosis, Micrognathia, Abnormality of the wrist, Upper limb underg...	ORPHA:529962
Wiedemann-Rautenstrauch Syndrome	Abnormality of the ear, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum...	ORPHA:3455
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Toluene Embryopathy	Micrognathia, Tapered finger, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ...	ORPHA:1920
Distal Deletion 6P	Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short f...	ORPHA:96125
Dystonia, Dopa-Responsive	Torticollis, Pes cavus, Talipes equinovarus	OMIM:128230
Joubert Syndrome 33	Syndactyly	OMIM:617767
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia,...	OMIM:616362
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Fractures of the long bones, Abnormal pelvic girdle bone morphology, Mandibul...	OMIM:166600
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Cataract, Broad hallux phalanx, Toe syndactyly, Short ...	ORPHA:959
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd...	ORPHA:2473
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Gingival bleeding...	ORPHA:169805
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon...	OMIM:269500
Joubert Syndrome 16	Polydactyly	OMIM:614465
Tibial Hemimelia	Absent tibia	OMIM:275220
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,...	OMIM:608257
Hamamy Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered finger, ...	OMIM:611174
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Hitchhiker thumb, Micrognathia, Prominent antitragus, 2-3 fing...	ORPHA:2437
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, High palate, Small pituitary gland, Del...	OMIM:612702
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent ...	OMIM:108145
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi...	ORPHA:1974
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Joint dislocation, Pes planus, Sandal gap, Recurrent shoulder dislocation, Dental ...	ORPHA:230851
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Momo Syndrome	Delayed eruption of teeth, Abnormality of the thyroid gland, Thick lower lip vermilion, Dental ma...	ORPHA:2563
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Uplifted earlobe, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, ...	OMIM:616449
Cystathioninuria	Talipes equinovarus	ORPHA:212
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Arachnodactyly, Rhizo...	ORPHA:3379
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hy...	OMIM:151050
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus	OMIM:209770
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Distal amyotrophy...	OMIM:604320
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s...	OMIM:617201
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ...	OMIM:209885
Intellectual Developmental Disorder, Autosomal Recessive 61	Decreased muscle mass, Tapered finger, Long fingers, Talipes equinovarus, Prominent fingertip pad...	OMIM:617773
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l...	ORPHA:289157
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ...	ORPHA:1765
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Talipe...	OMIM:615789
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos...	OMIM:616580
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, P...	OMIM:301091
Gapo Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Abnormal pelvic girdle bone morph...	ORPHA:2067
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Mandibular prognath...	ORPHA:1299
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Abnormality of the e...	ORPHA:166035
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Talipes equinovarus	OMIM:616171
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo...	OMIM:615108
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the denti...	ORPHA:93160
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Pes cavus, Dental crowding, Broad hallux, Sandal gap, Hearing impairmen...	OMIM:616078
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Bile duct proliferation, Po...	OMIM:607361
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ...	OMIM:169400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip	ORPHA:2476
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr...	ORPHA:1968
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Dow...	OMIM:109400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly	OMIM:602501
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Martsolf Syndrome 1	Short metacarpal, Cataract, Thoracic scoliosis, Lumbar hyperlordosis, Metatarsus adductus, Slende...	OMIM:212720
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Broad hallux, Widow's peak, Hand polydactyly, Broad thumb	OMIM:239710
Congenital Disorder Of Glycosylation, Type Iih	Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa valga, Clin...	OMIM:611182
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Glossoptosis, Advance...	ORPHA:828
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac...	OMIM:308050
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Marshall-Smith Syndrome	Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto...	OMIM:602535
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont...	OMIM:218330
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Increased serum ...	ORPHA:96181
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Scoliosis, Femoral bowing	OMIM:126550
Meckel Syndrome, Type 10	Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po...	OMIM:614175
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Tris...	ORPHA:3206
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate...	ORPHA:314621
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim...	ORPHA:261323
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Brachydactyly, Hypothyroidism, Short distal phalanx of finger	ORPHA:1563
Hartnup Disorder	Glossitis	OMIM:234500
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Tracheoesophageal fistula, Gingival overgrow...	ORPHA:1834
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, High palate, Pes valgus, Brachydactyly	OMIM:619995
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Pes planus, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Finger ...	OMIM:244200
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Diabetes mellitus, Dental crowding, Aganglionic megacolon,...	OMIM:209900
Lateral Meningocele Syndrome	Vertebral fusion, Wormian bones, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnorma...	OMIM:130720
Cerebrocostomandibular Syndrome	Death in infancy, Micrognathia, Conductive hearing impairment, Cleft palate, Glossoptosis, Atresi...	ORPHA:1393
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Genu recurvatum, Micrognathia, Bifid uvula, Dislocated radial head, Long toe, ...	OMIM:130070
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Rapp-Hodgkin Syndrome	Syndactyly, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Joubert Syndrome 27	Polydactyly	OMIM:617120
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Infantile Systemic Hyalinosis	Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Gingival overgrow...	ORPHA:2176
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Hyperthyroidi...	ORPHA:249
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Increased carrying angle, Brachydactyly	OMIM:247410
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Short neck	OMIM:613885
Benign Schwannoma	Intestinal polyposis, Abnormal fibula morphology, Abnormality of the adrenal glands, Abnormal par...	ORPHA:252164
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment...	ORPHA:861
Facioscapulohumeral Muscular Dystrophy 1	Calf muscle hypertrophy, Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy	OMIM:158900
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Microhydranencephaly	Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy	OMIM:605013
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly	OMIM:264180
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, ...	ORPHA:3027
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis...	ORPHA:1300
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabu...	OMIM:610442
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan...	OMIM:225410
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Spa...	OMIM:250250
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Mehmo Syndrome	Talipes equinovarus, Tapered finger	ORPHA:85282
Multiple Pterygium Syndrome, X-Linked	Amyoplasia, Flexion contracture, Short finger	OMIM:312150
Cole-Carpenter Syndrome	Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Abnormal dental enamel ...	ORPHA:2050
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Hypoplasia of the iris, Trapezoidal vertebral body, Short phalanx o...	OMIM:600092
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Lissencephaly 8	Skeletal muscle atrophy, Talipes equinovarus	OMIM:617255
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Tapered finger, Cli...	OMIM:301040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short umbilical cord, Tapered finger	OMIM:618367
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Flexion contracture, Talipes equinovarus, Arthrogryposis multiplex congenita, Clino...	OMIM:601110
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of h...	OMIM:619122
Rabson-Mendenhall Syndrome	Mandibular prognathia, Increased pineal volume, Enlarged ovaries, Dental crowding, Abnormality of...	ORPHA:769
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ...	OMIM:609465
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo...	OMIM:615109
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79443
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Antecubital pterygium, Low-set ears, Bifid uvula	OMIM:616258
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang...	ORPHA:1692
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, ...	ORPHA:1328
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Decreased muscle mass, Widened atrophic scar, Wrist drop, Muscle fiber atrophy, Osteo...	ORPHA:1900
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Developmental And Epileptic Encephalopathy 91	Talipes equinovarus, Single transverse palmar crease	OMIM:617711
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, Cleft upper l...	OMIM:304110
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub...	OMIM:618971
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Talipes, Metatarsus adductus, R...	ORPHA:2461
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar deviation of the hand o...	OMIM:214100
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyl...	ORPHA:672
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Deep phi...	OMIM:618143
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Macrotia	ORPHA:1446
Frank-Ter Haar Syndrome	Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Simple ear, Wide ...	OMIM:249420
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Lower limb asymmetry, Scarring alopecia of scalp, Flexion contract...	ORPHA:35173
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow...	OMIM:207410
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip...	OMIM:118650
Sim1-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ...	ORPHA:398079
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Low-set, posteriorly rotated...	ORPHA:175
Microcephaly 13, Primary, Autosomal Recessive	Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Macrotia	OMIM:616051
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence...	ORPHA:955
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Short phalanx of...	OMIM:302350
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, S...	OMIM:610915
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia, Talipes equinovarus	OMIM:617662
Darier-White Disease	Palmar pits, Plantar pits, Enlargement of parotid gland	OMIM:124200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Bilateral ta...	OMIM:618142
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Pes planus, Arachnodactyly, Sandal gap, Flexion contracture, Upper limb muscle weakness, Talipes ...	OMIM:617146
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Ro...	OMIM:193700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Cleft palate, Brachydactyly	ORPHA:1642
Pontocerebellar Hypoplasia, Type 11	Pes planus, Skeletal muscle atrophy, Talipes equinovarus	OMIM:617695
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Thick vermilion...	OMIM:617809
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Microphthalmia, Syndromic 6	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High palate, Clinodactyly of t...	OMIM:607932
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ear, Glossoptosis, Clinodactyl...	ORPHA:2031
You-Hoover-Fong Syndrome	Cleft palate, Clinodactyly, Accessory oral frenulum, Brachydactyly	OMIM:616954
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate, L...	OMIM:616038
Multiple Pterygium Syndrome, Lethal Type	Amyoplasia, Flexion contracture, Short finger	OMIM:253290
Triploidy	Finger syndactyly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline cleft lip, C...	ORPHA:3376
Microtriplication 11Q24.1	Metatarsus adductus, Small hand, Genu valgum, Short foot, Talipes equinovarus, Clinodactyly of th...	ORPHA:289522
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Pes planus, Overriding aorta, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflex...	ORPHA:477817
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the wrists, Dela...	OMIM:241530
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Hyperthyroidism, Camptodactyl...	ORPHA:2008
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300554
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Dystrophic toenail, Symphalangi...	ORPHA:1439
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Cleft palate, Hypoplastic cervical vertebrae, Downturned cor...	OMIM:616364
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh...	OMIM:601358
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Deep philtrum, Short metatarsal, Finger clinodactyly, High palate, Sh...	OMIM:617137
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia	ORPHA:99742
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus	OMIM:619972
Distal Deletion 15Q	Thin upper lip vermilion, Hearing impairment, Abnormality of the dentition, Micrognathia, 2-3 toe...	ORPHA:1596
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad palm, Narrow palate, Broad phalanges of the hand, Tooth malposit...	OMIM:277600
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Down Syndrome	Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue, Hypoplasti...	OMIM:190685
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Acute rhabdomyolysis, Split hand, Talipes equinovarus, Pes cavus	OMIM:604168
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Micrognathia, Carious teeth, Velopharyngeal in...	OMIM:223370
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Knee dislocation, Dislocated radial head, Rhizomelia...	OMIM:245600
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai...	OMIM:184705
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp...	ORPHA:264200
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ...	OMIM:612292
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Malabsorption, Avascular ...	ORPHA:581
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Rickets of the lower limbs, Craniosynostosis, Malabsorption, Lower lim...	ORPHA:289176
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:352665
Spastic Paraplegia 52, Autosomal Recessive	Flexion contracture, Facial hypotonia, Talipes equinovarus	OMIM:614067
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, A...	ORPHA:85199
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Missing ribs, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Microtia, N...	ORPHA:3301
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Codas Syndrome	Short humerus, Short metacarpal, Cataract, Metaphyseal dysplasia, Congenital hip dislocation, Pro...	OMIM:600373
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Acce...	ORPHA:434179
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Hernia, Adducted ...	OMIM:616603
Silver-Russell Syndrome 1	Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Short middle ...	OMIM:180860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Prominent metopic ridge, Talipes, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned cor...	ORPHA:453499
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Sensorineural hearing impairment, Short foot, Hand polydact...	ORPHA:250989
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Menke-Hennekam Syndrome 2	Thin upper lip vermilion, Duodenal ulcer, Overlapping toe, Sandal gap, Micrognathia, Deep philtru...	OMIM:618333
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyela...	OMIM:615877
Enlarged Parietal Foramina	Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Prominent calcaneus, Open mouth, Cryptorchidism	ORPHA:565624
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Swoll...	OMIM:256520
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Narrow mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachydactyly	OMIM:608624
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the temporomandibular joint, Single transverse palmar crease, M...	ORPHA:536471
Igg4-Related Submandibular Gland Disease	Abnormality of the thyroid gland, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphol...	ORPHA:449432
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Wieacker-Wolff Syndrome	Facial palsy, Proximal placement of thumb, Hip dislocation, Congenital foot contractures, Distal ...	OMIM:314580
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Delayed cranial suture closure, Tapered finger, ...	OMIM:601088
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, Decreased res...	ORPHA:94089
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ...	OMIM:201180
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Death in infancy, Tented upper lip vermilion, Aganglionic megacolon...	ORPHA:847
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Congenital sensorineu...	OMIM:157800
Weill-Marchesani Syndrome 2	Short metacarpal, Hypoplasia of the maxilla, Short metatarsal, Broad palm, Elbow flexion contract...	OMIM:608328
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, High palate, Long philtrum, ...	ORPHA:2209
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr...	OMIM:615948
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand, Antecubital pterygium	OMIM:616489
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Bi...	ORPHA:284417
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Achilles tendon ...	OMIM:301041
Charcot-Marie-Tooth Disease Type 4C	Pes planus, Tongue atrophy, Abnormal foot morphology, Sensorineural hearing impairment, Hammertoe...	ORPHA:99949
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Abnormal foot morphology, Flexion contracture, 2-3 toe syndactyly, Facial...	OMIM:618186
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper...	DECIPHER:81
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Posteriorly rotated ears, Abnormality of the dentition, ...	OMIM:115150
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m...	OMIM:618106
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosi...	OMIM:248340
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Alg8-Cdg	Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Rahman Syndrome	Talipes equinovarus, Camptodactyly	OMIM:617537
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Scoliosis, Cubitus valgus	OMIM:104350
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Micrognathi...	ORPHA:199
Diamond-Blackfan Anemia	Cleft soft palate, Absent thumb, Micrognathia, Cleft lip, Short thumb, Partial duplication of thu...	ORPHA:124
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Thin upper lip vermilion, Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism...	ORPHA:2232
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo...	OMIM:158350
Joubert Syndrome 37	Sparse hair, Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Micrognathia, Sensorineural hearing impairment, Thick vermil...	OMIM:608779
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Talipes equinovarus	OMIM:614872
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Micrognathia, Multiple enchondromatosis, Hammertoe, Adenocarcinoma of t...	OMIM:620189
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Proportion...	ORPHA:280633
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central...	OMIM:309580
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
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent...	OMIM:305450
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Supernumerary nipple, Craniosynostosis, Aplasia/Hypoplasia in...	ORPHA:1521
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi...	ORPHA:818
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland...	OMIM:154500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Conductive hearing impairme...	ORPHA:444077
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Talipes cavus equinovarus, Distal amyotrophy, Hammertoe, Pes cavus	OMIM:601455
Loeys-Dietz Syndrome 4	Pes planus, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Ascending tubular ...	OMIM:614816
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Micrognathia, Protruding...	OMIM:617062
Retinitis Pigmentosa 74	Posterior polar cataract, Polydactyly	OMIM:616562
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Duodenal ulcer, Malabsorption, Steatorrhea, Brachydactyly	ORPHA:3217
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Facial hypotonia, Single transverse palmar crease, Overlapping toe, Tapered finger, Bilateral tal...	OMIM:617807
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia...	ORPHA:2604
Restrictive Dermopathy 1	Natal tooth, Rocker bottom foot, Micrognathia, Wide anterior fontanel, Submucous cleft hard palat...	OMIM:275210
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Talipes equinovaru...	ORPHA:320375
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Talipes equinovalgus, Post...	OMIM:301056
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, L...	OMIM:230600
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil...	OMIM:619777
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro...	ORPHA:1416
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Postnatal growth retardation, Congenital ...	OMIM:248700
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Congenital hip dislocation, Hip dislocation, Distal amyotrophy, Talipes equinova...	OMIM:219150
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Abnormality of the dent...	ORPHA:739
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Limb joint contracture, ...	ORPHA:505237
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Ankle clon...	ORPHA:1435
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Elbow flexion contracture, Small hand, Knee flexion contracture,...	ORPHA:371364
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypoplasia, Hiatus hernia	OMIM:601162
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate	ORPHA:2165
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Spastic Paraplegia 50, Autosomal Recessive	Adducted thumb, Talipes equinovarus, Limb hypertonia	OMIM:612936
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft palate, Cleft upper lip	OMIM:614402
Autosomal Recessive Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus	ORPHA:101150
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly, Rhizomelia,...	OMIM:613610
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Submucous cleft hard palate, Genu...	ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Narrow...	OMIM:309590
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Cryptorchidism, Cleft palate, Anteriorly placed anus, High p...	ORPHA:3338
Meckel Syndrome, Type 4	Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly, Cleft palate	OMIM:611134
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Arachnodactyly, Talipes equinovarus, Camptodactyly	OMIM:301039
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Delayed closure of the anterior ...	OMIM:607812
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Congenital hip dislocation, Po...	ORPHA:2962
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Mixed hearin...	ORPHA:51608
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Cholelithiasis, Tapered finger, Precocious puberty, Cleft lip, Hip dislocation, Cleft...	OMIM:301066
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long...	OMIM:619472
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Sensori...	OMIM:616975
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Recurrent otitis media, Neonat...	OMIM:616482
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Genu recurvatum, Overlapping toe, Flexion contracture, Elbow flexion contracture...	OMIM:617301
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300009
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Short hallux, Postnatal growth retardation, Long fingers, A...	ORPHA:3309
Laryngeal Abductor Paralysis	Talipes equinovarus	OMIM:150260
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Tongu...	OMIM:620285
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe...	ORPHA:268261
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Low-set ears,...	ORPHA:1790
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Facial hypotonia, Tapered finger, Hypoplastic aortic arch, Abnormal li...	ORPHA:261311
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proxi...	OMIM:300166
Solar Urticaria	Vertigo, Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Talipes equinovarus	OMIM:618845
Meester-Loeys Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Gingival overgrowth, High palate, Broad distal pha...	OMIM:300989
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Synophrys, Low anterio...	OMIM:148050
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Abnormal foot morphology, Cutaneous syndactyly, Talipes equ...	OMIM:617822
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Protruding tongue, C...	ORPHA:99843
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Cataract, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Shor...	OMIM:300968
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Pes planus, Inguinal hernia, Genu recurvatum, Arachnodactyly, Craniosynostosis, Metat...	OMIM:182212
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Campt...	OMIM:208150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Malar flat...	OMIM:242860
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, 4-5 finger syndactyly, Pre...	OMIM:164200
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Abn...	ORPHA:3047
Chromosome Xq13 Duplication Syndrome	Pes planus, Metatarsus adductus, Talipes equinovarus, Finger joint hypermobility, Clinodactyly of...	OMIM:301069
Blepharophimosis-Impaired Intellectual Development Syndrome	Pes planus, Tapered finger, Flexion contracture, Talipes equinovarus, Clinodactyly of the 5th fin...	OMIM:619293
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Finger syndactyly, Cam...	ORPHA:2215
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Cog1-Cdg	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia...	ORPHA:263508
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Hartsfield Syndrome	Syndactyly, Median cleft lip, Craniosynostosis, Cleft upper lip, Cryptorchidism, Gonadotropin def...	OMIM:615465
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspond...	OMIM:259770
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Clinodactyly, Talipes equinovarus	OMIM:616789
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Supernumerary nipple, Tapered finger, Abnormality of canine, Short thum...	ORPHA:477993
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Fused c...	OMIM:619227
Aprosencephaly Syndrome	Anencephaly, Hand oligodactyly	OMIM:207770
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchidism, Xerostomia, Sma...	ORPHA:398069
Marfan Syndrome	Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Dental ...	OMIM:154700
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low...	ORPHA:1519
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus	ORPHA:746
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Finger syndactyly, Abnor...	ORPHA:2911
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Rhombencephalosynapsis	Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx	ORPHA:59315
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Abnormality of the elbow, Small hand, Cleft palate, Downturn...	ORPHA:85276
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Long foot, Talipes equinovarus	OMIM:617788
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Xerostomia	ORPHA:85443
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Congenital Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Polydactyly, Low-set ears, Hearing impairment	ORPHA:93400
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Limited pronation/supination o...	ORPHA:1724
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Narrow mouth, Cryptorchidism, H...	ORPHA:3404
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin...	ORPHA:2298
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat...	OMIM:619103
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe...	ORPHA:404448
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, Flexion contracture, Talipes equinovarus	ORPHA:98791
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equ...	OMIM:618343
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Dental crowding, Rectal prolapse, Short metatarsal, Pseudohypoparathyroidism, T...	OMIM:617157
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery...	OMIM:119500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Gingival overgrowth, Rhizomelic arm s...	ORPHA:508542
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen...	ORPHA:536467
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Overlapping toe, Tapered finger, Flexion contracture, Talipes equinovarus, Broad thumb	OMIM:617452
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Talipes, Sensorineural hearing impairment, Submucous cleft hard palate, In...	OMIM:617660
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Simple ear, Short thumb, Ridged cranial sutures, Low-s...	OMIM:619325
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th...	OMIM:113620
Charge Syndrome	Micrognathia, Hand monodactyly, Hypoplasia of the ulna, Cleft upper lip, Aplasia of the semicircu...	OMIM:214800
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Prune Belly Syndrome	Talipes equinovarus, Congenital hip dislocation, Aplasia of the abdominal wall musculature	OMIM:100100
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Pes planus, Craniosynostosis, Contracture of the proximal interphalange...	OMIM:618050
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus	OMIM:618917
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Sarcoidosis, Susceptibility To, 1	Clubbing, Enlarged lacrimal glands, Arthritis, Inflammation of the large intestine, Abnormal sali...	OMIM:181000
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis...	OMIM:612731
Meckel Syndrome, Type 1	Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyly, Low-set ...	OMIM:249000
Holoprosencephaly	Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Diabetes mellitus, Talipes, C...	ORPHA:2162
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Microtia, Submucous cleft soft palate, Hearing impairment	ORPHA:2282
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Atrophic sca...	OMIM:617821
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo...	ORPHA:3353
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, ...	ORPHA:79078
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly	OMIM:617333
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Pes cavus, Talipes equinovarus, Talipes valgus	OMIM:614961
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow mouth, Mandibular aplasia, Microglossia, Narrow interna...	ORPHA:990
Neuroocular Syndrome	Hyperextensibility of the finger joints, Pes planus, Genu recurvatum, Tapered finger, Unilateral ...	OMIM:619539
Melioidosis	Foot osteomyelitis, Osteoarthritis, Abnormal parotid gland morphology, Septic arthritis, Parotitis	ORPHA:31202
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Gen...	OMIM:616268
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Brachydactyly	OMIM:616028
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hearing impairme...	ORPHA:217085
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Macrotia, Sensorineural hearing impairment, Spina...	ORPHA:500095
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac...	OMIM:619036
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum	OMIM:619321
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Pes planus, Aortic rupture, Myopathy, Atrop...	OMIM:614557
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger	OMIM:208060
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac...	OMIM:619269
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, ...	ORPHA:2044
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies...	OMIM:608022
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus	OMIM:616521
Choanal Atresia	Polydactyly, Craniosynostosis	ORPHA:137914
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hearing impairme...	ORPHA:217093
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p...	OMIM:617140
Meckel Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Ta...	ORPHA:564
Igg4-Related Ophthalmic Disease	Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis...	ORPHA:449563
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e...	ORPHA:98915
Pentalogy Of Cantrell	Absent gallbladder, Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft ...	ORPHA:1335
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi...	ORPHA:3241
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Thic...	OMIM:607872
Mend Syndrome	Sacral dimple, Cataract, Broad hallux, Overlapping toe, Long fingers, Kyphosis, 2-3 toe syndactyl...	OMIM:300960
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, P...	ORPHA:101085
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Mixed hearing impairment, Broad hallux, Mi...	OMIM:620186
Chops Syndrome	High, narrow palate, Cryptorchidism, Downturned corners of mouth, Long philtrum, Cervical C2/C3 v...	OMIM:616368
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m...	OMIM:243605
Noonan Syndrome	Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Radioulna...	ORPHA:648
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Long palm, Single transverse palm...	OMIM:309583
Fraser Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowd...	ORPHA:2052
Cinca Syndrome	Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd...	ORPHA:1451
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Adrenal hypoplasia, Cryptorch...	ORPHA:2166
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p...	OMIM:612474
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ...	OMIM:613406
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Astigmatism, Preaxial foot...	OMIM:619471
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pes planus, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 ...	OMIM:620029
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth,...	OMIM:300967
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Jacobsen Syndrome	Micrognathia, Missing ribs, Pyloric stenosis, Cryptorchidism, Annular pancreas, Clinodactyly of t...	OMIM:147791
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cowden Syndrome	Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit...	ORPHA:201
Spastic Paraplegia 51, Autosomal Recessive	Decreased muscle mass, Flexion contracture, Facial hypotonia, Talipes equinovarus	OMIM:613744
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum	ORPHA:96129
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Aortopulmonary collateral arteries, 2-3 toe syndactyly, Aortopulmonary window,...	OMIM:620025
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,...	ORPHA:536545
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Icf Syndrome	Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears	ORPHA:2268
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar ...	ORPHA:252183
X-Linked Agammaglobulinemia	Sinusitis, Malabsorption, Sensorineural hearing impairment, Glossoptosis, Arthritis, Chronic otit...	ORPHA:47
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Cleft upper lip, Micrognathia, Esophageal atresia, Preaxial hand polydact...	ORPHA:93271
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Rocker bottom foot, Flexion contracture, Elbow flexion contracture, Hip dislocat...	OMIM:618947
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Low-set ...	OMIM:213300
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty...	OMIM:619879
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow...	ORPHA:709
Mucopolysaccharidosis, Type Vii	Diastasis recti, Metatarsus adductus, Postnatal growth retardation, Flexion contracture, Genu val...	OMIM:253220
Chromosome 18Q Deletion Syndrome	Pes planus, Inguinal hernia, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placem...	OMIM:601808
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Prune Belly Syndrome	Talipes equinovarus, Congenital hip dislocation, Aplasia of the abdominal wall musculature	ORPHA:2970
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Talipes equinov...	ORPHA:363528
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Exaggerated...	OMIM:312870
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Small hand, Short foot, Cutaneous finger syndactyly, Talipes e...	OMIM:235510
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Talipes equinovarus, ...	OMIM:277380
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus	ORPHA:544469
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Congenital Disorder Of Glycosylation, Type Ih	Talipes equinovarus, Camptodactyly	OMIM:608104
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Single transverse palmar crease, Type 2 muscle fiber predominance, Myopa...	OMIM:619743
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Sensorineural hearing impairment, Ankle clonus, Tongue fasciculations, Death in c...	OMIM:211530
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Small hand, Cleft palate, Genu valgum, Hy...	ORPHA:1449
Seckel Syndrome 9	Pulmonary artery hypoplasia, Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:616777
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM...	OMIM:618733
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Increased bone mineral...	ORPHA:800
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Umbilical hernia, Long hallux	OMIM:619234
Schimke Immunoosseous Dysplasia	Osteopenia, Arteriosclerosis, Talipes equinovarus, Lateral displacement of the femoral head, Hypo...	OMIM:242900
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Death in childhood	OMIM:600460
Mgat2-Cdg	Dental crowding, Abnormality of the endocrine system, Hypoplastic nipples, Open mouth, Brachydactyly	ORPHA:79329
Meckel Syndrome, Type 6	Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial foot pol...	OMIM:612284
C Syndrome	Joint dislocation, Death in infancy, Toe syndactyly, Talipes, Micromelia, Micrognathia, Accessory...	ORPHA:1308
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis	OMIM:217100
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cutaneous syndacty...	OMIM:619148
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Talipes, Cleft upper lip, Abnormal soft...	ORPHA:138
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, P...	ORPHA:522077
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Cataract, Single transverse palmar crease, Deep palmar crease, Polydactyly, Campto...	OMIM:247200
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,...	OMIM:610168
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Cleft palate, Hypoplastic pelvis, Low-set ears, Tetraamelia, Anal ...	OMIM:273395
Blau Syndrome	Camptodactyly of finger, Xerostomia, Synovitis, Joint swelling, Polyarticular arthritis, Abnormal...	ORPHA:90340
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Uplifted earlobe, Micrognathia, Widely spaced tee...	OMIM:619841
Mucolipidosis Ii Alpha/Beta	Osteopenia, Inguinal hernia, Diastasis recti, Craniosynostosis, Coxa valga, Metaphyseal widening,...	OMIM:252500
Muir-Torre Syndrome	Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Noonan Syndrome 13	Pes planus, Overlapping toe, Lower limb asymmetry, Tapered finger, Metatarsus adductus, Bilateral...	OMIM:619087
Velocardiofacial Syndrome	Talipes, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnorm...	OMIM:192430
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Proximal placement of thumb, Postnatal growth retardation, Lon...	OMIM:616263
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co...	OMIM:612289
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Talipes equinovarus, Camptodactyly, Cubitus...	OMIM:214110
Noonan Syndrome 1	Micrognathia, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate, Synovitis, ...	OMIM:163950
49,Xxxyy Syndrome	Finger clinodactyly, Bilateral talipes equinovarus, Abnormal plantar dermatoglyphics	ORPHA:261534
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Corneal opacity, Kyphosis, Astigmatism, Polydactyl...	ORPHA:464306
Monosomy 9Q22.3	Cataract, Short neck, Palmar pits, Kyphosis, Abnormality of the vertebral column, Polydactyly, Me...	ORPHA:77301
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Holoprosencephaly 13, X-Linked	Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Cleft palate, Mi...	OMIM:301043
Optic Atrophy 11	Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, F...	OMIM:617302
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Torticollis, Progressive flexion contractures, Talipe...	ORPHA:98808
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor...	ORPHA:261537
Mucopolysaccharidosis Type 2	Otosclerosis, Sensorineural hearing impairment, Temporomandibular joint ankylosis, Gingival overg...	ORPHA:580
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:612530
Bladder Exstrophy And Epispadias Complex	Anteriorly placed anus, Abnormal pelvic girdle bone morphology	OMIM:600057
Khan-Khan-Katsanis Syndrome	Sacral dimple, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Delayed closure of the a...	OMIM:618460
Mucopolysaccharidosis, Type Ivb	Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Coxa valga, Metaphyseal widening, ...	OMIM:253010
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Polydactyly, Sparse lateral eyebrow	ORPHA:314655
49,Xxxxy Syndrome	Pes planus, Abnormal dental enamel morphology, Coxa valga, Elbow dislocation, Hip dislocation, Ra...	ORPHA:96264
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty...	ORPHA:363958
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celiac disease...	ORPHA:293987
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Widow's peak, Broad pa...	OMIM:227330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of the maxilla, Cleft palate,...	ORPHA:500150
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Talipes e...	OMIM:618651
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss...	ORPHA:89842
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor...	ORPHA:2152
Alg12-Cdg	Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers, Abnormal bon...	ORPHA:79324
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Wide mouth, Pes valgus, Sh...	ORPHA:466950
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume, Brachydactyly	ORPHA:168577
Pgm3-Cdg	Lactose intolerance, Decreased/absent ankle reflexes, High palate, Esophagitis, Chronic sinusitis...	ORPHA:443811
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Talipes equinovarus, Femoral bowing	OMIM:615415
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Malabsorption	OMIM:240300
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Tapered finger, Macroglossia, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb	OMIM:614501
Autosomal Dominant Cutis Laxa	Osteopenia, Pes planus, Inguinal hernia, Genu recurvatum, Postnatal growth retardation, Adducted ...	ORPHA:90348
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, High palate, Conductive he...	ORPHA:740
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Polydactyly, Sparse hair	OMIM:619869
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri...	ORPHA:2729
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Alkaptonuria	Joint dislocation, Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Joint s...	ORPHA:56
Kleefstra Syndrome	Pulmonary artery stenosis, Coarctation of aorta, Macroglossia, Talipes equinovarus, Hernia	ORPHA:261494
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	OMIM:619476
Adams-Oliver Syndrome 1	Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachyd...	OMIM:100300
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Downturned corners of mout...	ORPHA:466943
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Hand muscle weakness, Arefle...	ORPHA:99956
Adult-Onset Still Disease	Cartilage destruction, Joint swelling, Arthritis	ORPHA:829
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra...	ORPHA:99646
Spinocerebellar Ataxia Type 36	Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment	ORPHA:276198
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Diastasis recti, Craniosynostosis, Limited wrist movement, Post...	ORPHA:576
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi...	OMIM:122470
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia,...	ORPHA:457284
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Hearing impairment	OMIM:614153
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor...	ORPHA:261552
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t...	OMIM:148210
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Thyroiditis, Pedal edema, Sialadenitis, Chronic sinusitis	ORPHA:449395
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Wide mouth, Widely sp...	ORPHA:98794
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Posteriorly rotated ears, Craniosynostosis, Micrognathia, C...	ORPHA:2745
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Aganglionic megacolon, Short palm	ORPHA:3339
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Glucagonoma	Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Elevated circulating growth ...	ORPHA:97280
Mosaic Trisomy 9	Camptodactyly of finger, Micromelia, Rocker bottom foot, Elbow dislocation, Hip dislocation, Fing...	ORPHA:99776
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Talipes equinovarus, Camptodactyly	ORPHA:314679
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Monosomy 18Q	Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Left aortic arch wit...	ORPHA:1600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus	OMIM:619752
Jaberi-Elahi Syndrome	Hand clenching, Talipes equinovarus	OMIM:617988
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:180849
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe...	OMIM:257980
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Degcags Syndrome	Micrognathia, High palate, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion border, Low-se...	OMIM:619488
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met...	OMIM:272950
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Tali...	OMIM:225500
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Talipes equinovarus	OMIM:617865
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Micrognathia, Structur...	ORPHA:1662
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Pyloric stenosis, Cryptorchidism...	ORPHA:1606
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Talipes equinovarus	OMIM:177980
Developmental And Epileptic Encephalopathy 89	Omphalocele, Limb undergrowth, Flexion contracture, Talipes equinovarus	OMIM:619124
Legius Syndrome	Cataract, Diaphyseal dysplasia, Polydactyly, Scoliosis, Lisch nodules, Clinodactyly of the 5th fi...	ORPHA:137605
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus	OMIM:191830
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Torticollis, Broad hallux, Tapered finger, Short thumb, Bilateral talipes equinovarus...	OMIM:620224
Sarcoidosis	Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Enlargement of parotid gland, Join...	ORPHA:797
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Hip dislocation, Absent Achilles reflex, Short foot, Macroglossia, Fibular bowin...	OMIM:618268
Mirage Syndrome	Overlapping fingers, Rocker bottom foot, Radial club hand, Talipes equinovarus	OMIM:617053
Barth Syndrome	Skeletal myopathy, Talipes equinovarus	OMIM:302060
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:618797
Alpha-Mannosidosis, Infantile Form	Osteopenia, Facial hypotonia, Craniosynostosis, Cranial hyperostosis, Osteolysis, Genu valgum, Ma...	ORPHA:309282
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pes planus, Hyperextensibility of the finger joints, Inguinal hernia, Overlapping toe, Craniosyno...	OMIM:213980
Galloway-Mowat Syndrome 1	Hiatus hernia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture of the hand,...	OMIM:251300
Loeys-Dietz Syndrome 1	Arachnodactyly, Craniosynostosis, Descending thoracic aorta aneurysm, Postaxial hand polydactyly,...	OMIM:609192
Simpson-Golabi-Behmel Syndrome	Omphalocele, Finger syndactyly, Inguinal hernia, Congenital hip dislocation, Toe syndactyly, Camp...	ORPHA:373
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ac...	OMIM:225400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Talipes equinovarus	OMIM:619859
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe sy...	OMIM:300707
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Sinusitis, Aplasia of the thymus, Abnormal pelvic girdle bone morphol...	OMIM:102700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Cryptorchidism, Short toe, Short foot, Posterior pitui...	ORPHA:464311
D-Bifunctional Protein Deficiency	Osteopenia, Decreased muscle mass, Split hand, Hammertoe, Talipes equinovarus	OMIM:261515
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Joint contracture of the hand, Congenital finger flexion contractures, Flexion co...	ORPHA:466768
Bilateral Polymicrogyria	Facial diplegia, Arthrogryposis multiplex congenita, Talipes equinovarus, Abnormality of masticat...	ORPHA:268940
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Japanese Encephalitis	Skeletal muscle atrophy, Genu recurvatum, Facial palsy, Elbow flexion contracture, Distal upper l...	ORPHA:79139
Tracheobronchopathia Osteochondroplastica	Esophagitis, Calcification of cartilage	ORPHA:3348
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Flexion contracture, Talipes equinovarus, Corneal scarring	OMIM:614653
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Juvenile Sialidosis Type 2	Hearing impairment, Gingival overgrowth, Low-set ears, Protruding tongue	ORPHA:93399
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Hearing impairment, Protruding tongue	OMIM:619580
Trisomy 10P	Thumb contracture, Decreased muscle mass, Abnormality of the hand, Abnormal foot morphology, Shor...	ORPHA:171929
Isolated Exencephaly	Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Posterior ...	ORPHA:563612
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Hip subluxation, Hip dislocation, Os...	OMIM:182250
16P13.11 Microdeletion Syndrome	Talipes equinovarus, Camptodactyly of finger, Metatarsus valgus	ORPHA:261236
Angelman Syndrome	Mandibular prognathia, Precocious puberty in females, Protruding tongue, Wide mouth, Widely space...	ORPHA:72
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Proximal placement of thumb, Deep palmar crease, Talipes equinovarus, Clinodactyly of the 5th fin...	OMIM:604314
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hip dislocation, Ascending tubular aorta an...	OMIM:617403
Lathosterolosis	Toe syndactyly, Foam cells with lamellar inclusion bodies, Postaxial hand polydactyly, Osteoporos...	OMIM:607330
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Talipes equinovarus, Coarctation of aorta	OMIM:617260
Desmosterolosis	Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogryposis multiplex c...	OMIM:602398
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esophageal varix, Bilateral c...	OMIM:301068
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly	OMIM:616546
Loeys-Dietz Syndrome 3	Knee osteoarthritis, Abdominal aortic aneurysm, Arachnodactyly, Uterine prolapse, Umbilical herni...	OMIM:613795
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Parkinsonian-Pyramidal Syndrome	Talipes equinovarus, Hypomimic face	ORPHA:171695
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Epiphyseal stippling, Talipes equinovarus, ...	OMIM:614866
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Congenital Disorder Of Glycosylation, Type 2V	Talipes equinovarus	OMIM:619493
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Curly hair, Sacral dimple, Cataract, Overlapping toe, Congenital hip dislocation, ...	ORPHA:480880
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Giant Cell Arteritis	Vertigo, Arthritis, Conductive hearing impairment, Glossitis, Hearing impairment	ORPHA:397
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res...	ORPHA:293978
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Cerebrooculonasal Syndrome	Sparse eyelashes, Postaxial polydactyly, Craniosynostosis, Sparse eyebrow, Postaxial hand polydac...	OMIM:605627
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu...	ORPHA:653
Cloacal Exstrophy	Omphalocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology,...	ORPHA:93929
Craniofacial Microsomia 1	Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus...	OMIM:164210
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease...	ORPHA:227982
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Bilateral tal...	OMIM:255995
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Small hand, Osteoporosis, Short foot, Talipes equinovaru...	OMIM:268400
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ...	ORPHA:1051
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis	ORPHA:2396
Classical Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia...	ORPHA:287
Wolf-Hirschhorn Syndrome	Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Short thumb, Abnormal foot morphol...	ORPHA:280
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary adrenal i...	ORPHA:227990
Reactive Arthritis	Cartilage destruction, Arthritis, Inflammation of the large intestine, Joint swelling, Recurrent ...	ORPHA:29207
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma...	OMIM:615726
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O...	ORPHA:1359
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Cryptorchidism, Downturned corners of mouth, Macroglossia, Everted lower lip v...	ORPHA:96147
Williams Syndrome	Micrognathia, Rectal prolapse, Protruding ear, Microdontia, Clinodactyly of the 5th finger, Chron...	ORPHA:904
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Decreased circulati...	OMIM:201750
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Abetalipoproteinemia	Osteopenia, Myopathy, Talipes equinovarus, Distal lower limb muscle weakness, Pes cavus	ORPHA:14
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Precocious puberty, Deep philtrum, Cryptorchidism, Abnormali...	ORPHA:438213
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Submucous cleft hard palate, Pes cavus	OMIM:618891
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, High, narrow palate, Short uvula, Cupped ear, Genu valgum, Broad philtr...	OMIM:619475
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Talipes cavus equinovarus, Postnatal growth retardation, Short digit	OMIM:300966
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Postnatal growth retardation, Long fingers, Talipes equinovarus, Slender fi...	OMIM:613355
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Foot joint contracture, Oral mucosal...	ORPHA:79408
Rett Syndrome, Congenital Variant	Pes planus, Talipes equinovarus	OMIM:613454
Iniencephaly	Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus...	ORPHA:63259
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, A...	ORPHA:353277
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Abnormal ea...	ORPHA:116
Bilateral Perisylvian Polymicrogyria	Protruding tongue, Ectopic posterior pituitary, Micrognathia	ORPHA:98889
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short...	OMIM:194190
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Atrophic scars, Distal arthrogryposis, ...	OMIM:601776
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Generalized Pustular Psoriasis	Arthritis, Geographic tongue, Cheilitis, Pedal edema	ORPHA:247353
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Talipes equinovarus, Tapered finger	OMIM:613603
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ...	OMIM:157170
Limb Body Wall Complex	Ventral hernia, Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmati...	ORPHA:2369
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture	OMIM:619708
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Craniosynostosis	OMIM:601374
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Pes planus, Overlapping toe, Knee flexion contracture, Talip...	OMIM:617402
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Clubbing of toes, Short foot, Bilateral talipes equinovarus, Pes cavus, Peripher...	ORPHA:163956
22Q11.2 Deletion Syndrome	Inguinal hernia, Arachnodactyly, Abnormal dental enamel morphology, Abnormal aortic arch morpholo...	ORPHA:567
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip...	OMIM:200110
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Hearing impairment, Furrowed tongue	OMIM:158310
Split Cord Malformation	Pes planus, Lower limb asymmetry, Abnormal foot morphology, Talipes cavus equinovarus, Talipes eq...	ORPHA:573278
Otosclerosis 10	Otosclerosis	OMIM:615589
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Agel Amyloidosis	Tongue atrophy, Xerostomia, Hearing impairment	ORPHA:85448
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Long fingers, Bilateral talipes equinovarus, Clinodactyly of the 5th ...	OMIM:619512
Ehlers-Danlos Syndrome, Vascular Type	Inguinal hernia, Descending aortic dissection, Cigarette-paper scars, Cystocele, Foot acroosteoly...	OMIM:130050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Abnormality of the temporomandibular joint, Open mouth, Protruding tongue	ORPHA:258
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac...	ORPHA:273
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Myositis, Bilateral single transverse palmar creases, Abnor...	ORPHA:3310
8P11.2 Deletion Syndrome	Talipes equinovarus	ORPHA:251066
Neurooculorenal Syndrome	Postnatal growth retardation, Short 1st metacarpal, Talipes equinovarus, Short hallux	OMIM:620305
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Kyphos...	OMIM:309800
Renal Agenesis	Talipes equinovarus	ORPHA:411709
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Submucous c...	OMIM:235730
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Low-set ears, Smooth philtrum	ORPHA:79282
Costello Syndrome	Hyperextensibility of the finger joints, Rhabdomyosarcoma, Limited elbow movement, Achilles tendo...	OMIM:218040
Microsporidiosis	Sinusitis, Abnormality of the parathyroid gland, Thyroiditis, Adrenocortical abnormality, Glossitis	ORPHA:2552
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Congenital hip dislocation, Hypoplastic aortic arch, Coarctation of aorta, Bilateral...	OMIM:306955
Sacral Defect With Anterior Meningocele	Sacral lipoma, Bilateral talipes equinovarus	OMIM:600145
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Inguinal hernia, Congenital hip dislocation, Aplasia/Hypoplasia of the abdomina...	ORPHA:286
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia	OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 38	Talipes equinovarus	OMIM:616393
Fanconi Anemia, Complementation Group L	Absent radius, Bilateral talipes equinovarus, Absent thumb	OMIM:614083
Sotos Syndrome	Hip contracture, Inguinal hernia, Pes planus, Ankle flexion contracture, Craniosynostosis, Bilate...	ORPHA:821
Oeis Complex	Omphalocele, Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Kawasaki Disease	Arthritis, Glossitis, Cheilitis	ORPHA:2331
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest...	ORPHA:707
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Knee dislocation, Polydactyly, Broad t...	OMIM:619534
Choreoacanthocytosis	Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop...	ORPHA:2388
Penile Agenesis	Bilateral talipes equinovarus	ORPHA:49

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 Pitx1

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 Pitx1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pitx1^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pitx1^{em1(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pitx1^{em1(IMPC)Wtsi} Pitx1^{em1(IMPC)Wtsi} Pitx1^em1Wtsi	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pitx1^em1Wtsi	PMC6459510

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MGI Allele	Allele Type	Produced
Pitx1^{tm208889(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pitx1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Pitx1^{em1(IMPC)Wtsi}	Deletion	Mice

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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Gene: Pitx1 MGI:107374

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

DSS Histology

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pitx1 mutations

Histopathology

IMPC related publications

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