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

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 Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

5 Images

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Anti-nuclear antibody assay

Images

4 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 (2205 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		Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft p...	OMIM:119800
Brachydactyly-Elbow Wrist Dysplasia Syndrome		Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275

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

Disease	Matching phenotypes	Source
Upington Disease	Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head	OMIM:191520
Upington Disease	Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse...	ORPHA:3408
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Metachondromatosis	Multiple enchondromatosis, Abnormal epiphysis morphology, Abnormal metaphysis morphology	ORPHA:2499
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Sensorineural hearing...	ORPHA:440354
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga	OMIM:613618
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Clinodactyly, Long philtrum, Slender long bone, Hypoplas...	OMIM:613805
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Dermochondrocorneal Dystrophy	Abnormality of the hand, Corneal dystrophy, Large hands	ORPHA:79149
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal...	ORPHA:3104
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, S...	OMIM:258860
Femoral-Facial Syndrome	Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Short femu...	ORPHA:1988
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Small hand, Abnormal hand morphology, Malar flattening, Short foot, Cleft palate	OMIM:300261
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c...	ORPHA:1972
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat...	ORPHA:1388
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,...	OMIM:249710
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Meier-Gorlin Syndrome 4	Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Thick lower lip verm...	OMIM:613804
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	OMIM:619216
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Patellar aplasia, Arachnoda...	ORPHA:2058
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Absent radius,...	ORPHA:3320
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:3314
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mout...	OMIM:201170
Rapadilino Syndrome	High, narrow palate, Aplasia/Hypoplasia of the radius, Absent thumb, Hearing impairment, Joint di...	OMIM:266280
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Hirsutism, Corneal opacity, Br...	OMIM:277950
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Distal arthrogryposis...	OMIM:614335
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	OMIM:268305
Meier-Gorlin Syndrome 1	Low-set ears, Small hand, Joint contracture of the hand, Atresia of the external auditory canal, ...	OMIM:224690
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u...	OMIM:119100
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Genitopatellar Syndrome	Low-set ears, Hypoplastic ilia, Delayed eruption of teeth, Hearing impairment, Long philtrum, Mic...	ORPHA:85201
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Cleft palate, Synda...	ORPHA:294975
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Low-set,...	ORPHA:2631
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen...	OMIM:112800
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Gombo Syndrome	Brachydactyly, Delayed puberty, Radial deviation of finger, Clinodactyly	OMIM:233270
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Retrognathia, Radial deviation of the hand, Short tibia, Long philtrum,...	ORPHA:2756
Tetrasomy X	Abnormality of the dentition, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly o...	ORPHA:9
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis	OMIM:614416
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Abnormality of the dentition, Hearing impairment, Dow...	ORPHA:96167
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Nail-Patella Syndrome	Elongated radius, Cleft upper lip, Quadriceps aplasia, Hypoplastic radial head, Patellar hypoplas...	OMIM:161200
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tooth agenesis, Tibial torsion, Irregular epiphyses, Small epiphyses, Osteo...	OMIM:600204
Scholte Syndrome	Small hand, Patellar hypoplasia, Everted lower lip vermilion, Acromicria, Short foot	OMIM:300977
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap...	OMIM:618435
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Pelviscapular Dysplasia	Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft p...	OMIM:119800
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Congenital Patella Dislocation	Genu valgum, Knee flexion contracture, Limited knee extension, Patellar dislocation, Aplasia/Hypo...	ORPHA:295036
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Ta...	OMIM:108720
Mosaic Trisomy 8	Hearing impairment, Deep plantar creases, Camptodactyly of finger, Micrognathia, Abnormal antihel...	ORPHA:96061
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ...	ORPHA:1326
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Protruding ear, Patellar hypoplasia, Micrognathia, Macrotia	OMIM:251240
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi...	OMIM:185900
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c...	OMIM:265000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Clinodactyly of the 5th finger, Synophry...	ORPHA:3268
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Hyporeflexia of upper limbs, Knee dislocation, Type 1 muscle f...	ORPHA:178145
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Scoliosis, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Lumba...	OMIM:271530
Atelosteogenesis Type Ii	Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognat...	ORPHA:56304
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,...	OMIM:184255
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, ...	OMIM:601357
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai...	ORPHA:2554
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon...	OMIM:102510
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow...	ORPHA:1802
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Meier-Gorlin Syndrome 2	Slender long bone, Micrognathia, Narrow mouth, Patellar aplasia, Smooth philtrum, Camptodactyly, ...	OMIM:613800
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo...	ORPHA:2501
Jawad Syndrome	Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang...	OMIM:251255
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Anal atresia, Flat acetabular roof, Macrotia, Cleft lip, Hamartoma of t...	OMIM:616300
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ...	OMIM:600175
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Meier-Gorlin Syndrome 3	Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasi...	OMIM:613803
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Hy...	OMIM:612447
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Distal lower limb amyotrophy, Lower limb muscle weakness, Upper limb amyotrophy	ORPHA:99940
Nail-Patella Syndrome	Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Contracture of the dist...	ORPHA:2614
Spondylometaphyseal Dysplasia, Type A4	Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic...	OMIM:609052
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Enchondromatosis, Multiple, Ollier Type	Multiple enchondromatosis, Abnormal long bone morphology	OMIM:166000
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ...	OMIM:186500
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, High palate, Cle...	OMIM:619110
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Symphalangism, Proximal, 1A	Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Aplasia/Hypoplasi...	OMIM:185800
Meier-Gorlin Syndrome 6	Microretrognathia, Conductive hearing impairment, Sandal gap, Stenosis of the external auditory c...	OMIM:616835
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Bilateral conductive hearing impairment, Sandal gap, Agenesis of pe...	OMIM:216300
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Kyphomelic Dysplasia	Low-set ears, Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumbbell-shaped hume...	OMIM:211350
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle...	ORPHA:141152
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Bowen-Conradi Syndrome	Camptodactyly of finger, Micrognathia, Death in infancy, Orofacial cleft, Clinodactyly of the 5th...	ORPHA:1270
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, S...	ORPHA:1106
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Sensorineural hearing impairment, Hand polydactyly, Hip disloc...	OMIM:223200
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr...	ORPHA:1406
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Conductive hearing impairment, Dumbbell-shaped femur...	OMIM:156550
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Pes cavus, Abnormal antihelix morphology, Protruding ear, Thin up...	ORPHA:3041
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger	ORPHA:1471
Atelosteogenesis Type I	Low-set ears, Rhizomelia, Joint dislocation, Micrognathia, Talipes equinovarus, Limb undergrowth,...	ORPHA:1190
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Abnormality of the dentition, Toe syndactyly, Sandal gap, Micrognat...	ORPHA:217340
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Deep philtrum, Metatarsus adduct...	OMIM:158300
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Spastic Paraplegia 33, Autosomal Dominant	Talipes equinovarus, Lower limb muscle weakness, Ankle clonus	OMIM:610244
Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Low-set ears, Tooth malposition, Short 5th finger, Hearing impairment, Micrognathia, Thin upper l...	OMIM:618608
Legg-Calvé-Perthes Disease	Abnormality of the dentition, Joint dislocation, Cartilage destruction	ORPHA:2380
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnormal palate morpholog...	ORPHA:1278
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Abnormal foot morpholo...	ORPHA:94068
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory...	OMIM:277170
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly, Short phil...	OMIM:614257
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Kuskokwim Syndrome	Talipes, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella	ORPHA:1149
Mucopolysaccharidosis, Type Ix	Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Periarticular so...	OMIM:601492
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Cryptorchidism, Pseudohypo...	ORPHA:464288
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Talipes equinovarus, Hip dysplasia	ORPHA:238578
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Micrognathia, Rocker bottom foot, Abnormal joint morphology	OMIM:211180
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Stap...	OMIM:184460
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Abnormal metacar...	ORPHA:166100
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Malar flattening, Abnormality of the ear, Split hand, Cleft palate,...	OMIM:183700
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty...	OMIM:258865
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Abnormal epiphysis morphology, Hearing impairment, Sandal gap, Widely ...	ORPHA:261279
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Narrow mouth, Abnormal metacarpal morphology, Brachydacty...	ORPHA:2370
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Knee dislocation, Hammertoe, Hip dislocation, Hip dysplasia	ORPHA:370943
Ventriculomegaly And Arthrogryposis	Hand clenching, Talipes equinovarus, Arthrogryposis multiplex congenita, Ulnar deviation of the w...	OMIM:619501
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Conductive hearing impairment, Broad hallux, Abnormal thumb morphology, Bifid distal...	ORPHA:2669
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Anterior hypopituitarism, Mic...	ORPHA:2863
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
Emery-Nelson Syndrome	Long philtrum, Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb m...	ORPHA:1927
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win...	OMIM:609945
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Retrognathia, Elbow fl...	OMIM:108120
Lethal Kniest-Like Dysplasia	Low-set ears, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog...	ORPHA:2347
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Achondroplasia	Rhizomelia, Conductive hearing impairment, Radial bowing, Flared metaphysis, Recurrent otitis med...	OMIM:100800
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Intestinal malrotati...	OMIM:614701
Penoscrotal Transposition	Clinodactyly of the 5th finger, Micrognathia, Patellar aplasia, Bilateral single transverse palma...	ORPHA:2842
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Li-Campeau Syndrome	Low-set ears, Patellar hypoplasia, Long philtrum	OMIM:619189
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Brachydactyly, Mandibular ...	ORPHA:1919
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Short distal phalanx of the thumb, Hearing impairment, Bifid distal phalanx of the t...	OMIM:256200
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism	ORPHA:3303
Feingold Syndrome Type 2	Toe syndactyly, Short thumb, Jejunal atresia, Brachydactyly, Short middle phalanx of finger	ORPHA:391646
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Talipes calcaneovalgus, Adducted thumb, Brachydactyly, Camptodactyly, Short ...	ORPHA:444051
Digital Extensor Muscle Aplasia-Polyneuropathy	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2926
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Tented philtrum, Bilateral coxa valga, Patellar hypoplasia, Esophagitis, Narrow mou...	ORPHA:495818
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Fractured radius, Unilateral cleft lip, Flared metaphysis, Large fleshy ears, Decre...	OMIM:616897
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Rothmund-Thomson Syndrome Type 2	Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Cryptorch...	ORPHA:221016
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal joint morphology, Micrognathia, Fibular bowing, Sensorineural hear...	ORPHA:1427
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal cornea morphology, Preaxial foot polydac...	ORPHA:65759
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane...	ORPHA:166024
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi...	ORPHA:3201
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Calf muscle hypoplasia, Distal upper limb muscle weakness, Absent Achilles reflex, Distal lower l...	ORPHA:90103
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Hearing impairment, Clinodactyly, Cleft soft palate, Micrognathia, Sensorineural hea...	OMIM:616331
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Hearing impairment, Costal cartilage c...	OMIM:222600
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Anterior hypopituitarism, M...	OMIM:241800
Stuve-Wiedemann Syndrome 1	Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Tal...	OMIM:601559
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Intellectual Developmental Disorder, Autosomal Recessive 74	Narrow palate, Mandibular prognathia, Brachydactyly	OMIM:617169
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Cataract, Toe syndactyly, Finger syndactyly, Preaxial polydactyly,...	ORPHA:64754
Orofaciodigital Syndrome Xix	Low-set ears, Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narro...	OMIM:620107
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Short greater sciatic notch, Coxa valga	OMIM:271620
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod...	ORPHA:429
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Fin...	ORPHA:3429
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Auriculoosteodysplasia	Dislocated radial head, Hip dysplasia	OMIM:109000
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial foot polydactyly, Solitary median maxillary central incisor, Brachydacty...	OMIM:193530
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal...	OMIM:128980
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor...	ORPHA:1837
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Micrognathia, Talipes equinovarus, Rocker bottom foot, Cleft palate	OMIM:616570
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent f...	OMIM:618529
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Wide anterior fontanel, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, ...	OMIM:617925
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Talipes, Clinodactyly of the 5th fing...	ORPHA:376
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Patellar hypoplasia, Toot...	ORPHA:221008
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Hearing impairment, Micromelia, Femoral bowing, Bowing of the long bones, Abnor...	ORPHA:1860
Odontochondrodysplasia 1	Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Genu recurvatum, Micromelia, Delayed e...	OMIM:184260
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyse...	OMIM:620269
Acromesomelic Dysplasia, Maroteaux Type	Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones, Bea...	ORPHA:40
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ...	OMIM:608340
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Fetal Akinesia Deformation Sequence 4	Low-set ears, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Campt...	OMIM:618393
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa...	ORPHA:63442
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flatte...	OMIM:618363
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Toe syndactyly, Large earlobe, Elbow flexion contracture, Death in childhood, Hip contracture, Kn...	OMIM:616809
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Avascular necrosis of the capital femoral...	ORPHA:93308
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closur...	ORPHA:2511
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat...	OMIM:108721
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Auriculocondylar Syndrome 2A	Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn...	OMIM:614669
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagitt...	OMIM:615314
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Upper limb muscle weakness, Distal lower limb amyotrophy, Pes cavus, D...	OMIM:609311
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Increased connective tissue, Tali...	OMIM:616827
Baller-Gerold Syndrome	Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Patella...	OMIM:218600
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Pes planus, Frontal encephalo...	ORPHA:521308
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi...	OMIM:604864
Sprengel Deformity	Abnormality of the shoulder girdle musculature, Torticollis, Shoulder muscle hypoplasia	ORPHA:3181
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Conical tooth, Toe syndactyly, Selective tooth agenesis, Absent m...	OMIM:124480
Craniometaphyseal Dysplasia, Autosomal Dominant	Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu...	OMIM:123000
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	OMIM:609166
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c...	OMIM:609441
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic...	ORPHA:969
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Pes cavus, Foot dorsiflexor weakness, Talipes equinovarus, Lower limb amyotrophy, Upper limb amyo...	OMIM:617087
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Femoral bowing, Osteosclero...	OMIM:602080
Mullegama-Klein-Martinez Syndrome	Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Atresia of the ext...	OMIM:301022
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Rocker bottom foot, Long philtrum, Camptodactyly of finger, Ulnar deviatio...	OMIM:601680
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Cryptorchidism, Oligodont...	OMIM:600325
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Malar flattening, Aplasia/hypoplasia of...	OMIM:146000
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, Cryptorchidism, Polydactyly, Brachydactyly, Syndactyly	OMIM:615982
Ivic Syndrome	Absent thumb, Hearing impairment, Short 1st metacarpal, Carpal synostosis, Intestinal malrotation...	OMIM:147750
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Wide distal femoral metaphysis...	ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, M...	OMIM:184250
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus, Skeletal muscle atrophy	OMIM:615683
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Pes planus, Brach...	ORPHA:1777
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place...	ORPHA:1225
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Downturned corners of mo...	OMIM:301026
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, Sparse eyebrow, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 fin...	OMIM:225280
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, Upli...	OMIM:618779
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact...	ORPHA:3258
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Coronal craniosynos...	OMIM:614188
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Iris coloboma, S...	OMIM:610023
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, Oligodactyly, Abno...	ORPHA:1307
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, L...	OMIM:619143
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy	OMIM:253310
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, Ab...	ORPHA:1452
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Abnormal palate morpholog...	ORPHA:921
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Atresia of the external auditory canal, Heari...	ORPHA:1508
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Macroglossia	ORPHA:1423
Acrootoocular Syndrome	High, narrow palate, Small hypothenar eminence, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Developmental Dysplasia Of The Hip 2	Coxa valga, Hip dysplasia	OMIM:615612
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fi...	OMIM:613091
Anauxetic Dysplasia 2	Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Hypodontia, Brachydactyly...	OMIM:617396
11Q22.2Q22.3 Microdeletion Syndrome	High, narrow palate, Small hand, Micrognathia, Bilateral single transverse palmar creases, Thin u...	ORPHA:444002
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal absce...	OMIM:614684
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe...	OMIM:251450
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Whistling appearance, Downturned corners of mouth, Low-set, posteriorly rotated ears, Abnormal sh...	ORPHA:1150
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus, Flexion contracture, Skeletal muscle atrophy	OMIM:613162
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Hearing impairment, Flared ...	ORPHA:93346
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Pedal edema, Arthralgia of the hip, Metaphyseal spurs, Abnormal ...	ORPHA:166011
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Talipes equinovarus, Lower lim...	ORPHA:496689
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin...	OMIM:608728
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed eruption of teeth, ...	ORPHA:166272
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Hyporeflexia of lower limbs, Lower limb muscle weakness,...	OMIM:615290
Hypomelanosis Of Ito	Cataract, Alopecia, Radial deviation of finger, Clinodactyly, Hand polydactyly, Scoliosis, Iris c...	OMIM:300337
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long philtrum, Short ...	OMIM:190351
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Ovoid vertebral bodies,...	OMIM:102370
Acrodysostosis	Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, ...	ORPHA:950
Arthrogryposis, Distal, Type 2E	Talipes equinovarus, Joint contracture of the hand, Foot joint contracture, Distal arthrogryposis	OMIM:121070
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Malar flattening, Single transverse palmar crease, Cryptorchidism, B...	OMIM:101805
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Low-set ears, Hand clenching, Micrognathia, Narrow mouth, Death in childhood, Death in infancy, T...	OMIM:618766
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Brachydactyly	OMIM:618879
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Genu valgum, Metaphyseal enchondromatosis, Verte...	ORPHA:85198
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ...	OMIM:181405
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi...	ORPHA:314795
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology	ORPHA:296
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Death in infancy, Short ribs, Brachydactyly, Postax...	OMIM:617405
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Campomelic Dysplasia	Low-set ears, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic c...	OMIM:114290
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Downturned corners of mouth, Micrognathia, Limited elbow movement, Thin...	OMIM:300590
Auriculocondylar Syndrome 4	Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Wilson-Turner Syndrome	Small hand, Malar prominence, Micrognathia, Pes cavus, Thin upper lip vermilion, Tapered finger, ...	ORPHA:3459
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Conductive hearing impairment, Delayed eruption of t...	OMIM:300990
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Narrow mouth, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, Short meta...	OMIM:612463
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Acrocraniofacial Dysostosis	Broad thumb, Micrognathia, Genu valgum, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Sensorineural hearing impairment, Thin upper ...	OMIM:607143
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology...	ORPHA:1387
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Glossoptosis, Epiphyseal stippling	OMIM:614876
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Squared iliac bones, Delayed eruption of permanent teeth,...	OMIM:112350
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Low-set, posteriorl...	ORPHA:1597
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal cortices, T...	ORPHA:2463
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Malar flattening, Abnormal palate morphology, Down-sloping shoulders...	ORPHA:1390
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Malar flattening, Short ribs, Lim...	OMIM:269250
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Micrognathia, Joint contracture of the 5th finger, Clinodactyly of...	OMIM:248910
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromel...	ORPHA:85166
Clark-Baraitser syndrome	Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Promin...	OMIM:300602
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Deep philtrum, Large hands, Thick vermilion border, Tapered f...	OMIM:102150
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:559
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Chromosome 1P35 Deletion Syndrome	Hearing impairment, Anterior creases of earlobe, Narrow mouth, Micrognathia, Sensorineural hearin...	OMIM:617930
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin...	OMIM:601356
Osteopetrosis, Autosomal Recessive 6	Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, Dense metaphyseal...	OMIM:611497
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ...	ORPHA:1826
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Hearing impairment, Clinodactyly, Pes planus, Everted lower lip vermilion, High pal...	OMIM:620494
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of the elbow, Sho...	ORPHA:2619
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone, Abn...	ORPHA:1506
Nicolaides-Baraitser Syndrome	High, narrow palate, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphol...	ORPHA:3051
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Macrotia, Gingival overgrowth, Microgn...	ORPHA:2013
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Fractures of the long bones, Equinovarus deformity, Talipes calcaneovarus, ...	ORPHA:319195
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Eng-Strom Syndrome	Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Premature osteoarthritis, Malar flattening, Sensorineural hearing impairmen...	OMIM:184840
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Hand clenching, Retrognathia, Micrognathia, Neonatal death, Talipes equinovarus, Ar...	OMIM:611890
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Cigarette-paper scars, Atrophic scars, Hernia, Talipes equinovarus	OMIM:130010
Smith-Mccort Dysplasia 2	Mandibular prognathia, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlar...	OMIM:615222
Primary Pulmonary Hypoplasia	Low-set ears, Patellar hypoplasia, Micrognathia, Cleft palate	ORPHA:2257
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia,...	ORPHA:261120
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Variant Abeta2M Amyloidosis	Abnormality of the tongue, Abnormal salivary gland morphology, Arthralgia of the hip, Intestinal ...	ORPHA:314652
Anauxetic Dysplasia 1	Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu...	OMIM:607095
Diastrophic Dysplasia	Ulnar deviation of finger, Joint dislocation, Hypoplastic cervical vertebrae, Hearing impairment,...	ORPHA:628
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Talipes equinovarus, Mul...	OMIM:151800
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Talipes equinovarus, Skeletal muscle atrophy	OMIM:613710
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Elbow flexion contracture, Furrowed tongue, Limited k...	OMIM:615065
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Delayed puberty,...	ORPHA:633
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tib...	OMIM:613848
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, High, narrow palate, Bifid uvula, High iliac wing, Conductive hearing impairment, D...	ORPHA:2780
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Ope...	ORPHA:710
Joubert Syndrome 18	Retrognathia, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyl...	OMIM:614815
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ...	ORPHA:2712
Arthrogryposis, Distal, Type 2B3	Overlapping fingers, Talipes equinovarus, Hallux valgus, Adducted thumb, Ulnar deviation of the h...	OMIM:618436
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Catel-Manzke Syndrome	Low-set ears, Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes...	OMIM:616145
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Internally rotated shoulders, Elbow fle...	OMIM:617468
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Limb undergro...	ORPHA:1803
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone, Microtia	ORPHA:221054
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Hearing impairment, Clinodactyly, Recurrent otitis media, Micrognathia, Open mouth,...	OMIM:613604
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Talipes equinovarus, Brachydactyly, Short middle phalanx of finger	OMIM:612626
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Microcornea, Broad thumb, Short thumb, Interphalangeal joint contracture of fing...	OMIM:151200
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Median cleft palate, Aplasia/hypoplasia involving bon...	ORPHA:40366
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Pentasomy X	Small hand, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Radioulnar ...	ORPHA:11
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma...	ORPHA:3236
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Clinodactyly,...	OMIM:305400
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Ne...	OMIM:187601
Coloboma Of Macula And Skeletal Anomalies	Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Contracture...	OMIM:216800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Downturned corners of mouth, Clinodactyly, Low-set, posteriorly rotated ears, Microgn...	ORPHA:254525
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Broad thumb, Short 5th toe, Prominent fingerti...	OMIM:613684
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Genitopatellar Syndrome	Congenital hip dislocation, Malrotation of small bowel, Anal stenosis, Delayed eruption of teeth,...	OMIM:606170
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Omphalocele	ORPHA:85174
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Lower limb asymmetry, Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal femur morp...	ORPHA:2063
Heyn-Sproul-Jackson Syndrome	Short phalanx of finger, Broad phalanx, Sparse hair, Short metacarpal, Broad metacarpals	OMIM:618724
ERI1-related disease	Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Micrognathia, Limited elbow ex...	OMIM:608739
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Microg...	ORPHA:1147
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ...	ORPHA:79113
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Recurrent otitis ...	OMIM:164745
Endocardial Fibroelastosis	Abnormal helix morphology, Sandal gap, Low-set, posteriorly rotated ears, Micrognathia, Abnormal ...	ORPHA:2022
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Slender finger, Small hand, Sandal gap, Broad hallux, Overlapping toe, Micrognathia, Narrow mouth...	OMIM:617755
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft ...	ORPHA:1794
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Retrognathia, Short middle phalanx of finger...	OMIM:618853
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory...	OMIM:602471
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Autosomal Recessive Omodysplasia	Low-set ears, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Micrognathia, ...	ORPHA:93329
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Wormian bones, Brachydactyly	ORPHA:2787
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met...	OMIM:234250
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Malar flattening, Brachydactyly, Split hand, Cranios...	ORPHA:2145
Fibrochondrogenesis 1	Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, ...	OMIM:228520
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Van Bogaert-Hozay Syndrome	Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ...	OMIM:277150
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ab...	ORPHA:93351
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Downturned corners of mouth, Malar flattening, Ectopic anus, Aplasia/Hypop...	ORPHA:94066
16P12.1P12.3 Triplication Syndrome	Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Retrognathia, Dec...	ORPHA:485405
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha...	DECIPHER:46
Keratoconus Posticus Circumscriptus	Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f...	OMIM:244600
Arthrogryposis, Distal, Type 3	Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ...	OMIM:114300
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma...	ORPHA:2521
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Long philtrum, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic li...	ORPHA:163654
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Triphalan...	OMIM:141400
Say Syndrome	Short distal phalanx of finger, Macrotia, Micrognathia, Ulnar deviation of the 3rd finger, Cleft ...	OMIM:181180
Orofaciodigital Syndrome Xv	Low-set ears, Midline notch of upper alveolar ridge, Broad hallux, Duplication of phalanx of hall...	OMIM:617127
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Conductive hearing impairment, Torus palatinus, Thickened...	OMIM:607634
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal hip bone morphology, Hearing abnormality, Hypoplastic inferio...	ORPHA:577
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly	OMIM:614526
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly o...	ORPHA:2635
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Adducted thumb, Brachydactyly, Notched primary central incisor, ...	OMIM:620062
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Ar...	ORPHA:436003
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Micrognathia, Genu valgum, Malar flattening,...	ORPHA:250984
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft, Widely-space...	OMIM:601349
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim...	ORPHA:88630
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hip osteoarthritis, Hypoplasia of the odontoid process, Finger swelling, Ost...	ORPHA:93284
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Hamel Cerebro-Palato-Cardiac Syndrome	Cupped ear, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Arachnodactyly, Cleft...	ORPHA:93946
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Talipes, Hypoplasia of the musculature, Joint contracture	OMIM:225790
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Genu valgum, Cryptorchidism, Cleft palate	OMIM:614880
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Mandibular condyle aplasia, Bifid uvula, Microglossia, Dent...	ORPHA:137888
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Distal amyotrophy, Facial palsy	OMIM:601382
Cree Impaired Intellectual Development Syndrome	Low-set ears, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of...	OMIM:606851
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease	OMIM:218550
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia	ORPHA:2867
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Satb2-Associated Syndrome Due To A Pathogenic Variant	Bifid uvula, Abnormality of the dentition, Broad thumb, Lower limb asymmetry, Celiac disease, Lon...	ORPHA:576283
Cousin Syndrome	Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti...	OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me...	OMIM:210720
Congenital Vertical Talus	Abnormality of the foot musculature, Equinus calcaneus, Pes valgus, Pes planus, Lower extremity j...	ORPHA:178382
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Delayed eruption of teeth, Long philtrum, Thick lower...	OMIM:614607
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Deep palmar crease, Brachydactyly, Genu varum, Clinodac...	OMIM:619451
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Talipes equinovarus, S...	OMIM:211960
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Brachydactyly	ORPHA:1426
Frank-Ter Haar Syndrome	Genu recurvatum, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Gingi...	ORPHA:137834
Zechi-Ceide Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Cleft lip, Conductive he...	ORPHA:217017
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Hand clenching, Congenital knee dislocation, Postnatal growth retardation, Bilateral facial palsy...	ORPHA:319332
Moebius Syndrome	Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hypoplasia of the thumb...	ORPHA:570
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Spastic Paraplegia 55, Autosomal Recessive	Lower limb muscle weakness, Tibialis anterior muscle atrophy, Foot dorsiflexor weakness, Talipes ...	OMIM:615035
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Joint dislocation, Long philtrum, Avascular necrosis of the capital...	ORPHA:502
Pde4D Haploinsufficiency Syndrome	Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short ...	ORPHA:439822
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Sensorineural hearing impairment, Aplasia/Hypopla...	OMIM:617063
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Open...	ORPHA:2097
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Short 4th metacarpal, ...	ORPHA:79445
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Congenital hypothyroidism, Malar flattening, Cryptorchidism, Brachydactyly...	OMIM:614613
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Short philtrum, High palate, Shor...	ORPHA:254531
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ...	OMIM:607326
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Retrognathia, Hypogonadism, Open mouth, Cryptorchid...	OMIM:615547
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Chst3-Related Skeletal Dysplasia	Rhizomelia, Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu ...	ORPHA:263463
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Cooks Syndrome	Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand	ORPHA:1487
Auriculocondylar Syndrome 1	Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,...	OMIM:602483
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic...	ORPHA:763
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft lip, Arachnodactyly, Long toe, Pes planus, Large hands, Cleft palate	OMIM:300263
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Prieto Syndrome	Radial deviation of finger, Clinodactyly, Inguinal hernia, Talipes equinovarus, Patellar subluxat...	OMIM:309610
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly, Downturned corners of mouth	ORPHA:2643
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesis of perman...	OMIM:614091
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Talipes equinovarus, Ascending tubular aorta aneurysm	OMIM:132800
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Bartsocas-Papas Syndrome 2	Low-set ears, Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal ph...	OMIM:619339
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased int...	OMIM:618961
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Everted upper lip vermilion, Gingival overgrowth, Micrognathia, Thin upper lip vermilion, Deep ph...	OMIM:618381
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Aganglionic megacolon, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Epilepsy, Progressive Myoclonic, 9	Microglossia, Short thumb	OMIM:616540
Potocki-Shaffer Syndrome	Downturned corners of mouth, Single transverse palmar crease, Wormian bones, 2-5 finger cutaneous...	OMIM:601224
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Patellar hypoplasia, Low-set, posteriorly rotated ears, Talipes...	ORPHA:3132
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Brachydactyly, Delayed ossification of carpal bones	OMIM:618392
Aniridia And Absent Patella	Aplasia/Hypoplasia of the patella	OMIM:106220
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Long philtrum, Limited knee fle...	OMIM:258315
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ...	ORPHA:321
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner...	ORPHA:1327
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Mandibular prognathia, Sandal gap, Thick lower lip vermilion, Hypogonadism, Decreased...	OMIM:300354
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl...	OMIM:164220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han...	OMIM:263520
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Conductive hea...	ORPHA:3082
Congenital Myopathy 22B, Severe Fetal	Hypoplasia of the musculature, Tapered toe, Shoulder flexion contracture, Elbow flexion contractu...	OMIM:620369
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor...	ORPHA:3121
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Decreased testicular size, Microgn...	ORPHA:251019
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure of eruption of perman...	ORPHA:3238
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Pterygium, Mic...	ORPHA:1865
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Chung-Jansen Syndrome	Long philtrum, Large earlobe, Micrognathia, High palate, Thin vermilion border, Clinodactyly of t...	OMIM:617991
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Cryptorchidism, Abnormal palate morphology, Deep philtr...	ORPHA:2701
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu...	OMIM:600785
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Hip dislocation, Wide anterior fonta...	OMIM:268250
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pes cavus, Abnormality of the Achilles tendon, Talipes equ...	ORPHA:643
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Death in...	OMIM:612938
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Enl...	OMIM:215150
Laron Syndrome	Limb undergrowth, Short long bone, Abnormal joint morphology	OMIM:262500
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Type II diabetes mellitus, Brachydactyly, Anal atresia, Short middle phalanx of finger, Fused cer...	ORPHA:1436
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Short iliac bones, Micromelia, Short ribs, Aplastic pubi...	ORPHA:3003
Achondrogenesis Type 2	Hypoplastic ilia, Hearing impairment, Micromelia, Delayed pubic bone ossification, Short ribs, De...	ORPHA:93296
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat...	OMIM:246560
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Finger syndactyly, Camptodactyly of finger, Low-set, p...	ORPHA:246
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Rudimentary fibula, Lo...	ORPHA:958
Weaver Syndrome	Broad thumb, Finger syndactyly, Long philtrum, Camptodactyly of finger, Low-set, posteriorly rota...	ORPHA:3447
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Type I diabetes mellitus, Abno...	ORPHA:1133
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Long philtrum, Micrognathia, Narrow...	OMIM:618659
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Downturned corners of mouth, Long philtrum, Clinodactyly, Micrognathia, Malar flatt...	OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermili...	ORPHA:357175
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph...	OMIM:222765
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Malar flattening, Shor...	OMIM:215045
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Downturned corners of mouth, Long philtrum, Bilateral single tra...	ORPHA:353298
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinova...	OMIM:611209
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Trip...	ORPHA:2251
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Seckel Syndrome 1	Low-set ears, Ivory epiphyses, Micrognathia, Talipes, Pes planus, Dislocated radial head, High pa...	OMIM:210600
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Deep palmar crease, Abnormal oral frenulum...	ORPHA:1752
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Finger syndactyl...	ORPHA:2994
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Ca...	OMIM:618011
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Thick upper lip vermilion, Micrognathia, Sen...	OMIM:154780
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Low-set ears, Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femor...	OMIM:613320
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, Bilater...	ORPHA:251028
Ruvalcaba Syndrome	Small hand, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short ph...	OMIM:180870
Charcot-Marie-Tooth Disease Type 4A	Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphragm, Quadriceps muscle...	ORPHA:99948
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
6Q25 Microdeletion Syndrome	Long philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar fl...	ORPHA:251056
Achondroplasia	Rhizomelia, Hip joint hypermobility, Hearing impairment, Functional abnormality of the middle ear...	ORPHA:15
X-Linked Intellectual Disability, Seemanova Type	Hypoplasia of the musculature, Skeletal muscle atrophy	ORPHA:85323
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Scoliosis, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Brachydactyly, Osteoarthritis	ORPHA:2762
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Genu valgum, Thin upper lip ver...	ORPHA:1295
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger...	ORPHA:1786
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear, Radioulnar synostosis, Cleft palate	OMIM:302905
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Bifid uvula, Conductive hearing impairment, Prominent fingertip pads, Thick lower l...	OMIM:617412
Aniridia-Absent Patella Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the patella	ORPHA:1069
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness...	OMIM:254940
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Supernumerary nipple, Acetabular spurs, Broad long bone diaphyses,...	OMIM:614376
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of teeth, Abnormal d...	ORPHA:2107
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A...	ORPHA:2753
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irregular acetabula...	OMIM:184252
Autosomal Recessive Amelia	Micrognathia, Acromelia of the lower limbs, Amelia, Orofacial cleft, Non-midline cleft of the upp...	ORPHA:1027
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Absent Achilles reflex, Foot dorsiflex...	OMIM:620011
Auriculoosteodysplasia	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormal...	ORPHA:114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Talipes equinovarus, Peroneal muscle weakness, Calf ...	OMIM:611588
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Clinodactyly of the 2nd finger, Micromelia, Long philtrum, ...	OMIM:618870
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Coffin-Siris Syndrome 6	High, narrow palate, Clinodactyly, Retrognathia, Micrognathia, Wormian bones, Deep philtrum, Brac...	OMIM:617808
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Carious teeth, Central adrenal insufficiency, Hypodontia, Hypogonadotropic...	OMIM:612079
Larsen-Like Syndrome	Dental malocclusion, Joint dislocation, Radial deviation of the 4th finger, Malar flattening, Tal...	OMIM:608545
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Retrognathia, Low-se...	ORPHA:2189
Bardet-Biedl Syndrome 9	Cataract, Postaxial foot polydactyly, Astigmatism, Polydactyly, Postaxial polydactyly, Brachydact...	OMIM:615986
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Malar flattening, Cryptorchidism, Fibular hyp...	ORPHA:3144
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Micrognathi...	ORPHA:93267
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Abnormal diaphysis morphology, Abnormal foot morphology, Abnormalit...	ORPHA:1657
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Sh...	OMIM:620662
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia of the external auditory can...	ORPHA:245
Zechi-Ceide Syndrome	Short distal phalanx of finger, Sandal gap, Cleft upper lip, Long foot, Malar flattening, Oligodo...	OMIM:612916
Nescav Syndrome	Talipes equinovarus, Flexion contracture	OMIM:614255
Intellectual Developmental Disorder, Autosomal Dominant 59	Long philtrum, Short foot, Brachydactyly, Short palm	OMIM:618522
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Brachydactyly, Meta...	OMIM:612813
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Gingival overgrowth, Micrognathia, Malar flattening, Short...	OMIM:614592
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Narro...	ORPHA:96334
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand...	OMIM:258850
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate	ORPHA:2016
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Talipes equinovarus, Bro...	OMIM:616354
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Micrognathia, Malar flattening, Sensorineural hearing impairmen...	OMIM:604841
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion,...	ORPHA:94065
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	ORPHA:101097
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Slender long bone, Flared metaphysis, Dislocated radial head, Camptodactyly of fing...	OMIM:610758
Linear Verrucous Nevus Syndrome	Genu recurvatum, Cataract, Toe syndactyly, Abnormal cornea morphology, Scoliosis, Iris coloboma, ...	ORPHA:2611
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, B...	OMIM:617194
Osteoglosphonic Dysplasia	Rhizomelia, Tooth agenesis, Micrognathia, Cryptorchidism, Multiple unerupted teeth, Brachydactyly...	ORPHA:2645
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon, Short thumb, Type D brachydactyly	OMIM:306980
Central Core Disease	Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con...	ORPHA:597
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped capital femor...	OMIM:300232
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Persistence...	OMIM:265800
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Ulnar bowi...	OMIM:617866
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Talipes equino...	OMIM:616155
Lowry-Wood Syndrome	Shallow acetabular fossae, Squared iliac bones, Multiple joint dislocation, Elbow flexion contrac...	OMIM:226960
Acromelic Frontonasal Dysostosis	Low-set ears, Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preax...	OMIM:603671
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
Kyphomelic Dysplasia	Micromelia, Micrognathia, Missing ribs, Bowing of the long bones, Large hands, Flat acetabular ro...	ORPHA:1801
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of ...	ORPHA:2900
Sprengel Deformity	Neck muscle hypoplasia, Shoulder muscle hypoplasia	OMIM:184400
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Bifid uvula, Conductive hearing impairment, Irregular femo...	OMIM:108300
Codas Syndrome	Congenital hip dislocation, Crumpled ear, Abnormal pelvic girdle bone morphology, Abnormal epiphy...	ORPHA:1458
Roussy-Lévy Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Genu valgum, Pes cavus, I...	ORPHA:3115
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, Beaking of ver...	OMIM:619636
Brachydactyly Type A1	Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hallux, Hypoplasia of the ...	ORPHA:93388
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Pie...	OMIM:117650
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness, Talipes equinovarus, Split h...	OMIM:604563
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Hearing impairment, Bowing of the legs, Mic...	OMIM:613849
Tonne-Kalscheuer Syndrome	Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Decr...	OMIM:300978
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth...	OMIM:612921
Orofaciodigital Syndrome Xvii	Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd...	OMIM:617926
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
8Q22.1 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Finger syndactyly, Long ph...	ORPHA:178303
Craniofrontonasal Dysplasia	Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin...	ORPHA:1520
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Congenital Myopathy 24	Nemaline bodies, Pes cavus, Type 1 muscle fiber predominance, Talipes equinovarus, Scapular wingi...	OMIM:617336
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Tali...	OMIM:134780
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Li...	ORPHA:177
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Astigmatism, Low anterior hairline, Postaxial polydac...	OMIM:615761
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum...	OMIM:604757
Auriculocondylar Syndrome 3	Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o...	OMIM:615706
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Genu valgum, Wide mouth, Duodenal atresia, Short femur, Microtia	OMIM:617798
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Intestinal malrotation, Limited elbow extension and supination, Crypt...	ORPHA:401935
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia...	ORPHA:1248
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Open mouth, Malar flattening, High palate, Cleft palate	OMIM:620021
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Charcot-Marie-Tooth Disease Type 4G	Distal amyotrophy, Distal upper limb muscle weakness, Abnormal foot morphology, Pes cavus, Distal...	ORPHA:99953
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelia, Flared metaphysis, Epiphyseal stippling, Micrognathia, Malar flattening, Sensorineura...	OMIM:215100
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate	OMIM:119540
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Retrognathia, Micrognathia, Brachydactyly, Craniosynostosis, Cleft palate	OMIM:618265
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Short toe, Delayed eruption of teeth, Short finge...	OMIM:103580
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Micrognat...	ORPHA:798
Erythema Of Acral Regions	Talipes equinovarus	OMIM:227000
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Micrognathia, Orofacial cleft, Hal...	ORPHA:1305
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Oligodactyly, Clinodactyly of the 5th finger, Short foot, Umbilical hernia	OMIM:619758
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Abnormal hip bone morphology, Micrognathia, Abnormal lower lip morphology, Protru...	ORPHA:1166
Orofacial Cleft 13	Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia	OMIM:613857
Mietens Syndrome	Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, El...	ORPHA:2557
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Bro...	OMIM:620073
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Cryptorchidism, Broad foot, Talipes, Pes planus, Everted lower lip...	ORPHA:915
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Short distal phalanx of finger, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo...	ORPHA:85167
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Retrognathia, Wide mout...	OMIM:619981
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Abnormal foot morphology	ORPHA:168796
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorten...	OMIM:300863
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Multiple Epiphyseal Dysplasia Type 5	Arthralgia of the hip, Abnormality of the epiphyses of the feet, Abnormal upper limb epiphysis mo...	ORPHA:93311
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Sandal gap, Death in childhood, Death in infancy, Amelogenesis ...	OMIM:617475
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones, Micrognathia,...	OMIM:224400
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis	OMIM:617898
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Broad...	OMIM:612350
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Retr...	OMIM:300882
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebr...	ORPHA:2319
3Mc Syndrome 2	Hypoplasia of the musculature, Postnatal growth retardation, Diastasis recti, Limited elbow movem...	OMIM:265050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognath...	OMIM:210710
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Short 5th finger, Conductive hearing impairment, Atresia of the external auditory ...	OMIM:239800
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c...	ORPHA:50815
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Broad foot, Short ri...	OMIM:250420
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Enlarged joints, Bowing of the legs	ORPHA:156728
Roifman Syndrome	Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epiphysis, Hip contractu...	OMIM:616651
Rothmund-Thomson Syndrome	Abnormality of the dentition, Carious teeth, Aplasia/Hypoplasia of the radius, Delayed eruption o...	ORPHA:2909
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm...	OMIM:618950
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac...	OMIM:255800
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Talipes equinovarus, Narrow il...	OMIM:616716
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Patellar dislocation, Elbow dislocation, Abnormal dental enamel morphology, Macrodontia, Hypoplas...	ORPHA:2916
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Short neck, Flattened epiphysis, En...	OMIM:607131
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Micrognath...	ORPHA:163649
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Cryptorchidism, Death in infancy, Neonatal death, Hypoplasia of the ra...	OMIM:613390
Lambert Syndrome	Talipes equinovarus, Inguinal hernia	OMIM:245550
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Long eyelashes, Thick eyebrow, Generalized hirsutism, Abnormal hair pattern, T...	ORPHA:1514
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Hypopla...	ORPHA:391474
X-Linked Intellectual Disability, Stocco Dos Santos Type	Talipes equinovarus, Congenital bilateral hip dislocation	ORPHA:85288
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the musculature, Ulnar deviation of finger, Camptodactyly of finger, Umbilical hern...	ORPHA:1101
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Talipes equinovarus, Small hand, Short foot, Hip dislocation	OMIM:300434
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Narrow mouth, Short ...	ORPHA:96184
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Downturned corners of mouth, Thin upper lip vermilion, 2-3 toe syndactyly, Clinodac...	OMIM:613443
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent antihelix, Retrognathia, Cleft soft palate, Underdeveloped antitragus, Smooth philtrum,...	ORPHA:293725
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Abnormal metaphysis morphology, Flat capital femoral epiphysis, Flattened epi...	ORPHA:157965
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Talipes equinovarus, Mus...	OMIM:614399
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Hypodontia, Hypoplastic nipples, Hallux valgus, Split...	OMIM:603543
Developmental And Epileptic Encephalopathy 80	Low-set ears, Short distal phalanx of finger, Hearing impairment, Long philtrum, Wide mouth, Tent...	OMIM:618580
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Periodontitis, Brachydactyly	OMIM:266265
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari...	OMIM:608670
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Rocker bottom foot, Joint contracture	OMIM:618266
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Short ribs, Hypoplastic pu...	OMIM:614524
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Sandal gap, Micromelia, Low-set, posteriorly rotated ears, Genu ...	ORPHA:1035
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt...	OMIM:618761
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Thin upper lip vermilion, Uplifted earlobe, Clinodactyly of the 5th finger, Pi...	OMIM:620183
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo...	OMIM:101800
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor...	ORPHA:251014
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Inguinal hernia, Patellar subluxation, Bilateral talipes equinovarus, Osteop...	ORPHA:2958
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus, Facial paralysis, Abnormality of jaw m...	ORPHA:2560
1Q21.1 Microduplication Syndrome	Talipes equinovarus, Arthrogryposis multiplex congenita, Hip dislocation	ORPHA:250994
Hyperparathyroidism, Transient Neonatal	Low-set ears, Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Wide cranial sutures,...	OMIM:618188
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impairment, Dental crowdi...	OMIM:616367
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Long...	OMIM:614813
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Broad ph...	OMIM:166250
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Retrognathia, Avascular necrosis of the capital femoral epiphysis, Micrognathi...	ORPHA:1899
Mosaic Trisomy 14	Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar c...	ORPHA:1703
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Pursed lips, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Hip contra...	OMIM:616266
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Congenital hip dislocation, Shoulder gi...	ORPHA:2020
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the dentition, Velopharyngeal insufficiency, Everted ...	OMIM:182290
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl...	ORPHA:2754
Temtamy Syndrome	Dental crowding, Long philtrum, Micrognathia, Talipes equinovarus, Pes planus, Brachydactyly, Sho...	OMIM:218340
Curry-Jones Syndrome	Iris coloboma, Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, General...	ORPHA:1553
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Cholelithiasis, Diastema, Furrowed ton...	OMIM:300534
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Tarp Syndrome	Low-set ears, Rocker bottom foot, Prominent antihelix, Meckel diverticulum, Clinodactyly, Microgn...	OMIM:311900
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Myhre Syndrome	Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Abnormal epiphysis morphology, Hearing im...	ORPHA:2588
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidism, Talipes equ...	OMIM:612651
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Hypothyr...	ORPHA:1598
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi...	OMIM:609128
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Distal amyotrophy, Split hand	OMIM:607831
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Elevated circulating t...	OMIM:612462
Temple Syndrome	Bifid uvula, Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Short philtrum, High...	OMIM:616222
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Death in infancy, Bowing of the long bones, Abnormal intestine morp...	ORPHA:1318
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Ab...	ORPHA:783
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Elevated circulating parathyroid hormone level, Brachydactyly, Pseudohypoparath...	OMIM:603233
Seckel Syndrome 5	Low-set ears, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia...	OMIM:613823
Cardiocranial Syndrome, Pfeiffer Type	Low-set ears, Bifid uvula, High, narrow palate, Slender finger, Cutaneous syndactyly of toes, Con...	ORPHA:2872
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Femoral bowing, Wormian bones, Hip d...	OMIM:166200
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathi...	OMIM:620444
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Abnormal metacarpal morp...	ORPHA:93262
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Everted lower lip vermilion, Death in infancy, Short finger	OMIM:242500
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Alg6-Cdg	Protein-losing enteropathy, Puberty and gonadal disorders, Shortening of all distal phalanges of ...	ORPHA:79320
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cle...	OMIM:619314
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami, Microtia	OMIM:141300
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Abnormal morpholog...	ORPHA:2167
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the ankle, Oligodontia of primary teeth, Bilateral conductive hearing impairment, ...	ORPHA:2010
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, Short long b...	OMIM:602152
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Mandibular prognathia, Hypoplasia of...	OMIM:616007
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Elevated circulating parath...	OMIM:307800
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Sensorineural hearing impairment, Oro...	ORPHA:79107
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Broad thumb, Intestinal malrotation, Micrognathia, Bilateral cleft palate, Bifid tongue, Clinodac...	ORPHA:2001
Hypoglossia-Hypodactylia	Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Split hand	OMIM:103300
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
3P25.3 Microdeletion Syndrome	High, narrow palate, Pyloric stenosis, Mandibular prognathia, Broad thumb, Broad hallux, Downturn...	ORPHA:435638
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Crisponi/Cold-Induced Sweating Syndrome 1	Low-set ears, Carious teeth, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexi...	OMIM:272430
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta...	OMIM:163400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Clinodactyly of the 5th ...	ORPHA:2759
Melnick-Needles Syndrome	Tooth malposition, Short distal phalanx of finger, Craniofacial hyperostosis, Delayed eruption of...	ORPHA:2484
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial head dislocati...	OMIM:610967
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Kury-Isidor Syndrome	Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Triangular mou...	OMIM:619762
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Palmoplantar keratoderma	ORPHA:2206
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, Neonatal death, 2-3 toe syndactyly, Talipes e...	OMIM:236500
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Dermochondrocorneal Dystrophy	Joint subluxation, Anterior cortical cataract, Irregular tarsal ossification, Subepithelial corne...	OMIM:221800
Stuve-Wiedemann Syndrome 2	Neonatal death, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camp...	OMIM:619751
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Downturned corners of mouth, Ann...	ORPHA:488642
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth...	ORPHA:93352
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Malar flattening, Brachydactyly, High palate, Mand...	ORPHA:2180
Three M Syndrome 3	Slender long bone, Long philtrum, Thick vermilion border, Prominent calcaneus, Hip dysplasia, Cli...	OMIM:614205
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Abnormality of the dentition, Rhizomelia, Mandibular prognathia, Small epiphyses, Genu...	OMIM:271510
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Culler-Jones Syndrome	Ectopic posterior pituitary, Cleft upper lip, Hypogonadism, Hypopituitarism, Cryptorchidism, Post...	OMIM:615849
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Broad hallux, Micrognathia, Sensorineural hearing impairment, Wormian bones, Hip dy...	OMIM:614541
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou...	OMIM:148820
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Diastema, Micrognathia, Malar flattening, Brachydactyly	ORPHA:436245
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bo...	OMIM:608940
Bruck Syndrome 2	Platyspondyly, Elbow flexion contracture, Pterygium, Femoral bowing, Knee flexion contracture, Ta...	OMIM:609220
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop...	ORPHA:95494
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Pes planus, Everted lower lip ve...	ORPHA:192
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum, Sensorine...	OMIM:614134
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Broad femoral neck, Wrist swelling, Nar...	ORPHA:1159
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Brachydactyly, Short long bone	OMIM:615633
Laurence-Moon Syndrome	Finger syndactyly, Type II diabetes mellitus, Bilateral single transverse palmar creases, Cryptor...	ORPHA:2377
Poland Syndrome	Hypoplasia of deltoid muscle, Unilateral oligodactyly, Hemivertebrae, Unilateral brachydactyly, S...	OMIM:173800
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Sen...	ORPHA:193
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Long philtrum, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Cervic...	OMIM:616549
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Hypogonadism, Cryptorchidism, 2-3 toe syndactyly, Talipes equinovarus, Short ...	ORPHA:3306
Cleft Velum	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Recurrent...	ORPHA:99772
Campomelic Dysplasia	Low-set ears, Small abnormally formed scapulae, Hearing impairment, 11 pairs of ribs, Micrognathi...	ORPHA:140
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Short palm, Coxa vara	ORPHA:168555
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Kid Syndrome	Abnormality of the dentition, Prelingual sensorineural hearing impairment, Palmoplantar keratoder...	ORPHA:477
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Image Syndrome	Low-set ears, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Finger syndactyly, Widel...	ORPHA:1071
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Long hallux, Genu valgum, Delayed pubic bone ossification, Pseudo...	OMIM:613330
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism...	ORPHA:3085
Woolly Hair Nevus	Precocious puberty, Widely-spaced incisors, Brachydactyly	ORPHA:79414
C Syndrome	Low-set ears, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly...	OMIM:211750
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ...	OMIM:309350
Cone-Rod Dystrophy 16	Postaxial polydactyly, Cataract	OMIM:614500
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly, Neonatal death	OMIM:610498
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Cutaneous finger syndactyly, 2-4 finger synd...	OMIM:613573
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate	OMIM:619239
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Dental crowding, Sandal gap, Abnormality of the calcane...	ORPHA:813
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Fgfr2-Related Bent Bone Dysplasia	Low-set ears, Abnormality of the outer ear, Incomplete ossification of pubis, Coronal craniosynos...	ORPHA:313855
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Long philtrum, Aplasia/Hypoplasia of the tongue, Micrognathia, Talipes...	ORPHA:1358
Achondrogenesis, Type Ia	Low-set ears, Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metaphysis morpholog...	OMIM:200600
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Delayed eruption of teeth, Long philtrum, Slender...	ORPHA:2616
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Osteopenia, Ulnar deviation of finger, Aortic root aneurysm, Elbow flexio...	OMIM:121050
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Pterygium, Micrognathia, Narrow mouth, Malar flattening, Neonatal death, Bowing of th...	OMIM:224410
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Retrognathia, Long philtrum, Ileus, Micrognathia, Short philtrum, Smooth phi...	OMIM:620156
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion ...	OMIM:618162
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Short ribs, Postaxial polydactyly, Brachydactyly, Hy...	OMIM:617895
Orofaciodigital Syndrome V	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Hearing impairment, Sandal gap, Hamartoma ...	OMIM:174300
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Alg9-Cdg	Rhizomelia, Hypoplasia of the musculature, Flared metaphysis, Talipes equinovarus, Lipodystrophy,...	ORPHA:79328
Nephronophthisis 15	Polydactyly	OMIM:614845
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Scoliosis, Clinodactyly, Syndactyly	OMIM:619091
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Zimmermann-Laband Syndrome	Bifid uvula, Deep plantar creases, Overtubulated long bones, Large fleshy ears, Wide mouth, Micro...	ORPHA:3473
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Elevated circulating parathyroid hormone level, Brac...	OMIM:618618
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Blomstrand Lethal Chondrodysplasia	Low-set ears, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal epiphysis...	ORPHA:50945
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Bilateral single transverse palmar creases, Polycystic ovaries, Brachydactyly, Large...	ORPHA:1770
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Protruding ear, H...	ORPHA:2256
8Q24.3 Microdeletion Syndrome	Branchial cyst, Talipes, Pes planus, Short hallux, Cleft maxillary alveolar ridge, Short 5th fing...	ORPHA:508488
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Micrognathia, Ab...	ORPHA:1702
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of th...	OMIM:609638
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Brachydactyly	OMIM:616459
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Short toe, Hamartoma o...	OMIM:269860
Acrofacial Dysostosis, Palagonia Type	Low-set ears, High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Micrognat...	ORPHA:1787
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, High palate, S...	OMIM:271665
Burn-Mckeown Syndrome	Bifid uvula, Conductive hearing impairment, Hearing impairment, Cleft upper lip, Micrognathia, Na...	OMIM:608572
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Proximal femoral epiphysiolysis, Overlapping toe, Small epiphyses, Tented upper lip...	OMIM:616723
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl...	ORPHA:1110
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Cryptorchidism, Arachnodactyly...	ORPHA:536532
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Bilateral talipes equinovarus	OMIM:616486
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Brachydactyly, Mandibular prognathia, Mesomelia	ORPHA:171866
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, Tooth agenesis,...	OMIM:616229
Raine Syndrome	Low-set ears, Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal d...	OMIM:259775
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Hearing impairme...	OMIM:600383
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Single transverse palmar ...	OMIM:617061
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidism, Polydactyly, Talipes, Hi...	ORPHA:531151
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Aplasia/H...	ORPHA:96097
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Delayed eruption o...	OMIM:277440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P...	OMIM:618727
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu...	ORPHA:2912
Septooptic Dysplasia	Short finger, Decreased response to growth hormone stimulation test, Polydactyly, Anterior pituit...	OMIM:182230
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
X-Linked Acrogigantism	Pituitary adenoma, Diastema, Increased circulating prolactin concentration, Hypopituitarism, Fast...	ORPHA:300373
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Micrognathia, Tibial bowing, Abnormality of the lower limb...	ORPHA:3035
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Malar prominence, Micrognathia, Arachnodactyly, ...	ORPHA:2824
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op...	ORPHA:1507
Rin2 Syndrome	Long philtrum, Abnormal lip morphology, Gingival overgrowth, Irregular dentition, Cryptorchidism,...	ORPHA:217335
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus, Limb hypertonia, Lower limb amyotrophy	ORPHA:401815
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Rudiger Syndrome	Death in infancy, Ovarian cyst, Single transverse palmar crease, Short digit, High axial triradius	OMIM:268650
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t...	OMIM:311200
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Osteopenia, Skeletal m...	ORPHA:2671
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Brachydactyly, Abnormal testis morphology, Diabetes mellitus,...	ORPHA:317
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Narrow mouth, Micrognathia, Cubitu...	OMIM:620072
Distal Monosomy 7Q36	Micrognathia, Bilateral single transverse palmar creases, Cryptorchidism, Symphalangism affecting...	ORPHA:1636
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Long philtrum, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, ...	ORPHA:562528
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular bones of th...	ORPHA:85184
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Hearing impair...	OMIM:601596
Brittle Cornea Syndrome 1	Congenital hip dislocation, Keratoconus, Abnormal cornea morphology, Spondylolisthesis, Palmoplan...	OMIM:229200
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Single transverse palmar crease, Ma...	OMIM:610253
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Prominent crus of helix, Genu valgum, Hip contracture, Sensorineural hearing impair...	OMIM:619194
Keutel Syndrome	Short distal phalanx of finger, Hearing impairment, Recurrent otitis media, Calcification of cart...	ORPHA:85202
Genitopalatocardiac Syndrome	Downturned corners of mouth, Micrognathia, Cryptorchidism, Brachydactyly, Postaxial hand polydact...	ORPHA:2075
Orofaciodigital Syndrome Type 3	Low-set ears, Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of...	ORPHA:2752
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High palate, Tarsal synostosis, Acc...	ORPHA:2750
4Q21 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Small hand, Toe syndactyly, Hearing impairment, Downt...	ORPHA:238750
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Narrow palm, Fused thoracic vertebrae, Scoliosi...	ORPHA:1445
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Clinodactyly, Esophagitis, Narrow mouth, Micrognathia, Cryptorchidism, Synd...	ORPHA:96182
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Oligodontia, H...	OMIM:619184
48,Xxyy Syndrome	Broad jaw, Carious teeth, Elbow dislocation, Delayed eruption of teeth, Thick lower lip vermilion...	ORPHA:10
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus, Limb hypertonia	ORPHA:401795
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Dislocated radial head, High...	OMIM:135900
Loeys-Dietz Syndrome 5	Bifid uvula, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinoph...	OMIM:615582
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Neonatal death, Cleft palate	OMIM:615524
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Micrognathia,...	OMIM:600920
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ul...	ORPHA:2491
Dysosteosclerosis	Short diaphyses, Natal tooth, Delayed eruption of teeth, Hearing impairment, Absent paranasal sin...	OMIM:224300
Marshall-Smith Syndrome	Conductive hearing impairment, Slender long bone, Retrognathia, Gingival overgrowth, Open mouth, ...	ORPHA:561
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Retrognathia, Large fleshy ears, Micrognathia, Smooth philtrum, Narrow greater scia...	OMIM:263210
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn...	ORPHA:239
Distal Deletion 10P	Micrognathia, Bilateral single transverse palmar creases, Cryptorchidism, Polycystic ovaries, Ect...	ORPHA:1580
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Hydrolethalus Syndrome 1	Low-set ears, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Median...	OMIM:236680
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Hearing impairment, Slender long bone, Micrognathia, Tibial bowing, Wo...	OMIM:259420
Dominant Beta-Thalassemia	Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum	ORPHA:231226
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Glossoptosis, Cleft palate, Hyperextensibility of the finger joints	OMIM:618356
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Pes cavus, Talipes equinovarus, Scapular winging, Fle...	OMIM:255200
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Masa Syndrome	Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal pha...	ORPHA:364577
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Conical tooth, Cupped ear, Conductive hearing impairmen...	OMIM:263750
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Absent hand, Ameli...	ORPHA:2538
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Pes planus, Everted lower...	OMIM:620450
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Bilateral single transverse palmar ...	ORPHA:236
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Hemiverteb...	OMIM:212780
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog...	ORPHA:1422
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathi...	OMIM:257850
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Narrow mouth,...	ORPHA:95699
Benign Schwannoma	Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the adrenal glands, Abnormal ...	ORPHA:252164
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Orofacial cleft, Brachydactyly, Short long bone, Postaxial hand polydact...	OMIM:615630
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgum, Prominent metopic rid...	OMIM:619721
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit	ORPHA:228190
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Long philtrum, Hypoplasia of the zygomatic bone, Single tra...	OMIM:614800
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Postaxial hand polydactyly, ...	OMIM:614120
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture...	ORPHA:93315
Jansen-De Vries Syndrome	Small hand, Thin upper lip vermilion, Brachydactyly, Short foot, Wide mouth	OMIM:617450
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil...	OMIM:616894
Corneodermatoosseous Syndrome	Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis, Abnormali...	ORPHA:3194
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Micrognathia, Cryptor...	ORPHA:2363
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Joint dislo...	ORPHA:1842
Gorham-Stout Disease	Abnormal facial skeleton morphology, Hearing impairment, Abnormality of the temporomandibular joi...	ORPHA:73
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio...	ORPHA:313781
Smith-Magenis Syndrome	Precocious puberty, Toe syndactyly, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip v...	ORPHA:819
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Small hand, Cleft lip, Sandal gap, Clinodactyly, Downturned corners of mouth, Long p...	OMIM:618089
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Malar flattening, Short ribs, Stillbirth	OMIM:600972
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly, Hypergonadotropic hypogonadism	ORPHA:2850
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Micrognathia, Cryptorchidism, Brachydactyly, Camptodactyly, Clinodactyly of the 5th fi...	OMIM:619123
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Dental malocclusion, Open bite, Abnormal dental morpholog...	ORPHA:3079
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Retrognathia, Cubitus valgus, Brachydactyly, Clinodactyly of the 5th finger, H...	OMIM:620237
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Upper limb asymmetry,...	ORPHA:231140
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Do...	ORPHA:404440
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Narrow...	ORPHA:2115
Acrorenal-Mandibular Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture...	OMIM:200980
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Conductive hearing impairment, Abnormal metaphysis morphology	ORPHA:1861
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	OMIM:264700
Spastic Paraplegia 47, Autosomal Recessive	Genu recurvatum, Acetabular dysplasia, Talipes equinovarus, Pes planus, Flexion contracture	OMIM:614066
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dystrophy, Syndactyly	OMIM:226700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Down-sl...	ORPHA:392
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca...	ORPHA:1488
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy, Hip dislocation, Abnormal foot morphology	OMIM:614678
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Low-set, posteriorly ro...	ORPHA:83
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Talipes equinovarus, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Short palm	ORPHA:85172
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb und...	ORPHA:453510
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Micrognathia, Neonatal death, Talipes, Diaphyseal unde...	OMIM:215140
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:602196
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Mandibular prognathia, Delayed eruption of permanent teeth, Co...	ORPHA:521445
Ring Chromosome 10 Syndrome	Low-set ears, Sandal gap, Long philtrum, Large earlobe, Micrognathia, Abnormal antihelix morpholo...	ORPHA:1438
Short Syndrome	Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma...	ORPHA:3163
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Retrognathia, Long philtrum, Hypogonadism, De...	OMIM:612513
Joubert Syndrome 10	Postaxial foot polydactyly, Deep philtrum, Brachydactyly, Thick vermilion border, Postaxial hand ...	OMIM:300804
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Microgn...	OMIM:610759
Radio-Renal Syndrome	High, narrow palate, Micromelia, Downturned corners of mouth, Retrognathia, Micrognathia, Hypopla...	ORPHA:3015
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, 2-3 toe syndactyly...	ORPHA:313892
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Recurrent otitis media, Submucous cleft hard palate, Thin upper lip ...	OMIM:619680
Short Stature-Micrognathia Syndrome	Rhizomelia, Broad femoral neck, Retrognathia, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, M...	OMIM:617164
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Synophrys	ORPHA:261272
Trisomy 13	Low-set ears, High, narrow palate, Abnormal helix morphology, Abnormality of the dentition, Abnor...	ORPHA:3378
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Macroglossia, Epiphyseal stippling, Brachydactyly	ORPHA:1914
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Absen...	ORPHA:2890
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis...	OMIM:166220
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, High, narrow palate, Small hand, Cupped ear, Prominent fingertip pads, Long philtru...	OMIM:612863
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor...	OMIM:609192
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Hypo...	ORPHA:2637
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Cleft palate	OMIM:614838
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Knee flexion contracture, Talipes equinovarus, Distal arthrogryposis, C...	OMIM:618198
3C Syndrome	High, narrow palate, Finger syndactyly, Intestinal malrotation, Abnormal hip bone morphology, Mic...	ORPHA:7
Neuropathy, Congenital, With Arthrogryposis Multiplex	Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs	OMIM:162370
Aase-Smith Syndrome I	Slender finger, Open mouth, Death in infancy, Talipes equinovarus, Abnormal pinna morphology, Cle...	OMIM:147800
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Long philtrum, Abnormality of the anterior pituitary, Everted lower lip vermilion, Postaxial hand...	ORPHA:75389
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Brachydactyly, Hip d...	ORPHA:2655
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me...	OMIM:600705
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Mandibular prognathia, Broad thumb, Prominent fingertip pads, Prominent crus of hel...	OMIM:617804
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifi...	ORPHA:2769
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Short clavicles, ...	ORPHA:370930
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Cleft upper lip, Accessory carpal bones, Knee ...	OMIM:150250
Seckel Syndrome 2	Micrognathia, Clinodactyly of the 5th finger, Microglossia, Microdontia	OMIM:606744
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Finger syndactyly, Clinodactyly, Overlapping toe, Overlapping fingers, E...	ORPHA:464738
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Pes planus, Everted lower...	ORPHA:177907
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Cleft palate	OMIM:614261
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Short ribs, Metaphyseal widening, Narrow pelvis bone	OMIM:187760
Desmosterolosis	Low-set ears, Bifid uvula, Micromelia, Abnormal earlobe morphology, Retrognathia, Low-set, poster...	ORPHA:35107
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Humerus varus, Esophagitis, Genu valgum, Pe...	ORPHA:198
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Short distal phalanx of finger, Decreased serum estradiol, Dental malocclusion, Abno...	ORPHA:2959
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas...	OMIM:617425
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Broad thumb, Clinodactyly, Hyperplasia of the maxilla, Long hallux, Micrognathia, Hallux valgus, ...	OMIM:620194
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deviation of finger, Inguinal hernia, Arachnodactyly, Congenital finger flexion contractures, Bil...	ORPHA:1154
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Mandibular prognathia, Slender long bone, Long philtrum, Diastema, Retrognathia, Ma...	OMIM:212066
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Brac...	ORPHA:1824
Joubert Syndrome 24	Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:616654
Beta-Thalassemia Major	Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum	ORPHA:231214
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelvis, Early ossifica...	OMIM:208500
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Malar flattening, Hypothyroidism, Short fourth metatarsal, Short...	OMIM:600430
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal femur morphology, Abnormali...	ORPHA:3130
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Micrognathia, Cryptorchidism, ...	OMIM:217980
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle...	OMIM:616738
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delayed eruption of...	OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Low-set ears, Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndacty...	OMIM:225060
17Q24.2 Microdeletion Syndrome	Tooth malposition, Otosclerosis, Broad thumb, Abnormality of the ankle, Upper limb undergrowth, R...	ORPHA:529962
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas...	ORPHA:2746
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Talipes equinovarus, Large h...	OMIM:264090
Charcot-Marie-Tooth Disease Type 1E	Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hyporeflexia of u...	ORPHA:90658
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Alope...	ORPHA:1234
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal dental morphology, Abnormal hip bone morphology, Micrognathia, Malar promi...	ORPHA:2522
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Absence of Stensen duct, Hypoplasia of...	OMIM:604292
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus, Hypomimic face	OMIM:260300
Radio-Tartaglia Syndrome	High, narrow palate, Precocious puberty, Dental crowding, Retrognathia, Long philtrum, Micrognath...	OMIM:619312
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th...	ORPHA:2636
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Micrognath...	OMIM:263650
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiph...	ORPHA:90653
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Micrognathia, Short philtrum, Cleft palate	ORPHA:3305
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ankyloglossia, Death in infancy, Brachydactyly	OMIM:602361
Ane Syndrome	Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ...	ORPHA:157954
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes planus, Hypoplasia of the ulna,...	OMIM:618395
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p...	OMIM:618469
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Radial deviation of finger, Clinodactyly, Pyloric stenosis	OMIM:188025
Mandibuloacral Dysplasia	Dental crowding, Insulin-resistant diabetes mellitus, Abnormal tongue morphology, Delayed cranial...	ORPHA:2457
Kinsship Syndrome	Low-set ears, Mandibular prognathia, Downturned corners of mouth, Thick lower lip vermilion, Wide...	OMIM:619297
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly...	OMIM:611561
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Overlapping fingers, Femoral bowing, Micrognathia, Talipes equinova...	OMIM:617022
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Skeletal muscle atrophy, Overlapping fingers, Multipl...	OMIM:618291
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Downturned corners of mouth, Carpal osteolysis,...	ORPHA:2774
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Cryptorchidism, Thin uppe...	ORPHA:457193
Ohdo Syndrome, Sbbys Variant	Low-set ears, Hearing impairment, Long hallux, Micrognathia, Long thumb, Microdontia, Thin upper ...	OMIM:603736
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Delayed cranial suture closure, Open b...	ORPHA:794
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Wormian bones, Limb unde...	OMIM:166210
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Pes cavus, Ankle clonus, Brachydactyly, Ulnar deviation of the hand, Camptodactyly,...	OMIM:275900
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod...	OMIM:300373
Distal Deletion 10Q	Clinodactyly, Micrognathia, Pes planus, High palate, Anal atresia, Hip dislocation, Prominent fin...	ORPHA:96148
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Pes cavus, Facial diplegia, Type 1 muscle fiber predo...	ORPHA:169186
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Achondrogenesis Type 1B	Abnormal enchondral ossification, Micromelia, Umbilical hernia, Talipes equinovarus, Femoral hern...	ORPHA:93298
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus, Generalized limb muscle atrophy	ORPHA:466794
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi...	ORPHA:2710
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Cubitus valgus, Brachydactyly, Increased serum testosterone level, Shor...	ORPHA:247768
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Anteriorly placed anus, Talipes equinovarus, Enamel hypoplasia, Everted...	OMIM:619980
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow ...	ORPHA:2021
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Supernumerary nipple,...	ORPHA:1001
Cleft Lip/Palate	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma...	ORPHA:199306
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, Absent gallbladder, Thin u...	OMIM:300712
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Flared metaphysis, Thicke...	OMIM:620558
Glass Syndrome	Low-set ears, Conical tooth, Dental crowding, Long philtrum, Gingival overgrowth, Narrow mouth, M...	OMIM:612313
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Thickened...	OMIM:253250
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ...	OMIM:254090
Charcot-Marie-Tooth Disease, Type 4B3	Scoliosis, Syndactyly	OMIM:615284
Pontocerebellar Hypoplasia, Type 1A	Distal amyotrophy, Congenital contracture, Abnormal foot morphology, Spinal muscular atrophy, Tal...	OMIM:607596
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Joint contracture of...	OMIM:618914
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Nephrotic Syndrome, Type 11	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly, Smoo...	OMIM:616730
Trisomy 12P	Low-set ears, Downturned corners of mouth, Micrognathia, Abnormal antihelix morphology, Malar fla...	ORPHA:1699
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Pes ...	ORPHA:93932
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ...	ORPHA:94089
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Long philtrum, Widely spaced teeth, Trident pelvis, Short lingual frenulum...	OMIM:619479
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Diamond-Blackfan Anemia 6	Bifid uvula, Short thumb, Cleft upper lip, Retrognathia, Micrognathia, Triphalangeal thumb, Cleft...	OMIM:612561
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Ulnar bowing, D...	OMIM:619135
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ...	OMIM:259450
Joubert Syndrome 23	Polydactyly	OMIM:616490
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Microdontia, Thin upper lip vermilion, Br...	OMIM:618027
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
19P13.3 Microduplication Syndrome	Precocious puberty, Clinodactyly, Thick vermilion border, Narrow mouth, Micrognathia, Pes cavus, ...	ORPHA:447980
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Abnormal earlobe morphology, Tooth agenesis, Abnormal dental e...	ORPHA:808
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Talipes equinovarus, Hip dislocation	OMIM:616756
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Gingival bleeding, Short toe, Recurrent mandibular subluxations, Gingival overgrowt...	OMIM:225410
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased muscle mass, Pes cavus, Knee flexion contracture, Intrinsic hand muscle atrophy, Talipe...	OMIM:615490
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Micrognathia,...	ORPHA:1486
Wrinkly Skin Syndrome	Congenital hip dislocation, Hypoplasia of the musculature, Osteopenia, Deep plantar creases, Umbi...	OMIM:278250
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Atrophic scars, Facial hypotonia, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Adducted ...	OMIM:615539
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Long philtrum, Thin upper lip vermilion, Hypothyroid...	OMIM:617763
Tetraamelia Syndrome 2	Low-set ears, Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Glosso...	OMIM:618021
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Autosomal Dominant Robinow Syndrome	Low-set ears, Hearing impairment, Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, ...	ORPHA:3107
Walker-Warburg Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:899
Macs Syndrome	Eclabion, Long philtrum, Recurrent aphthous stomatitis, Gingival overgrowth, Micrognathia, Irregu...	OMIM:613075
Tarp Syndrome	Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro...	OMIM:617746
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Vertebral segmentation defect, Split hand, Phocomelia	ORPHA:3004
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Absence of Stensen duct, Anal atresia,...	OMIM:129900
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resistance to thyroid hormon...	ORPHA:79444
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Macroglossia, Broad thumb, Hearing impairment, Sandal gap, Hamartoma of tongue, ...	OMIM:619775
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Esophageal varix, Syndactyly	OMIM:616589
Native American Myopathy	Bifid uvula, Conductive hearing impairment, Downturned corners of mouth, Micrognathia, Submucous ...	ORPHA:168572
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Delayed cranial suture closure, Micr...	ORPHA:235
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Polydactyly, Sensorineural hearing impairment, Orofacial cleft, Short femur	ORPHA:17
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormal dental en...	ORPHA:1005
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndactyly, Micrognathia, ...	OMIM:601390
Aminopterin/Methotrexate Embryofetopathy	Mesomelia, Finger syndactyly, Micromelia, Low-set, posteriorly rotated ears, Micrognathia, Talipe...	ORPHA:1908
Perrault Syndrome 1	Osteoporosis, Talipes equinovarus, Pes cavus	OMIM:233400
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:600081
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Hemiatrophy, Stippl...	OMIM:302960
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:610536
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Long philtrum, Breast hypoplasia, Narrow mouth, Malar flattening, Cryptorchi...	OMIM:601353
Osteogenesis Imperfecta, Type Xiv	Femoral bowing, Scoliosis	OMIM:615066
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Talipes equinovarus, Clinodactyly of the 5th finger, Postnatal growth retardation, Tapered finger	OMIM:617219
Chitayat Syndrome	Hallux valgus, Brachydactyly, Thick vermilion border	OMIM:617180
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases, Cryptorchidism...	ORPHA:2083
Robinow Syndrome	Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Cryp...	ORPHA:97360
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis, Non-midline cleft of the upper li...	ORPHA:2117
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Sensorineural hearing i...	ORPHA:261330
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, Micrognathia, Postaxial polydact...	OMIM:614099
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Pes cavus, Limited elbow movement, Cam...	OMIM:300280
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Velopharyngeal insufficiency, Atresia of the external auditory cana...	OMIM:154400
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eru...	OMIM:149730
Limb-Mammary Syndrome	Bifid uvula, Cleft lip, Toe syndactyly, Oligodactyly, Malar flattening, Submucous cleft soft pala...	ORPHA:69085
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Missing ribs, Adrenal hypopl...	OMIM:220210
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Clinodactyly, Long philtrum, Talipes equinovarus, Broad philtrum, Deep philtrum,...	ORPHA:397709
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti...	OMIM:187600
Galloway-Mowat Syndrome 7	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa...	OMIM:618348
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Micrognathia, Cryptorchidism, Polydactyly, Hypothyroidism, Clinod...	ORPHA:397590
Kabuki Syndrome 2	Low-set ears, Short 5th finger, Cupped ear, Hearing impairment, Natal tooth, Dental malocclusion,...	OMIM:300867
Osteogenesis Imperfecta, Type Xviii	Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Wormian bon...	OMIM:617952
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Van Maldergem Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Cutaneous finger syndac...	OMIM:615546
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Delayed cranial suture closure, Cryptorchidism, Abnormal metacarpal morphology...	ORPHA:2658
Geroderma Osteodysplasticum	Platyspondyly, Abnormal hair morphology, Femoral bowing, Tibial bowing, Biconcave vertebral bodie...	OMIM:231070
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement...	ORPHA:221120
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short palm, Tapered finger	ORPHA:85279
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Equinovarus deformity, Micrognathia, Triphalangeal thumb, Rocker bott...	ORPHA:3078
Trisomy 20P	Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi...	ORPHA:261318
Orthostatic Hypotension 1	High palate, Brachydactyly, Reduced circulating prolactin concentration	OMIM:223360
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Metaphyseal cupping, Hearing impairment, Micrognathia, Hip contracture, Knee f...	OMIM:156400
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Scoliosis, Postaxial hand polydactyly	OMIM:611560
Tibial Hemimelia	Absent tibia	OMIM:275220
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, High palate, Cryptorchidism, Aganglionic megacolon...	ORPHA:2473
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Stenosi...	OMIM:207410
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Absent earlobe, Widel...	ORPHA:3455
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,...	OMIM:615994
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal ma...	ORPHA:93259
Agnathia-Otocephaly Complex	Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Micrognathia, Narrow mouth, ...	OMIM:202650
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Joint dislocation, Cleft upper lip, Short finger, Micrognathia, Multiple pterygia, ...	OMIM:312150
Weill-Marchesani Syndrome	Brachydactyly, Short thumb	ORPHA:3449
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Metaph...	OMIM:250410
Hypoglossia With Situs Inversus	Low-set ears, Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate	OMIM:612776
Diaphanospondylodysostosis	Narrow pelvis bone, Missing ribs, Cleft palate, Abnormal vertebral segmentation and fusion	ORPHA:66637
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino...	OMIM:271640
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus, Skeletal muscle atrophy, Joint contracture	OMIM:617481
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple,...	ORPHA:3224
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Absent patellar reflexes, Micromelia, Smooth tongue, Camptodactyly ...	ORPHA:3206
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Cleft upper lip, Ectrodactyly, Tooth agenesis, Cryptorchidism, Hypogonadotropic hyp...	OMIM:147950
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
48,Xxxy Syndrome	Mandibular prognathia, Carious teeth, Abnormal epiphysis morphology, Elbow dislocation, Delayed e...	ORPHA:96263
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Malar flattening, Brachydactyly, Clinodactyly of the 5th finger, Wide mouth, Short...	ORPHA:1292
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Sclerocornea, Iris coloboma...	ORPHA:139471
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Dental crowding, Clinodactyly, Downturned corners of mouth, Thick lower lip vermil...	ORPHA:261323
Distal Deletion 6P	Low-set ears, Abnormality of the dentition, Abnormal epiphysis morphology, Hearing impairment, Do...	ORPHA:96125
Freeman-Sheldon Syndrome	Ulnar deviation of finger, Camptodactyly of finger, Hernia, Talipes equinovarus, Absent palmar cr...	ORPHA:2053
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, Hearing impairmen...	OMIM:269500
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa...	ORPHA:64744
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Thoracic kyphosis, Clinodactyly, Syndactyly	OMIM:619092
Saethre-Chotzen Syndrome	Low-set ears, Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynos...	OMIM:101400
Bruck Syndrome	Bowing of the long bones, Talipes equinovarus, Arthrogryposis multiplex congenita, Osteoporosis	ORPHA:2771
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Abnormal thumb morphology, Smooth philtrum, Everted lower lip vermilion, Overf...	ORPHA:324410
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus, Skeletal muscle atrophy	OMIM:616719
Brachyolmia Type 3	Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of finger, Clinod...	OMIM:113500
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Microcephalic osteodysplastic primordial dwarfism, type III	Ulnar deviation of finger, Slender long bone, Delayed cranial suture closure, Thick upper lip ver...	OMIM:210730
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Th...	ORPHA:1920
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Arach...	ORPHA:828
Chromosome 6Q11-Q14 Deletion Syndrome	Umbilical hernia, Pes cavus, Inguinal hernia, Single transverse palmar crease, Talipes equinovaru...	OMIM:613544
Houge-Janssens Syndrome 2	Abnormal hair whorl, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip dyspla...	OMIM:616362
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long philtrum, Open bite, Micrognathia, Down-sloping shoulders, Deep philtrum,...	ORPHA:1974
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Dental crowding, Sandal gap, Joint dislocation, Recurrent shoulder dislocation, ...	ORPHA:230851
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Wide distal femoral metaphysis, Long eyelashes, Femoral bowing, Wide pubic symphys...	OMIM:614856
Distal Duplication 17Q	Rhizomelia, Low-set, posteriorly rotated ears, Overlapping toe, Micrognathia, Genu valgum, Pes ca...	ORPHA:3379
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Cryptorchidism, Metaphyseal chondrodysplasia, Hallux valgus, Pes planus, Brachydact...	ORPHA:166035
Infantile Systemic Hyalinosis	Micromelia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Abnormal dental morphology...	ORPHA:2176
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate	ORPHA:2476
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, Cleft upper lip, Tented upper lip vermil...	OMIM:600987
Joubert Syndrome 33	Syndactyly	OMIM:617767
Hamamy Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Everted lower lip vermilion, High p...	OMIM:611174
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Apla...	ORPHA:959
Dystonia, Dopa-Responsive	Talipes equinovarus, Pes cavus, Torticollis	OMIM:128230
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Long eyelashes, Thick eyebrow, ...	ORPHA:1517
Czeizel-Losonci Syndrome	Hypoplastic helices, 1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Low-set, posteriorly ...	ORPHA:2437
Joubert Syndrome 16	Polydactyly	OMIM:614465
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Downturned c...	ORPHA:1299
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Flared metaphysis, Aplasia/Hypoplasia of the middle p...	OMIM:151050
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Microretrognathia, Death in infancy, Talipes equinovarus, Short d...	OMIM:615789
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Neonatal death	OMIM:245650
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Conductive hearing impairment, Atresia of the...	OMIM:608257
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow co...	OMIM:617201
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Retrognathia, Furrowed tongue, Tented upper lip vermilion, 2-3 toe syndactyly, Ever...	OMIM:616449
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Conductive hearing impairment, Delayed er...	ORPHA:87
Gapo Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Delayed eruption of ...	ORPHA:2067
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Limb undergrowth, Brachydactyly, Thi...	OMIM:617809
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Broad secondary al...	ORPHA:3472
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Hyperparathyroidism, Coarse metaphyseal trabecularization, Joint di...	ORPHA:93160
Cystathioninuria	Talipes equinovarus	ORPHA:212
Bardet-Biedl Syndrome 1	High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Abn...	OMIM:209900
Holt-Oram Syndrome	Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn...	OMIM:142900
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Talipes equinovarus	OMIM:209770
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S...	OMIM:604320
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Bowing of the long bo...	ORPHA:2050
Intellectual Developmental Disorder, Autosomal Recessive 61	Prominent fingertip pads, Decreased muscle mass, Pes cavus, Talipes equinovarus, Long fingers, Ta...	OMIM:617773
Moderate Hemophilia A	Gingival bleeding, Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage destruction...	ORPHA:169805
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Brachydactyly, Bilateral single transverse p...	ORPHA:1581
Cowden Syndrome 5	Colonic diverticula, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Microgn...	OMIM:615108
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Low-set ears, 2-3 toe cutaneous syndactyly, Retrognathia, Micrognathia, Narrow mouth, Down-slopin...	OMIM:301091
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Macrotia...	ORPHA:175
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Co...	ORPHA:1765
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Bile duct proliferation, Cle...	OMIM:607361
Basal Cell Nevus Syndrome 1	Palmar pits, Hamartomatous stomach polyps, Short distal phalanx of the thumb, Plantar pits, Cleft...	OMIM:109400
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Deep plantar creases, Retrognathia...	OMIM:616580
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Abnormality of the middle ear, High palate, Rectovaginal f...	ORPHA:861
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Unilateral cleft palate, Pes pla...	OMIM:619122
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Cleft upper lip, Acetabular d...	OMIM:201180
Martsolf Syndrome 1	Cataract, Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis of the ...	OMIM:212720
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Talipes equinovarus	OMIM:616171
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle...	ORPHA:319675
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Increased carrying angle, Brachydactyly	OMIM:247410
Meckel Syndrome, Type 2	Intestinal malrotation, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Bile d...	OMIM:603194
Craniofrontonasal Syndrome	Axillary pterygium, Abnormality of the dentition, Coronal craniosynostosis, Toe syndactyly, 3-4 f...	OMIM:304110
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca...	OMIM:169400
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Hypoplasia of the odontoid process, Delayed pubic bone ossification, Malar flattenin...	OMIM:183900
Marshall-Smith Syndrome	Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin...	OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Dilated third ventricle, Small cervical vertebral bodies, Supernumerary ni...	ORPHA:397715
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Limb undergrowth, Long fing...	OMIM:608149
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Brachydactyly, Pes valgus, Ankle clonus	OMIM:619995
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Lip pit, Popliteal pterygium, Micrognathia...	ORPHA:1300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Aplasia/Hypoplasia of the ...	ORPHA:1352
Al-Gazali Syndrome	Broad distal phalanx of finger, Wrist flexion contracture, Bowed humerus, Sclerocornea, Corneal o...	OMIM:609465
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Radioulnar synosto...	OMIM:130070
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Short distal phalanx of finger, Hypothyroidism, Brachydactyly	ORPHA:1563
Intellectual Developmental Disorder, Autosomal Dominant 29	Low-set ears, Narrow palate, Dental crowding, Hearing impairment, Long philtrum, Sandal gap, Broa...	OMIM:616078
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly	OMIM:602501
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Thick lower lip vermilion, Small epip...	OMIM:610442
Flat Face-Microstomia-Ear Anomaly Syndrome	Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal oral mucosa morphology, Downtur...	ORPHA:1968
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Iris coloboma, Fused cervical ...	OMIM:607323
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pes planus, Calcaneovalgus deformity	OMIM:225320
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Pes planus, Finger joint hypermob...	OMIM:244200
Congenital Disorder Of Glycosylation, Type Iih	Clinodactyly of the 3rd toe, Finger clinodactyly, Talipes equinovarus, Bilateral coxa valga, Clin...	OMIM:611182
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Widow's peak, Sacral dimple, Syndactyly	OMIM:239710
Cartilage-Hair Hypoplasia	Sparse hair, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Sparse eyebrow, Fair ha...	OMIM:250250
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Cleft up...	OMIM:308050
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po...	OMIM:614175
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Gingival overgrowth, Micrognathia, Abnormal intestine mor...	ORPHA:1834
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Camptodactyly	OMIM:264180
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Abnormal tibia morphology, Abnormality of the sphenoid sinu...	ORPHA:249
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Tapered finger, Hypogeusia, Hamartomatous ...	ORPHA:2930
Cerebrocostomandibular Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Death in inf...	ORPHA:1393
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Talipes e...	ORPHA:3027
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture...	ORPHA:457279
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Short ...	OMIM:607597
Joubert Syndrome 27	Polydactyly	OMIM:617120
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Meckel Syndrome, Type 8	Talipes equinovarus, Short neck, Polydactyly	OMIM:613885
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Widely spaced teeth, Gingi...	OMIM:618143
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cleft lip, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty,...	OMIM:612702
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Short 1st metacarpal, Annular pa...	ORPHA:264450
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Femoral bowing	OMIM:126550
Microhydranencephaly	Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy	OMIM:605013
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Absent distal interphalangeal creases, Palmar hyperhidrosis, Inguinal ...	OMIM:620545
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Macrotia	ORPHA:1446
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Cleft upper lip, Congenital adrenal hyperplasia, Increased serum testosterone ...	ORPHA:96181
Thanatophoric Dysplasia Type 2	Micromelia, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Mandibular prognathia, Widely-spaced maxillary central incisors, Diastema, Thick lo...	OMIM:301040
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Hearing impairment, Oral leukoplakia...	ORPHA:2907
Amish Lethal Microcephaly	Micrognathia, Cleft soft palate, Death in infancy	ORPHA:99742
Autosomal Recessive Hypophosphatemic Rickets	Lower limb asymmetry, Delayed eruption of teeth, Polyarticular arthritis, Rickets of the lower li...	ORPHA:289176
Mehmo Syndrome	Talipes equinovarus, Tapered finger	ORPHA:85282
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Absent Achilles reflex, Pes planus, Hyporeflexia of lower limbs, Cal...	ORPHA:93952
Congenital Disorder Of Glycosylation, Type Id	Joint contracture of the hand, Clinodactyly, Clinodactyly of the 5th toe, Talipes equinovarus, Ad...	OMIM:601110
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Brachydactyly, Cleft palate	ORPHA:1642
Facioscapulohumeral Muscular Dystrophy 1	Calf muscle hypertrophy, Tongue atrophy, Scapular winging, Shoulder girdle muscle weakness	OMIM:158900
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Hypoplasia of the iris, Trapezoidal vertebral body, Brachydactyly, Short phalanx of f...	OMIM:600092
Duplication Of The Pituitary Gland	Volvulus, Retrognathia, Abnormality of the plantar skin of foot, Abnormal hypothalamus morphology...	ORPHA:314621
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Tolchin-Le Caignec Syndrome	Low-set ears, Abnormal vestibular function, Micrognathia, Narrow mouth, Submucous cleft hard pala...	OMIM:618971
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Developmental And Epileptic Encephalopathy 91	Talipes equinovarus, Single transverse palmar crease	OMIM:617711
Cowden Syndrome 6	Colonic diverticula, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Microgn...	OMIM:615109
Camurati-Engelmann Disease	Abnormal pelvic girdle bone morphology, Carious teeth, Aplasia/Hypoplasia of the radius, Delayed ...	ORPHA:1328
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small hand, Small pituitary gland, Xerostomia, Downturn...	ORPHA:398079
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Talipes equinovarus, Pes planu...	ORPHA:1900
Rabson-Mendenhall Syndrome	Precocious puberty, Abnormality of the dentition, Increased circulating androgen concentration, D...	ORPHA:769
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Bowing of the long bones, Absent frontal si...	ORPHA:955
Microcephaly 13, Primary, Autosomal Recessive	Small hand, Metaphyseal sclerosis, Micrognathia, Short foot, Macrotia	OMIM:616051
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short umbilical cord, Short humerus, Short femur	OMIM:618367
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resist...	ORPHA:79443
Myhre Syndrome	Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Cryptorchidism, Hypoplasia o...	OMIM:139210
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypoplasia of t...	OMIM:211380
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Short distal phalanx of finger, Ab...	ORPHA:289
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Palmoplantar keratoderma...	OMIM:129400
Meckel Syndrome 12	Low-set ears, Bifid uvula, Micrognathia, Antecubital pterygium, Rocker bottom foot	OMIM:616258
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Protruding tongue, Dea...	OMIM:214100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Downturned corners of mouth, Short toe, Cl...	OMIM:239300
Triploidy	Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth, Cryptorchidism, Macrogloss...	ORPHA:3376
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equ...	OMIM:249420
Dubowitz Syndrome	Low-set ears, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of...	OMIM:223370
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Nicolaides-Baraitser Syndrome	Broad 2nd toe, Short lingual frenulum, Cryptorchidism, Everted lower lip vermilion, Short metacar...	OMIM:601358
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2461
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Hy...	ORPHA:672
Hartnup Disorder	Glossitis	OMIM:234500
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Webb-Dattani Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Cryptorchidism, Deep philtru...	OMIM:615926
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, ...	OMIM:607932
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial poly...	OMIM:618142
X-Linked Dominant Chondrodysplasia Punctata	Lower limb asymmetry, Abnormally ossified vertebrae, Epiphyseal stippling, Anterior rib punctate ...	ORPHA:35173
Acrocardiofacial Syndrome	Toe syndactyly, Joint dislocation, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, C...	ORPHA:2008
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:241530
Lissencephaly 8	Talipes equinovarus, Skeletal muscle atrophy	OMIM:617255
Anophthalmia Plus Syndrome	Tessier cleft, Deviation of finger, Bilateral cleft palate, Non-midline cleft of the upper lip, C...	ORPHA:1104
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
Microtriplication 11Q24.1	Small hand, Genu valgum, Talipes equinovarus, Metatarsus adductus, Clinodactyly of the 5th finger...	ORPHA:289522
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Inguinal hernia, Umbilical hernia	OMIM:617662
Chondrodysplasia Punctata, Autosomal Dominant	Moderate postnatal growth retardation, Epiphyseal stippling, Knee flexion contracture, Hip contra...	OMIM:118650
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Short phalanx of finger, Broad...	OMIM:302350
Distal Deletion 15Q	Low-set ears, Abnormality of the dentition, Small hand, 2-3 toe cutaneous syndactyly, Short dista...	ORPHA:1596
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Kyphosis, Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Wormian...	OMIM:610915
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Upper limb muscle weakness, Lower limb muscle weakness, Sandal gap, Arachnodactyly, Talipes equin...	OMIM:617146
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Dpm1-Cdg	High, narrow palate, Sandal gap, Long hallux, Micrognathia, Tented upper lip vermilion, Knee flex...	ORPHA:79322
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ear, Clinodactyly of the 5th f...	ORPHA:2031
Neu-Laxova Syndrome 2	Low-set ears, Toe syndactyly, Finger syndactyly, Micrognathia, High palate, Rocker bottom foot, C...	OMIM:616038
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Shoulder flexion contracture, Elbow flexion contracture, Ulnar dev...	OMIM:193700
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, Mi...	ORPHA:199
Pontocerebellar Hypoplasia, Type 11	Talipes equinovarus, Pes planus, Skeletal muscle atrophy	OMIM:617695
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly, Cleft palate, Accessory oral frenulum	OMIM:616954
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Cleft palate	OMIM:601355
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Missing ribs, Orofacial clef...	ORPHA:3301
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:300554
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflexes, Foot do...	ORPHA:477817
White-Sutton Syndrome	Bifid uvula, Broad thumb, Hypoplastic cervical vertebrae, Downturned corners of mouth, Micrognath...	OMIM:616364
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Micromelia, Long philtrum, Crumpled long bones, Delayed cr...	OMIM:610682
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Aortic root aneurysm, Genu valgum, Congenital diaphragmatic hernia, Talipes ...	OMIM:245600
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Diabetes insipidus, Short 5th met...	ORPHA:264200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick upper lip vermilion, Narrow mouth, Brachydactyly, Thick lower lip vermilion	OMIM:608624
Multiple Pterygium Syndrome, Lethal Type	Amyoplasia, Flexion contracture, Short finger	OMIM:253290
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eruption of teeth,...	ORPHA:1855
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Duodenal stenosis, Hypoplastic iliac wing, P...	OMIM:190685
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Open mouth, Cryptorchidism, Ankle clonus	ORPHA:565624
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	ORPHA:289157
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Dystrophic toenail, Breast hypoplasia, Lumbar hyperlord...	ORPHA:1439
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dental crowding, Retrognathia, Long philtrum, Reduced circulating growth hormone concentration, M...	OMIM:620654
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus	OMIM:619972
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe...	OMIM:615349
Spastic Paraplegia 52, Autosomal Recessive	Facial hypotonia, Talipes equinovarus, Flexion contracture	OMIM:614067
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Micrognathia, Narrow ...	ORPHA:2108
1Q21.1 Microdeletion Syndrome	Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Sensor...	ORPHA:250989
Darier-White Disease	Palmar pits, Plantar pits, Enlargement of parotid gland	OMIM:124200
Weill-Marchesani Syndrome 2	Tooth malposition, Narrow palate, Broad phalanges of the hand, Hypoplasia of the maxilla, Short f...	OMIM:608328
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal amyotrophy, Pes cavus, Talipes equinovarus, Pes planus, Areflexia of lower limbs, Hyporefl...	OMIM:256850
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Hearing impairment, Recurrent otitis media, Femoral bowing, Tibial bowing, Neonatal d...	OMIM:616482
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue, Hypoplastic vertebral bodies, Limb undergro...	OMIM:230600
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Macroglossia, Volvulus, Thick lower lip vermilion, Tented upper lip...	ORPHA:847
Silver-Russell Syndrome 1	Delayed cranial suture closure, Clinodactyly of the 5th finger, Short distal phalanx of the 5th f...	OMIM:180860
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Dysplasia of the femoral head, Narrow mouth, Microgn...	ORPHA:536471
Cardiospondylocarpofacial Syndrome	Low-set ears, Cone-shaped epiphysis, Conductive hearing impairment, Long philtrum, Fusion of midd...	OMIM:157800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Pes cavus, Talipes equinovarus, Split hand, Acute rhabdomyolysis	OMIM:604168
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ...	ORPHA:2163
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Cataract, Hypoplasia of the odontoid process, Scoli...	OMIM:600373
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Hearing impairment, Delayed cranial suture closure, ...	ORPHA:85199
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormality of the lower limb, Ta...	ORPHA:974
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Sandal gap, Celiac disease, Downturned...	ORPHA:870
Steinfeld Syndrome	Bifid uvula, Hearing impairment, Median cleft palate, Median cleft upper lip, Aplasia/Hypoplasia ...	OMIM:184705
Ayme-Gripp Syndrome	Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Delayed cranial suture closu...	OMIM:601088
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Hernia, Talipes equinovarus, Adducted thumb, Hip disloc...	OMIM:616603
Gorlin Syndrome	Palmar pits, Carious teeth, Plantar pits, Cryptorchidism, Arachnodactyly, Hypogonadotropic hypogo...	ORPHA:377
Congenital Myopathy 17	Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Overlapping toe, Overlapping fi...	OMIM:618975
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Cryptorchidi...	ORPHA:818
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Sensorineural hearing impairment, High palate, Dislocated radial head...	OMIM:122470
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Short philtru...	OMIM:614230
Menke-Hennekam Syndrome 2	Cutaneous syndactyly of toes, Hearing impairment, Sandal gap, Agenesis of permanent teeth, Overla...	OMIM:618333
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Low-set, posteriorly rotated ears, H...	ORPHA:434179
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Pes cavus, Adenocarcinoma of the colon, Multiple enchondromatosis, Posteriorly rota...	OMIM:620189
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Microcornea, Ectopia pupillae, Long eyelashes, 2-3 toe syndactyly, Recurren...	OMIM:615877
Birk-Barel Syndrome	Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal...	OMIM:612292
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Clinodactyly, Long philtrum, Decreased response to growth hormone stimulatio...	ORPHA:488632
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Abnormal helix morphology, Downturned corners of mouth, Hearing impairment, Furrowed...	ORPHA:453499
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft palate, Cleft upper lip	OMIM:607371
Enlarged Parietal Foramina	Cleft lip, Broad thumb, Short clavicles, Craniosynostosis, Cleft palate	ORPHA:60015
Cardiofaciocutaneous Syndrome 1	Low-set ears, Abnormality of the dentition, Dental malocclusion, Hearing impairment, Large earlob...	OMIM:115150
Maternal Phenylketonuria	Clinodactyly, Long philtrum, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia,...	ORPHA:2209
Developmental And Epileptic Encephalopathy 89	Low-set ears, Microretrognathia, Long philtrum, Asymmetry of the ears, Death in childhood, Neonat...	OMIM:619124
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Crypto...	OMIM:309583
Silver-Russell Syndrome 3	Antecubital pterygium, Clinodactyly of the 5th finger, Small hand, Syndactyly	OMIM:616489
Isolated Cleft Lip	Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ...	ORPHA:199302
Wieacker-Wolff Syndrome	Hip dislocation, Distal amyotrophy, Talipes equinovarus, Palmar hyperkeratosis, Camptodactyly, Fa...	OMIM:314580
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies...	OMIM:258480
15q26 overgrowth syndrome	Long philtrum, Camptodactyly of finger, Abnormal joint morphology, Micrognathia, Arachnodactyly, ...	DECIPHER:81
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Everted lower lip vermilion, High palate, Bile duct proliferation, Sy...	OMIM:613610
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Macroglossia, Brachydactyly	ORPHA:79325
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Abnormal foot morphology, Facial diplegia, 2-3 toe syndactyly, Hypomimic face, Bi...	OMIM:618186
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger, Micrognathia, Malar flattening, Sensorineural hearing i...	OMIM:609944
Schisis Association	Unilateral cleft lip, Micromelia, Tracheoesophageal fistula, Anal atresia, Cleft palate	ORPHA:63862
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Abnormal foot morphology, Pes cavus, Senso...	ORPHA:99949
Carpenter Syndrome 2	Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Ta...	OMIM:614976
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Knee flexion contracture, Bilateral talipes equinovarus, Limb joint co...	ORPHA:284417
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Xerostomia, Glossitis, Hamartomatous polyposis, Clubbing, Clubbing of...	OMIM:175500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Oncogenic Osteomalacia	Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Tibial bowi...	ORPHA:352540
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Thickened ears, H...	ORPHA:444077
Distal Deletion 12Q	Overlapping toe, Micrognathia, Large hands, Duodenal atresia, High, narrow palate, Annular pancre...	ORPHA:96149
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Small hypothenar eminence, Absence of secondary...	ORPHA:2232
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Clinodactyly, Talipes calcaneovalgus, Genu valgum, Open mouth, Protruding tongue, Micrognathia, C...	OMIM:309580
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Rocker bottom foot, Hip contracture, Weakness of facial musculature...	OMIM:301041
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Anal atre...	OMIM:305450
Rahman Syndrome	Camptodactyly, Talipes equinovarus	OMIM:617537
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ...	ORPHA:1521
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Retrognathia, Overlapping fingers, Micrognathia, Narrow mouth, Protruding tongue, D...	OMIM:608779
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo...	ORPHA:90695
Diamond-Blackfan Anemia	Low-set ears, Cleft lip, Absent thumb, Short thumb, Cleft soft palate, Micrognathia, Partial dupl...	ORPHA:124
Cowden Syndrome 1	Colonic diverticula, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Microgn...	OMIM:158350
Orofaciodigital Syndrome Xiv	Low-set ears, Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Preaxial polydac...	OMIM:615948
Gm1 Gangliosidosis	Low-set ears, Mandibular prognathia, Coarse metaphyseal trabecularization, Abnormal epiphysis mor...	ORPHA:354
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Cryptorchidism, Wide mouth, Abno...	OMIM:154500
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Familial Visceral Myopathy	Hyperparathyroidism, Camptodactyly of finger, Micrognathia, Arachnodactyly, Aganglionic megacolon...	ORPHA:2604
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Absent nipple, Cubitus valgus, Hemivertebrae, Scoliosis, Syndactyly	OMIM:104350
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Hypothyroidism, Limb undergrowth, High palate, Hip dislocation	OMIM:618005
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Wide mouth, Protruding tongue, Submucous cleft hard palate, Thick vermilion bord...	OMIM:618106
3Mc Syndrome 3	Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Corneal opacity...	OMIM:248340
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Gingival overgrowth, Tented upper lip vermilion, Protrudin...	OMIM:619777
Joubert Syndrome 37	Postaxial polydactyly, Lumbar hyperlordosis, Sparse hair, Prominent metopic ridge	OMIM:619185
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal malrotation, Hallux varus,...	ORPHA:93260
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Broad thumb, Micrognathia, Exaggerated cupid's bow, Talipes equinovarus, Macroglossia,...	OMIM:614501
Peroxisome Biogenesis Disorder 7A (Zellweger)	Talipes equinovarus, Epiphyseal stippling	OMIM:614872
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Leukocyte Adhesion Deficiency Type Ii	Conductive hearing impairment, Recurrent otitis media, Overlapping toe, Gingival overgrowth, Prot...	ORPHA:99843
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Narrow mouth, High palate, Anal atresia, Short foot, Proportionate shortening of all ...	ORPHA:280633
Glycogen Storage Disease Iv	Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy, Talipes equinov...	OMIM:232500
Restrictive Dermopathy 1	Low-set ears, Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ...	OMIM:275210
Prader-Willi Syndrome	Premature adrenarche, Abnormality of the dentition, Small hand, Precocious puberty, Periodontitis...	ORPHA:739
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor...	ORPHA:320375
Bcard Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Cryptorchidism, Broad fingertip, Celiac disease, Dislocated radial he...	OMIM:136140
Spastic Paraplegia 9A, Autosomal Dominant	Hiatus hernia, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Pes cavus	OMIM:601162
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly, Ca...	ORPHA:306542
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Anterior pituitary hypoplasia, ...	OMIM:181450
Charcot-Marie-Tooth Disease, Type 4D	Distal amyotrophy, Pes cavus, Claw hand deformity, Talipes cavus equinovarus, Hammertoe	OMIM:601455
Retinitis Pigmentosa 74	Posterior polar cataract, Polydactyly	OMIM:616562
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Pulmonary artery atresia, Talipes equinovalgus, Overlapping fingers, ...	OMIM:301056
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Duodenal ulcer, Brachydactyly, Short palm	ORPHA:3217
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Arachnodactyly, Talipes equinovarus, Aortic root aneurysm	OMIM:301039
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Clinodactyly of the 5th finger, Pes cavus, Single transverse palmar crease, Faci...	OMIM:617807
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati...	ORPHA:226307
Toriello-Carey Syndrome	Clinodactyly, Anteriorly placed anus, Micrognathia, Cryptorchidism, Abnormal palate morphology, A...	ORPHA:3338
Eec Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Xerostomia, Abnormal dental ename...	ORPHA:1896
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Recurrent joint dislocation, Cleft soft p...	OMIM:619472
Xq21 Microdeletion Syndrome	Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Abnormality o...	ORPHA:1435
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Cleft palate, Median cleft upper lip, Abnormal morphology of the radius	ORPHA:2165
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, posteriorly r...	ORPHA:1340
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Protruding tongue, Single transverse palmar crease, Thin upper lip ve...	OMIM:617062
Meckel Syndrome, Type 4	Bowing of the long bones, Bile duct proliferation, Cleft palate, Postaxial hand polydactyly	OMIM:611134
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Inguinal hernia, Talipes equinov...	OMIM:219150
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Broad thumb, Toe syndactyly, Overlapping toe, Arachnodactyly, Talipes equinovarus, Tapered finger...	ORPHA:505237
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Rhizomelic arm shortening, Gingival overgrowth, Short humerus, Brachyd...	ORPHA:508542
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ...	ORPHA:158687
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Sh...	OMIM:305600
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synos...	ORPHA:3404
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Postnatal growth re...	OMIM:248700
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Decreased muscle mass, Umbilical hernia, Talipes calcaneo...	ORPHA:2962
Spastic Paraplegia 50, Autosomal Recessive	Talipes equinovarus, Limb hypertonia, Adducted thumb	OMIM:612936
Microphthalmia, Syndromic 2	Hand clenching, Sensorineural hearing impairment, Contracture of the proximal interphalangeal joi...	OMIM:300166
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Arachnodactyly,...	ORPHA:371364
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion, Overlapping toe, Micrognathia...	OMIM:309590
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Talipes equinovarus, Omphalocele, Preaxial hand polydactyly	OMIM:601389
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hearing impairment, Short 5th toe, Widely spaced teeth, 2-4 toe cutaneous syndactyly, Abnormal fo...	ORPHA:268261
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum, Wide mouth...	OMIM:607812
Meester-Loeys Syndrome	Bifid uvula, Broad distal phalanx of finger, Joint dislocation, Gingival overgrowth, Malar flatte...	OMIM:300989
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Autosomal Recessive Dopa-Responsive Dystonia	Talipes equinovarus, Pes cavus	ORPHA:101150
Tetrasomy 5P	Postnatal growth retardation, Overlapping toe, Pericallosal lipoma, Talipes equinovarus, Aplasia/...	ORPHA:3309
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Cog1-Cdg	Rhizomelia, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Thin up...	ORPHA:263508
Generalized Arterial Calcification Of Infancy	Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Abnormal hip joint morpholog...	ORPHA:51608
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Elbow flexion contracture, Overlapping toe, Hip contracture, Tal...	OMIM:617301
Teebi-Shaltout Syndrome	High, narrow palate, Caudal appendage, Prominent palatine ridges, Narrow mouth, Single transverse...	OMIM:272950
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Oste...	ORPHA:1416
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-...	OMIM:164200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Internally rotated shoulders, Cleft soft palate, Narrow mou...	OMIM:619503
Dent Disease 1	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:300009
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Marfan Syndrome	Genu recurvatum, Narrow palate, Dental crowding, Retrognathia, Premature osteoarthritis, Microgna...	OMIM:154700
X-Linked Intellectual Disability, Armfield Type	Small hand, Mandibular prognathia, Downturned corners of mouth, Macrotia, Long ear, Micrognathia,...	ORPHA:85276
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Broad alveolar ridges, Cleft lip, Duodenal atresia, Furrowed tongue, Micrognathia, ...	OMIM:616975
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Talipes equinovarus	OMIM:618845
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Long philtrum, Cryptorchidism, Advanced eruption of teeth, Orofacia...	ORPHA:1519
Laryngeal Abductor Paralysis	Talipes equinovarus	OMIM:150260
20Q13.33 Microdeletion Syndrome	Talipes equinovarus, Pes planus, Abnormal limb bone morphology, Hallux valgus, Facial hypotonia, ...	ORPHA:261311
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Osteopenia, Joint contracture of the hand, Umbilical hernia, Genu valgum, Inguin...	OMIM:182212
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Pes planus, Everted lower ...	OMIM:615873
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla...	ORPHA:2911
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Broad foot, Limited elb...	OMIM:261540
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Aplasia of the epiglottis, Postaxial polydactyly, Short clavicles, Median ...	OMIM:617088
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Small hand, Xerostomia, Downturned corners of mouth, C...	ORPHA:398069
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Abnormal antiheli...	ORPHA:3047
Fetal Akinesia Deformation Sequence 1	Low-set ears, High, narrow palate, Slender long bone, Long philtrum, Camptodactyly of finger, Uln...	OMIM:208150
Chromosome Xq13 Duplication Syndrome	Clinodactyly of the 5th finger, Limited elbow extension, Talipes equinovarus, Pes planus, Metatar...	OMIM:301069
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormality of canine, Short thumb, Widely spaced teeth, Supernumerary nipple, Cryptorchidism, Ab...	ORPHA:477993
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Absence of the sacrum, Submucous cleft hard palate, Sensorineural hearing impairment...	OMIM:617660
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Thoracic kyphosis, Thick eyebrow, ...	OMIM:148050
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Cryptorchidism, Single transver...	ORPHA:404448
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Small hand, Hypertrichosis, Astigmatism, Postaxial polydactyly, Unilateral breast hypop...	OMIM:300968
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Abnormal foot morphology, Overlapping toe, Overlapping fingers, Tal...	OMIM:617822
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Retrognathia, Distal shortening of limbs, Thickened cortex of lon...	ORPHA:488434
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Pes cavus, Equinus calcaneus, Decreased patellar reflex, Hypoparathyroidism	ORPHA:746
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Hartsfield Syndrome	Hypoplasia of the frontal bone, Cleft upper lip, Ectrodactyly, Cryptorchidism, Median cleft upper...	OMIM:615465
Duane Retraction Syndrome	Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr...	ORPHA:233
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Solar Urticaria	Vertigo, Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Popliteal Pterygium Syndrome	Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut...	OMIM:119500
Frontometaphyseal Dysplasia 2	Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, High palate, Dislocated radial...	OMIM:617137
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Pes cavus, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Scapu...	OMIM:620285
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Cran...	ORPHA:1790
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, H...	ORPHA:2215
Holoprosencephaly 9	Anterior pituitary agenesis, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malo...	OMIM:610829
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Arthritis, Abnormal salivary gland...	OMIM:181000
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Talipes equinovarus, Pes planus, Enamel hypoplasia, Clinodactyly ...	OMIM:619293
Congenital Sialidosis Type 2	Low-set ears, Hearing impairment, Gingival overgrowth, Protruding tongue, Polydactyly	ORPHA:93400
Adams-Oliver Syndrome 5	Brachydactyly, Esophageal varix, Syndactyly	OMIM:616028
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Cataract, Tibial bowing, Iris atrophy, Biconcave vertebral bodies, Kyphoscoliosis,...	OMIM:259770
Lelis Syndrome	Carious teeth, Furrowed tongue, Hypodontia, Palmoplantar hyperkeratosis, Mandibular prognathia	ORPHA:140936
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Talipes equinovarus, Clinodactyly	OMIM:616789
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Micrognathia, Protruding tongue, Malar flattening, Sinusitis, Macroglossia	OMIM:242860
Intellectual Developmental Disorder, Autosomal Dominant 57	Narrow mouth, Thin upper lip vermilion, Pes planus, Brachydactyly, Absent fourth finger distal in...	OMIM:618050
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hearing impairment, Micrognathia, Cleft soft palate, Submucous cleft soft palate, Microtia	ORPHA:2282
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Xerostomia	ORPHA:85443
Intellectual Developmental Disorder, Autosomal Dominant 51	Long foot, Talipes equinovarus, Long toe	OMIM:617788
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Postnatal growth retardation, Dysplasia of the femoral head, Arachnodactyly...	ORPHA:536467
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Microgna...	OMIM:619325
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Dental crowding, Retrognathia, Long philtrum, Malar flattening, R...	OMIM:617157
Choanal Atresia	Craniosynostosis, Polydactyly	ORPHA:137914
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Retrognathia, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal at...	OMIM:619227
Rhombencephalosynapsis	Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly	ORPHA:59315
Charge Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Radial head subluxation, Absent rad...	OMIM:214800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus	OMIM:618917
Holoprosencephaly	Hypoplasia of the zygomatic bone, Tooth agenesis, Panhypopituitarism, Median cleft palate, Crypto...	ORPHA:2162
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandibular joint ank...	ORPHA:217085
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Atypical scarring of skin, Aortic dissection, Atrophic scars, Talipes equinovarus...	OMIM:618343
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Cryptorchidism, Abnormal metacarpal morph...	OMIM:268300
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate	ORPHA:2736
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Retrognathia, Stenosi...	ORPHA:107
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced teeth, Recurrent otitis me...	ORPHA:513456
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Clinodactyly, Hearing impairment, Retrognathia, Micrognathia, ...	ORPHA:1724
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Overlapping toe, Talipes equinovarus, Flexion contracture, Tapered finger	OMIM:617452
Double Outlet Right Ventricle	Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Abnormality of cartilage of ex...	ORPHA:3426
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Talipes equinovarus, Flexion contracture, Short toe	ORPHA:98791
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Preaxial hand p...	OMIM:113620
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Abnormal thumb morphology, Tibi...	ORPHA:500095
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Scoliosis, Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Lar...	OMIM:619269
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Mandibular prognathia, Unilateral cleft lip, Thick lower lip vermilion, Submucous c...	OMIM:619103
Neuroocular Syndrome 1	Low-set ears, Genu recurvatum, Cupped ear, Downturned corners of mouth, Short uvula, Widely space...	OMIM:619539
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, Micrognathia, ...	OMIM:612731
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandibular joint ank...	ORPHA:217093
Mycophenolate Mofetil Embryopathy	Tessier cleft, Atresia of the external auditory canal, Hearing impairment, Anotia, Micrognathia, ...	ORPHA:268249
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess...	ORPHA:251937
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short rib...	OMIM:616546
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Zttk Syndrome	Low-set ears, Bifid uvula, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, D...	OMIM:617140
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Atrophic scars, Talipes equinovarus, Hallux valgus, Pes planus, Hip dislocation, Hyperextensibili...	OMIM:617821
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philtrum	OMIM:619321
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Pes planus, Ge...	OMIM:616268
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Talipes, Bowin...	OMIM:249000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal pelvis bone ossification, Long philtrum, Cleft upper lip, Preaxial hand p...	ORPHA:93271
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Absent gallbladder, Talipes, Orofaci...	ORPHA:1335
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Narrow mouth, Sy...	ORPHA:990
Prune Belly Syndrome	Congenital hip dislocation, Aplasia of the abdominal wall musculature, Talipes equinovarus	OMIM:100100
Chops Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Cryptorchidism, Cervical C2/C3 v...	OMIM:616368
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Talipes equinovarus	OMIM:617333
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Pontocerebellar Hypoplasia, Type 8	Talipes equinovarus, Pes cavus, Arthrogryposis multiplex congenita, Talipes valgus	OMIM:614961
Smith-Lemli-Opitz Syndrome	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Talipes cal...	OMIM:270400
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Cryptorchidism, Broad fingertip, Celiac disease, Dislocated radial h...	ORPHA:2044
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Short distal phalanx of finger, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero rib ossification, Absent in utero ossification of...	OMIM:608022
Feingold Syndrome Type 1	Toe syndactyly, Conductive hearing impairment, Short thumb, Short middle phalanx of finger, Micro...	ORPHA:391641
Melioidosis	Foot osteomyelitis, Parotitis, Osteoarthritis, Septic arthritis, Abnormal parotid gland morphology	ORPHA:31202
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Fraser Syndrome 1	Low-set ears, Tessier cleft, Difficulty in tongue movements, Cupped ear, Atresia of the external ...	OMIM:219000
Arteriosclerosis, Severe Juvenile	Dysplasia of second lumbar vertebra, Short phalanx of finger, Hip dysplasia	OMIM:208060
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Arachnodactyly, Type 1 muscle fiber atr...	OMIM:619036
Meckel Syndrome	Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed...	ORPHA:564
Cinca Syndrome	Delayed closure of the anterior fontanelle, Joint dislocation, Brachydactyly, Abnormal joint morp...	ORPHA:1451
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Sensorineural hearing impairment, High palate, Short foot, Shor...	OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus	OMIM:616521
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, An...	OMIM:300960
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Long philtrum, Intestinal fistula, Cleft upper...	ORPHA:709
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
C Syndrome	Hypoplasia of the ear cartilage, Toe syndactyly, Joint dislocation, Micromelia, Long philtrum, Di...	ORPHA:1308
Fraser Syndrome 3	Low-set ears, Short toe, Micrognathia, Simple ear, Cutaneous syndactyly, Stillbirth	OMIM:617667
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Talipe...	ORPHA:98915
Distal Deletion 19P	Hypoplasia of the maxilla, Arachnodactyly, Long toe, Short philtrum, Cleft palate	ORPHA:96129
Stromme Syndrome	Preaxial polydactyly, Intestinal malrotation, Micrognathia, Jejunal atresia, Stillbirth, Wide mou...	OMIM:243605
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormality of the hand, Abnormal pelvis bon...	ORPHA:2273
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bifid uvula, Carious teeth, Bilateral conductive hearing impairment, Progressive se...	OMIM:620186
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlapping toe, Narrow mou...	OMIM:613406
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Narrow mouth, Cryptorchidism,...	ORPHA:2166
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in upper limbs, Hand muscle weakness, Distal upper limb amyotrophy, Pes ...	ORPHA:101085
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Alfadhel Syndrome	Talipes equinovarus	OMIM:620655
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Astigmatism, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand...	OMIM:619471
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, Talipes, Pes planus, High palate, Prominent fingertip...	OMIM:612474
Jacobsen Syndrome	Annular pancreas, Micrognathia, Cryptorchidism, Missing ribs, Brachydactyly, Clinodactyly of the ...	OMIM:147791
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Aortic rupture, Skeletal muscle atrophy, Umbilical hernia, Atrophic scars, Type 1 mus...	OMIM:614557
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Ao...	OMIM:614816
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Cowden Syndrome	Follicular thyroid carcinoma, Palmoplantar keratoderma, Adenoma sebaceum, Goiter, Furrowed tongue...	ORPHA:201
Igg4-Related Ophthalmic Disease	Abnormality of the sphenoid sinus, Sialadenitis, Orchitis, Abnormality of the anterior pituitary,...	ORPHA:449563
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Postnatal growth retardation, Talipes equinovarus, Pes valgus, Pes ...	OMIM:620029
Joubert Syndrome 1	Low-set ears, Postaxial foot polydactyly, Clinodactyly, Triangular-shaped open mouth, Protruding ...	OMIM:213300
Spastic Paraplegia 51, Autosomal Recessive	Facial hypotonia, Talipes equinovarus, Flexion contracture, Decreased muscle mass	OMIM:613744
Congenital Syphilis	Hearing impairment, Hyperplasia of the maxilla, Tibial bowing, Synovitis, Osteochondrosis, Mulber...	ORPHA:499009
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Sensorineural h...	ORPHA:3241
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Anal atresia, Duodenal atresia, Prominent fingerti...	OMIM:229850
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Palmar neurofibroma, Multiple intestinal neuro...	ORPHA:252183
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Arthritis, Sinusitis, Glossoptosis, Chronic otitis media	ORPHA:47
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn...	OMIM:620025
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteopenia, Atypical scarring of skin, Skeletal muscle atrophy, Knee ...	ORPHA:536545
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Death in childhood, Split hand, Clubbing, Cleft palate	OMIM:600460
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s...	OMIM:300967
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Icf Syndrome	Low-set ears, Macroglossia, Micrognathia, Protruding tongue	ORPHA:2268
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Meckel Syndrome 14	Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxia...	OMIM:619879
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Foam cell...	OMIM:607330
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Bifid uvula, 3-4 toe syndactyly, Hypogonadism, Genu...	ORPHA:1449
Arthrogryposis Multiplex Congenita 5	Hand clenching, Umbilical hernia, Elbow flexion contracture, Inguinal hernia, Talipes equinovarus...	OMIM:618947
Mgat2-Cdg	Dental crowding, Open mouth, Hypoplastic nipples, Brachydactyly, Abnormality of the endocrine system	ORPHA:79329
Congenital Disorder Of Glycosylation, Type Ih	Camptodactyly, Talipes equinovarus	OMIM:608104
Mucopolysaccharidosis, Type Vii	Umbilical hernia, Postnatal growth retardation, Genu valgum, Diastasis recti, Acetabular dysplasi...	OMIM:253220
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins...	ORPHA:2965
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Joint contracture of the hand, Small hand, Umbilical hernia, Cutaneous ...	OMIM:235510
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Broad foot, Talipes equinovaru...	OMIM:312870
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Umbilical hernia, Overlapping toe, Pes cavus, Inguinal hernia, Talipes equinovaru...	OMIM:601808
Prune Belly Syndrome	Talipes equinovarus, Aplasia of the abdominal wall musculature, Congenital hip dislocation	ORPHA:2970
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, Thin upper lip vermilion, Smooth philtrum, 2-3 toe syndactyly, Pes valgus, Bil...	ORPHA:522077
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Congenital diaphragmatic hernia, Talipes equinovarus, Achilles ten...	ORPHA:363528
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Thin upper lip vermilion, Glossitis, Talipes equinovarus, Tracheoesophageal fistula...	OMIM:277380
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Broad foot, Sensorineural hear...	OMIM:619841
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Talipes equinovarus, Wrist flexion contracture, Calf muscle hypertrophy...	OMIM:618733
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus	ORPHA:544469
Seckel Syndrome 9	Talipes equinovarus, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia	OMIM:616777
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypophosphatemic rickets, Myopathy, Si...	OMIM:619743
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Osteopenia, Varus deformity of humeral neck, Umbilical herni...	OMIM:252500
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Umbilical hernia, Long hallux, Bilateral camptodactyly, Talipes equinovarus	OMIM:619234
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Cleft upper lip, Absent gallbladder, Talipes equinovarus, Postaxial h...	OMIM:612284
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Talipes equin...	OMIM:242900
Miller-Dieker Lissencephaly Syndrome	Cataract, Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palma...	OMIM:247200
Blau Syndrome	Xerostomia, Polyarticular arthritis, Camptodactyly of finger, Joint swelling, Synovitis, Abnormal...	ORPHA:90340
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bo...	ORPHA:800
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Scoliosis, Syndactyly	OMIM:217100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open mouth, Sensorineural he...	ORPHA:261537
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Overlapping toe, Distally placed thumb, Single transverse palmar crease, Talipes equ...	OMIM:619148
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Skeletal muscle fibrosis, Talipe...	OMIM:616263
Fontaine Progeroid Syndrome	Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Everted lower lip ve...	OMIM:612289
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Retrognathia, Micrognathia, Malar flattening, Absent ...	OMIM:610168
Tetraamelia Syndrome 1	Low-set ears, Cleft upper lip, Micrognathia, Hypoplastic pelvis, Tetraamelia, Anal atresia, Cleft...	OMIM:273395
Noonan Syndrome 13	Lower limb asymmetry, Clinodactyly, Overlapping toe, Limited elbow extension, Cubitus valgus, Pes...	OMIM:619087
Holoprosencephaly 13, X-Linked	Low-set ears, Hearing impairment, Micrognathia, Median cleft palate, Submucous cleft hard palate,...	OMIM:301043
Mucopolysaccharidosis, Type Ivb	Hypoplasia of the capital femoral epiphysis, Genu valgum, Grayish enamel, Inguinal hernia, Coxa v...	OMIM:253010
Charge Syndrome	Bifid femur, Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the zygomatic bone, Abnorm...	ORPHA:138
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Hearing impairment, Death in childhood, Ankle clonus, Sensorineural hearin...	OMIM:211530
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Otosclerosis, Conductive hearing impairment, Temporomandibular joint ankylosi...	ORPHA:580
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Kyphosis, Breast hypoplasia, Astigmatism, Polydactyly, Arachnodactyly, Abnormalit...	ORPHA:464306
Optic Atrophy 11	Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, Facial diplegia, F...	OMIM:617302
Monosomy 9Q22.3	Palmar pits, Cataract, Abnormality of the vertebral column, Polydactyly, Short neck, Metopic syno...	ORPHA:77301
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Retrognathia, Open mouth, Submucous cleft hard palate, Talipes, Abn...	OMIM:192430
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,...	ORPHA:110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Single transverse palmar crease, Talipes equinovarus, Cubitus valg...	OMIM:214110
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Joint dislocation, Prominent fingertip pads, Decreased response to growth hor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Joint dislocation, Prominent fingertip pads, Decreased response to growth hor...	ORPHA:363958
Neurocardiofaciodigital Syndrome	Cataract, Sparse eyebrow, Polydactyly, Sclerocornea, Sparse hair, Syndactyly	OMIM:619869
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume, Brachydactyly	ORPHA:168577
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Single transverse palmar crease, Thin upper lip vermilion, Pes valgus, ...	ORPHA:466950
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
49,Xxxyy Syndrome	Bilateral talipes equinovarus, Finger clinodactyly, Abnormal plantar dermatoglyphics	ORPHA:261534
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Radial deviation of finger, Clinodactyly, Hypogonadism,...	OMIM:163950
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth, Mitten deformity,...	ORPHA:89842
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Chromosome 1Q41-Q42 Deletion Syndrome	Talipes equinovarus, Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly	OMIM:612530
Mowat-Wilson Syndrome	Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Sensorineural hearing impairm...	ORPHA:2152
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Peters anomaly, Clinodactyly, Corneal scarring, Postaxial poly...	OMIM:618460
Noonan Syndrome	Thick lower lip vermilion, Delayed menarche, Micrognathia, Cryptorchidism, Radioulnar synostosis,...	ORPHA:648
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Sparse lateral eyebrow, Polydactyly	ORPHA:314655
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Autosomal Dominant Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus, Progressive flexion contractures, Torticollis, Paresis of extenso...	ORPHA:98808
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
49,Xxxxy Syndrome	Elbow dislocation, Abnormal dental enamel morphology, Talipes equinovarus, Radioulnar synostosis,...	ORPHA:96264
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Pgm3-Cdg	Decreased/absent ankle reflexes, Esophagitis, Chronic sinusitis, Brachydactyly, High palate	ORPHA:443811
Halperin-Birk Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Talipes equinovarus, Flexion ...	OMIM:618651
Alg12-Cdg	Sandal gap, Overlapping fingers, Talipes equinovarus, Long fingers, Abnormal bone ossification, C...	ORPHA:79324
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Vertebral fusion, Broad palm, Metatarsus adductus, Camptodactyly, Clinoda...	OMIM:227330
Igg4-Related Kidney Disease	Sialadenitis, Chronic sinusitis, Abnormality of the anterior pituitary, Thyroiditis, Pedal edema	ORPHA:449395
Monosomy 13Q14	Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of ...	ORPHA:1587
Hutchinson-Gilford Progeria Syndrome	Prominent ear helix, Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, High pala...	ORPHA:740
Okamoto Syndrome	Low-set ears, Abnormal helix morphology, Anal stenosis, Exaggerated median tongue furrow, Downtur...	ORPHA:2729
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Downturned corners of mouth, Single transverse palmar crease, Thin upper lip vermilion, Pes valgu...	ORPHA:466943
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology, Anteriorly placed anus	OMIM:600057
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98795
Legius Syndrome	Clinodactyly of the 5th finger, Scoliosis, Cataract, Polydactyly	ORPHA:137605
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Bifid uvula, Hypoplasia of the maxilla, Absent thumb, Hearing impairment, Downturne...	ORPHA:500150
Autosomal Dominant Cutis Laxa	Genu recurvatum, Osteopenia, Peripheral pulmonary artery stenosis, Talipes calcaneovalgus, Postna...	ORPHA:90348
Kleefstra Syndrome	Hernia, Talipes equinovarus, Coarctation of aorta, Pulmonary artery stenosis, Macroglossia	ORPHA:261494
Adams-Oliver Syndrome 1	Toe syndactyly, Cleft upper lip, Supernumerary nipple, Talipes equinovarus, Brachydactyly, Cleft ...	OMIM:100300
Slc39A8-Cdg	Low-set ears, Cutaneous syndactyly of toes, Hearing impairment, Elbow flexion contracture, Knee f...	ORPHA:468699
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Mucolipidosis Type Ii	Limited wrist movement, Decreased movement range in interphalangeal joints, Umbilical hernia, Pos...	ORPHA:576
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open mouth, Sensorineural he...	ORPHA:261552
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl...	OMIM:105830
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Brachydactyly, Short palm	ORPHA:3339
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irreg...	ORPHA:99646
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Difficulty in tongue ...	ORPHA:99956
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Micrognathia, Genu valgum, Unilateral conductiv...	OMIM:619488
Spinocerebellar Ataxia Type 36	Vertigo, Tongue fasciculations, Tongue atrophy, Hearing impairment	ORPHA:276198
Joubert Syndrome 38	Ectopic posterior pituitary, Small pituitary gland, Downturned corners of mouth, Decreased respon...	OMIM:619476
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th ...	ORPHA:457284
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:411511
Opitz Gbbb Syndrome	Low-set ears, Cleft lip, Natal tooth, Hearing impairment, Long philtrum, Ankyloglossia, Micrognat...	ORPHA:2745
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins...	ORPHA:91347
Lynch Syndrome	Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Intestinal polyposis...	ORPHA:144
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Pes cavus, Knee flexion contracture...	OMIM:148210
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Mosaic Trisomy 9	Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Deep plantar creases, Micromelia...	ORPHA:99776
Cerebrofacioarticular Syndrome	Camptodactyly, Talipes equinovarus, Osteopenia, Syndactyly	ORPHA:314679
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy, Hearing impairment	OMIM:614153
1P36 Deletion Syndrome	Annular pancreas, Lower limb asymmetry, Long philtrum, Camptodactyly of finger, Hypogonadism, Del...	ORPHA:1606
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger	OMIM:222748
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Monosomy 18Q	Left aortic arch with right descending aorta and right ductus arteriosus, Arachnodactyly, Talipes...	ORPHA:1600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Wide mouth, Limitation of movement at ankles, Protruding tongue, Mandibular ...	ORPHA:98794
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Front...	OMIM:180849
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Restrictive Dermopathy	Low-set ears, Microcolon, Natal tooth, Structural foot deformity, Camptodactyly of finger, Tempor...	ORPHA:1662
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus	OMIM:619752
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Jaberi-Elahi Syndrome	Hand clenching, Talipes equinovarus	OMIM:617988
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Oligoarthritis, Geographic tongue	OMIM:614204
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Talipes equinovarus	OMIM:617865
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins...	ORPHA:54595
Mirage Syndrome	Radial club hand, Talipes equinovarus, Overlapping fingers, Rocker bottom foot	OMIM:617053
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Acetabular spurs, Genu valgum, Talipes equino...	OMIM:225500
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad thumb, Short thumb, Broad hallux, Pes planus, Torticollis, Bilateral talipes equinovarus, C...	OMIM:620224
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Short toe, Cryptorchidism, Posterior pituitary hypoplasia, Flexion con...	ORPHA:464311
Meningioma	Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
Sarcoidosis	Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Joint swelling, Abnormality of...	ORPHA:797
Trichohepatoneurodevelopmental Syndrome	Absent Achilles reflex, Overlapping toe, Fibular bowing, Clinodactyly of the 5th finger, Talipes ...	OMIM:618268
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Talipes equinovarus	OMIM:177980
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus	OMIM:191830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Growth arrest lines, Abnormal pelvic girdle bone morphology, Aplasia ...	OMIM:102700
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Talipes valgus, Umbilical hernia, Genu valgum, Myopathy, Cortic...	ORPHA:309282
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Overlapping toe, Inguinal hernia, Talipes equinovarus, Pes planus, ...	OMIM:213980
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Slender finger, Pes cavus, Hiatus hernia, Talipes ...	OMIM:251300
Barth Syndrome	Talipes equinovarus, Skeletal myopathy	OMIM:302060
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Joint contracture of the hand, Distal upper limb muscle ...	ORPHA:466768
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low-set ears, Gingival overgrowth, Wide mouth, Protruding tongue	OMIM:618797
Phosphoribosylaminoimidazole Carboxylase Deficiency	Talipes equinovarus, Clinodactyly of the 5th finger	OMIM:619859
D-Bifunctional Protein Deficiency	Osteopenia, Decreased muscle mass, Talipes equinovarus, Split hand, Hammertoe	OMIM:261515
Loeys-Dietz Syndrome 3	Abdominal aortic aneurysm, Arachnodactyly, Talipes equinovarus, Knee osteoarthritis, Pes planus, ...	OMIM:613795
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue, Hearing impairment	OMIM:619580
Bilateral Polymicrogyria	Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Facial diplegia, Talipes e...	ORPHA:268940
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Hand clenching, Flexion contracture, Talipes equinovarus	OMIM:614653
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Toe syndactyly, 3-4 toe syndactyly, Single transverse palma...	OMIM:300707
Japanese Encephalitis	Genu recurvatum, Distal upper limb muscle weakness, Skeletal muscle atrophy, Elbow flexion contra...	ORPHA:79139
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Osteopenia, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Pal...	OMIM:225400
Hardikar Syndrome	Unilateral cleft lip, Mild hearing impairment, Vertigo, Intestinal malrotation, Cleft soft palate...	OMIM:301068
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage, Esophagitis	ORPHA:3348
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphala...	OMIM:192350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Talipes equinovarus, Coarctation of aorta, Pes planus	OMIM:617260
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly	OMIM:236700
Trisomy 10P	Short toe, Decreased muscle mass, Thumb contracture, Abnormal foot morphology, Abnormal hip joint...	ORPHA:171929
Singleton-Merten Syndrome 1	Aortic arch calcification, Osteopenia, Shallow acetabular fossae, Expanded metatarsals with widen...	OMIM:182250
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinova...	OMIM:602398
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Talipes equinovarus, Deep palmar crease, Adducted thumb, Clinodactyly of the 5th finger, Proximal...	OMIM:604314
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
16P13.11 Microdeletion Syndrome	Talipes equinovarus, Metatarsus valgus, Camptodactyly of finger	ORPHA:261236
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Talipes equinovarus, Joint contracture, Cam...	OMIM:617403
Juvenile Sialidosis Type 2	Low-set ears, Protruding tongue, Gingival overgrowth, Hearing impairment	ORPHA:93399
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:293978
Angelman Syndrome	Precocious puberty in females, Widely spaced teeth, Delayed menarche, Wide mouth, Protruding tong...	ORPHA:72
Adult-Onset Still Disease	Arthritis, Joint swelling, Cartilage destruction, Arthralgia/arthritis	ORPHA:829
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Genu valgum, Limited elbow extension, Broad long bone diaphyses, Talipes equino...	OMIM:301066
Congenital Disorder Of Glycosylation, Type 2V	Talipes equinovarus	OMIM:619493
Congenital Myopathy 13	Skeletal muscle atrophy, Weakness of facial musculature, Fatty replacement of skeletal muscle, In...	OMIM:255995
Renal-Hepatic-Pancreatic Dysplasia 2	Talipes equinovarus, Femoral bowing	OMIM:615415
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epiphyseal stippling, Single transverse palmar crease, Talipes equinovarus, Cubitus valgus, Metat...	OMIM:614866
Cloacal Exstrophy	Abnormal tibia morphology, Talipes equinovarus, Abnormal fibula morphology, Omphalocele, Absent f...	ORPHA:93929
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Osteochondrosis, Abnormal cartilage morphology	ORPHA:2396
Craniofacial Microsomia 1	Atresia of the external auditory canal, Unilateral external ear deformity, Underdeveloped tragus,...	OMIM:164210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Cataract, Hypertrichosis, Overlapping toe...	ORPHA:480880
Isolated Exencephaly	Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Maternal diabetes, Anterior ...	ORPHA:563612
Parkinsonian-Pyramidal Syndrome	Talipes equinovarus, Hypomimic face	ORPHA:171695
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Cerebrooculonasal Syndrome	Sparse eyebrow, Sparse eyelashes, Postaxial polydactyly, Postaxial hand polydactyly, Craniosynost...	OMIM:605627
Giant Cell Arteritis	Conductive hearing impairment, Hearing impairment, Vertigo, Arthritis, Glossitis	ORPHA:397
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Wolf-Hirschhorn Syndrome	Short thumb, Abnormal foot morphology, Preaxial hand polydactyly, Congenital diaphragmatic hernia...	ORPHA:280
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Death in early adultho...	ORPHA:904
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Cryptorchidism, Protruding tongue, Everted lower lip vermilion, Abno...	ORPHA:96147
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Talipes equinovarus, Forearm reduction defec...	OMIM:268400
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Elevated circulating calcitonin conce...	ORPHA:653
Classical Ehlers-Danlos Syndrome	Osteopenia, Cigarette-paper scars, Aortic root aneurysm, Abnormal foot morphology, Umbilical hern...	ORPHA:287
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concentration, Carpal...	OMIM:201750
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon, Bil...	ORPHA:1051
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp...	ORPHA:158668
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Developmental And Epileptic Encephalopathy 31B	Low-set ears, Gingival overgrowth, Protruding tongue	OMIM:620352
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Graves d...	ORPHA:227982
Alstrom Syndrome	Alopecia, Subcapsular cataract, Polydactyly, Scoliosis, Kyphosis	OMIM:203800
Reactive Arthritis	Inflammation of the large intestine, Recurrent aphthous stomatitis, Joint swelling, Arthritis, Ca...	ORPHA:29207
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Cupped ear, Hearing impairment, Short uvula, Ankyloglossia, Genu valgum, Oti...	OMIM:619475
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ...	OMIM:157170
Abetalipoproteinemia	Osteopenia, Pes cavus, Myopathy, Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:14
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Alkaptonuria	Joint dislocation, Calcification of cartilage, Hearing abnormality, Thickened Achilles tendon, Jo...	ORPHA:56
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Pes cavus, Submucous cleft hard palate, Talipes valgus	OMIM:618891
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Retrognathia, Increased circulating prolactin concentration, Cryptorchidism, ...	ORPHA:438213
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Palmar hyperkeratosis, ...	OMIM:615726
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Anterior...	ORPHA:227990
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Acrodermatitis Enteropathica	Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis	ORPHA:37
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Talipes cavus equinovarus, Short digit, Postnatal growth retardation	OMIM:300966
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Carious teeth, Foot joint contracture, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narro...	ORPHA:79408
Rett Syndrome, Congenital Variant	Talipes equinovarus, Pes planus	OMIM:613454
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Umbilical hernia, Atrophic scars, Diastasis recti, Arachnodactyly, Talipes equinovarus, Distal ar...	OMIM:601776
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Micrognathia, Protruding tongue	ORPHA:98889
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Tibial torsion, Postnatal growth retardation, Talipes equinovarus, Long toe, Pes ...	OMIM:613355
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Anterior cr...	ORPHA:116
Iniencephaly	Rhizomelia, Congenital diaphragmatic hernia, Talipes equinovarus, Omphalocele, Rocker bottom foot...	ORPHA:63259
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Broad distal phalanx of finger, Broad thumb, Trichiasis, Broad hallux, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Broad distal phalanx of finger, Broad thumb, Trichiasis, Broad hallux, Abn...	ORPHA:353277
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pulmonary artery atresia, Talipes equinovarus, Limb hypertonia, Finger joint hypermobility, Hamme...	OMIM:620371
Microcephaly 26, Primary, Autosomal Dominant	Gingival overgrowth, Protruding tongue, Long philtrum	OMIM:619179
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Short thumb, Decreased muscle mass, Preaxial hand polydactyly...	OMIM:194190
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Knee flexion contracture	OMIM:620454
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters, Enamel hypoplasia, Craniosynostosis	ORPHA:79396
Otosclerosis 4	Mixed hearing impairment, Otosclerosis	OMIM:611571
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Talipes equinovarus, Tapered finger	OMIM:613603
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Geographic tongue, Pedal edema	ORPHA:247353
Limb Body Wall Complex	Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Diastas...	ORPHA:2369
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Craniosynostosis	OMIM:601374
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bilateral talipes equinovarus, Overlapping fingers, Knee flexion contracture	OMIM:619708
X-Linked Intellectual Disability, Nascimento Type	Clubbing of toes, Peripheral pulmonary artery stenosis, Overlapping toe, Pes cavus, Bilateral tal...	ORPHA:163956
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Hearing impairment, Erythematous oral mucosa	OMIM:158310
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Overlapping toe, Reduced subcutaneous adipose tissue, Knee flexion contracture, T...	OMIM:617402
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Ventral hernia, Omphalocele, Ca...	OMIM:200110
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Multiple suture craniosynostosis, Umbilical hernia, Abnormal den...	ORPHA:567
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Agel Amyloidosis	Tongue atrophy, Xerostomia, Hearing impairment	ORPHA:85448
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Long fingers, Bilateral talipes equinovarus, Clinodactyly of the 5th ...	OMIM:619512
Otosclerosis 10	Otosclerosis	OMIM:615589
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue, Abnormality of the temporomandibular joint	ORPHA:258
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Cigarette-paper scars, Cystocele, Metacarpophalangeal joint hyperextensibili...	OMIM:130050
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Cupped ear, Delayed eruption of teeth, W...	OMIM:235730
Neurooculorenal Syndrome	Talipes equinovarus, Short hallux, Short 1st metacarpal, Postnatal growth retardation	OMIM:620305
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Shoulder girdle mus...	ORPHA:273
Tetrasomy 9P	Small hand, Umbilical hernia, Abnormal dental enamel morphology, Juxtaductal coarctation of the a...	ORPHA:3310
8P11.2 Deletion Syndrome	Talipes equinovarus	ORPHA:251066
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Microphthalmia, Syndromic 1	Joint contracture of the hand, Microcornea, Prominent fingertip pads, Clinodactyly, Radial deviat...	OMIM:309800
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Renal Agenesis	Talipes equinovarus	ORPHA:411709
Costello Syndrome	Deep plantar creases, Limited elbow movement, Talipes equinovarus, Deep palmar crease, Achilles t...	OMIM:218040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Microsporidiosis	Abnormality of the parathyroid gland, Sinusitis, Adrenocortical abnormality, Glossitis, Thyroiditis	ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Pes planus, Supernumerary tooth	OMIM:619525
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Coarctation of aorta, Omphalocele, Bilateral talipes equinovarus, Hyp...	OMIM:306955
Kawasaki Disease	Strawberry tongue, Plantar edema, Lip fissure, Palmar edema, Arthritis, Glossitis, Cheilitis	ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 38	Talipes equinovarus	OMIM:616393
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Pulmonary artery aneurysm, Cigarette-paper scars, Aortic dissection, ...	ORPHA:286
Fanconi Anemia, Complementation Group L	Bilateral talipes equinovarus, Absent thumb, Absent radius	OMIM:614083
Sotos Syndrome	Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda...	ORPHA:821
Sacral Defect With Anterior Meningocele	Bilateral talipes equinovarus, Sacral lipoma	OMIM:600145
Oeis Complex	Talipes equinovarus, Congenital hip dislocation, Omphalocele	OMIM:258040
Plague	Inflammation of the large intestine, Hearing impairment, Chapped lip, Ileitis, Enterocolitis, Art...	ORPHA:707
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Knee dislocation, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndac...	OMIM:619534
Choreoacanthocytosis	Peroneal muscle atrophy, Temporomandibular joint crepitus, Equinovarus deformity, Absent Achilles...	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

Eye Morphology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pitx1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data