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Gene: Vps25 MGI:106354

Gene Summary

Name:

vacuolar protein sorting 25

Synonyms:

1110020N13Rik, D11Wsu68e

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
embryonic lethality prior to tooth bud stage	Vps25^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
embryonic lethality prior to organogenesis	Vps25^{tm1.1(KOMP)Vlcg}	HOM	E9.5	0.00
abnormal embryo size	Vps25^{tm1.1(KOMP)Vlcg}	HET	E9.5	0.00
preweaning lethality, complete penetrance	Vps25^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased lean body mass	Vps25^{tm1.1(KOMP)Vlcg}	HET	Early adult	6.58×10^-05
increased total body fat amount	Vps25^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.07×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Cerebellum	Section images	heterozygote	100% (2 of 2)
Hippocampus	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	50% (1 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	100% (1 of 1)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	50% (1 of 2)
Stomach	N/A	heterozygote	50% (1 of 2)
Striatum	N/A	heterozygote	50% (1 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	33.33% (2 of 6)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	33.33% (2 of 6)
Embryo	N/A	heterozygote	100% (6 of 6)
Eye	N/A	heterozygote	33.33% (2 of 6)
Footplate	N/A	heterozygote	33.33% (2 of 6)
Forebrain	N/A	heterozygote	33.33% (2 of 6)
Forelimb	N/A	heterozygote	33.33% (2 of 6)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	33.33% (2 of 6)
Head	N/A	heterozygote	33.33% (2 of 6)
Heart	N/A	heterozygote	33.33% (2 of 6)
Hindbrain	N/A	heterozygote	33.33% (2 of 6)
Hindlimb	N/A	heterozygote	33.33% (2 of 6)
Liver	N/A	heterozygote	33.33% (2 of 6)
Lung	N/A	heterozygote	33.33% (2 of 6)
Mandibular process	N/A	heterozygote	33.33% (2 of 6)
Maxillary process	N/A	heterozygote	33.33% (2 of 6)
Midbrain	N/A	heterozygote	33.33% (2 of 6)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	33.33% (2 of 6)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	33.33% (2 of 6)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	Ambiguous
Tail	N/A	heterozygote	33.33% (2 of 6)
Trachea	N/A	heterozygote	Ambiguous
Urinary system	N/A	heterozygote	Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

2 Images

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Human diseases caused by Vps25 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 Vps25 (0 diseases)
Human diseases predicted to be associated with Vps25 (972 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vps25 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Abnormal earlobe mor...	OMIM:186350
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol...	OMIM:617927
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Malar...	ORPHA:217340
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly	ORPHA:1277
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Patent ductus arter...	OMIM:618142
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di...	OMIM:155050
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Round ear	ORPHA:1450
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short...	OMIM:118651
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening,...	OMIM:615984
Acrocephalopolydactyly	Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel...	ORPHA:93329
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnorma...	ORPHA:2370
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp...	ORPHA:1529
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Hearing impairment, Micrognathia, Capitate-hamate fusion, Sho...	OMIM:614078
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Cryptorchidism, Preaxial hand polydactyly, Large hands, Decreased testicular size	ORPHA:85287
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Micrognathia, Patent d...	ORPHA:261120
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal...	ORPHA:969
Trisomy 4P	Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Carious teeth...	ORPHA:1738
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario...	OMIM:617102
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Overfolded hel...	ORPHA:79113
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Atelosteogenesis, Type Ii	Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof...	OMIM:256050
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme...	ORPHA:2639
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses...	ORPHA:166002
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment,...	OMIM:616910
Frontonasal Dysplasia 1	Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplas...	OMIM:136760
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Pear-shaped nose, Preaxial hand polydactyly, Interphalangeal joint contracture of finger	OMIM:606242
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal antihelix morphology, Microtia,...	ORPHA:2145
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Crypt...	ORPHA:85279
Orofaciodigital Syndrome Xvii	Prominent nose, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cen...	OMIM:617926
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Posteriorly rotated ears, Delayed eruption of permanent tee...	OMIM:618506
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel...	ORPHA:2378
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Elbow flexion contract...	OMIM:616809
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Ara...	ORPHA:1716
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab...	ORPHA:3429
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Keipert Syndrome	Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop...	ORPHA:2662
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Low-set ears, Ma...	ORPHA:1832
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Prominent nose, Cryptorchidism...	OMIM:616300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Flattened epiphy...	OMIM:607131
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Depressed nasal bridge, Sandal gap, Micrognathia, Elbow dislocation, T...	OMIM:108721
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,...	ORPHA:171839
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Large earlobe, Hip dysplasia, Cli...	OMIM:617991
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidis...	ORPHA:93328
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop...	OMIM:614524
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal...	ORPHA:2547
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Depressed nasal bridg...	ORPHA:90652
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Joubert Syndrome 10	Low-set ears, Wide nasal bridge, Postaxial polydactyly	OMIM:300804
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Bowing of the long bones, Depressed nasal bridge, Camptodactyl...	ORPHA:628
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Low-set ears, Clinodactyly of the 5th finger, Short nose	ORPHA:217385
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Posteriorly rotated ears, Metaphyseal widening, Irregular epip...	OMIM:612813
Pierpont Syndrome	Wide nose, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Shor...	OMIM:602342
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism, Low-set ears	ORPHA:85173
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Micro...	ORPHA:261295
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Single transverse palmar crease, Hearing impairment, Micrognathia, Posteriorly ...	OMIM:613604
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly	OMIM:618618
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M...	ORPHA:1508
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent...	ORPHA:65759
C Syndrome	Short metacarpal, Toe syndactyly, Anteverted nares, Posteriorly rotated ears, Micromelia, Microgn...	OMIM:211750
Mohr Syndrome	Syndactyly, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Preaxial hand polydactyly, ...	OMIM:252100
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism...	OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Bulbou...	OMIM:615761
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ...	ORPHA:1458
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Femoral-Facial Syndrome	Short femur, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morphology, Abnormal pelvic...	ORPHA:1988
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Attached earlobe, Scapular winging, Toe syndactyly, Depressed nasal bridge, Anteve...	ORPHA:1327
Orofaciodigital Syndrome Viii	Syndactyly, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia	OMIM:300484
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp...	ORPHA:2496
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Micrognathia, Posteriorly rotated ea...	OMIM:618529
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip...	OMIM:241800
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Large earlobe, Low-set ears, Clinodactyly, ...	OMIM:617752
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo...	ORPHA:1597
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Bro...	ORPHA:2754
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:617507
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Bardet-Biedl Syndrome 4	Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Overhanging nasa...	OMIM:619142
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism, Short no...	ORPHA:1695
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Posteriorly rotated ears, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus art...	OMIM:613870
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse...	OMIM:613320
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Low-set...	ORPHA:1895
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited elbow extension,...	OMIM:180870
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Underde...	ORPHA:2083
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Depressed nasal bridge, Micromelia, Dumbbell-shaped long bone, Hypopla...	OMIM:151210
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia	ORPHA:1514
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia, Sensorineural hearing impairment	OMIM:618379
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Carious teeth, Cryptorch...	ORPHA:2701
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Hearing impairment, Anosmia, Epiphyseal stippling, Short nose, Short nasa...	OMIM:302950
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Postaxial polydactyly, Micrognath...	OMIM:617925
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip	ORPHA:2776
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ...	ORPHA:776
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol...	ORPHA:178303
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Protruding ear, Camptodactyly of finger, Micrognathia	ORPHA:1495
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,...	OMIM:166250
Lambotte Syndrome	Retrognathia, Atresia of the external auditory canal, Preaxial foot polydactyly, Macrotia, Convex...	OMIM:245552
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set, posteriorly rotated ears, Mandibular prognathia, Rhizomelia, Posteriorly rotated ears, A...	ORPHA:171866
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Duane-Radial Ray Syndrome	Syndactyly, Abnormal nasopharynx morphology, Hypoplasia of the ulna, Radial deviation of the hand...	OMIM:607323
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal ...	ORPHA:245
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Clinodactyly of t...	OMIM:619736
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu...	ORPHA:1035
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Aplasia/Hypoplasia of t...	ORPHA:1702
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Prominent ...	ORPHA:1307
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hearing impairment, Epi...	ORPHA:1914
Chromosome 3Pter-P25 Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Tapered finger...	OMIM:613792
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca...	OMIM:108720
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Wide nasal bridge, ...	OMIM:618577
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Prominent nasal bridge, Abnormal pinna morphology, P...	ORPHA:313781
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Simple ear...	OMIM:602471
Bardet-Biedl Syndrome 16	Polydactyly, Hearing impairment	OMIM:615993
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus, Postaxial foot polyd...	OMIM:615996
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Sensor...	OMIM:609616
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Low-set ears, Camptodact...	OMIM:610015
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Achondroplasia	Depressed nasal bridge, Anteverted nares, Rhizomelia, Hip joint hypermobility, Bowing of the legs...	ORPHA:15
Perlman Syndrome	Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Wide nasal bridge, Low-...	ORPHA:2849
Acromelic Frontonasal Dysostosis	Syndactyly, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Preaxial polydactyly, Wide nasal br...	OMIM:603671
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Brachydactyly, Acromesomelia	ORPHA:40
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd...	OMIM:610536
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Lo...	OMIM:613443
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm...	ORPHA:93351
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bilateral cryptorchidism, Bulbous nose, 2-3 toe syndactyly, Large ...	ORPHA:485405
Biemond Syndrome Ii	Preaxial hand polydactyly	OMIM:210350
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, H...	ORPHA:2635
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte...	OMIM:200600
Aarskog-Scott Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Anteverted nares...	ORPHA:915
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W...	ORPHA:2107
Stromme Syndrome	Prominent nasal bridge, Micrognathia, Preaxial polydactyly, Wide nasal bridge, Short columella, S...	OMIM:243605
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Low-set ears	ORPHA:46
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism...	OMIM:619859
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ...	ORPHA:1427
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Abnormality of the hand, Abnorma...	ORPHA:1842
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridg...	ORPHA:1512
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus, Short nose	ORPHA:93298
Achondrogenesis Type 1A	Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Short nose	ORPHA:93299
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr...	ORPHA:457395
Chromosome 6Q11-Q14 Deletion Syndrome	Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidis...	OMIM:613544
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ...	OMIM:166300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Underfolded ...	OMIM:618316
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypopl...	OMIM:249620
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Fla...	OMIM:184260
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Low-set ears, Short nose	OMIM:613885
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hearing impairment, Hypoplasia of the maxi...	OMIM:620099
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Cryptorchidism, Low-set ears...	OMIM:614732
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact...	OMIM:619143
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ...	ORPHA:391372
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares	ORPHA:531
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Underdevel...	OMIM:257850
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnormal epiphysis morphology, Abnor...	ORPHA:90653
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Syndactyly, Depressed nasal bridge, Polydactyly	OMIM:602501
Toluene Embryopathy	Micrognathia, Tapered finger, Cryptorchidism, Protruding ear, Hypoplasia of the zygomatic bone, L...	ORPHA:1920
Joubert Syndrome 40	Depressed nasal bridge, Postaxial polydactyly	OMIM:619582
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Protr...	OMIM:614976
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Posteriorly rotated ears, Micromelia, Bowing of the legs, Hypoplastic ilia, Cry...	ORPHA:1865
Al-Raqad Syndrome	Short nose, Sandal gap, Low-set ears, Brachydactyly	OMIM:616459
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morpho...	ORPHA:1295
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Johnson Neuroectodermal Syndrome	Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Protruding ear,...	ORPHA:2316
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with...	OMIM:608154
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Protruding ear	ORPHA:231140
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin...	OMIM:616723
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tap...	ORPHA:435638
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyl...	OMIM:616546
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Abnormality of the elbow, Fla...	ORPHA:163649
Rhiny	Short nose, Anteverted nares	OMIM:180360
3Mc Syndrome 3	Abnormal pinna morphology, Cryptorchidism, Preaxial polydactyly, Radioulnar synostosis, Auricular...	OMIM:248340
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplas...	OMIM:617895
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Hearing impair...	OMIM:616331
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Hearing impairmen...	OMIM:618619
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Depressed nasal bridge, Single transverse palmar crease, Ant...	OMIM:618870
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Conductive hearing im...	ORPHA:93262
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Nephronophthisis 15	Polydactyly	OMIM:614845
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mic...	OMIM:311900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Anteverted nares, Fractured radius, Posteriorly rotated ears, Decreased fibular diam...	OMIM:616897
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Short thumb, Crypt...	ORPHA:401935
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Single transverse palmar crease, Sandal gap, Tapered fi...	OMIM:617061
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Hearing impairment, Cryptorchidism, Wide nasa...	OMIM:618950
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Micrognathia	OMIM:614120
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurren...	ORPHA:3078
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,...	OMIM:210720
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Retrognathia,...	OMIM:616462
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wid...	OMIM:224410
Trisomy 12P	Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Large hands, Low-set ears, Clinod...	ORPHA:1699
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Prominent fingertip pads, Short nose, Macrotia	OMIM:300558
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, C...	OMIM:167730
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, S...	OMIM:218000
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Malar ...	OMIM:616420
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ears, Carious t...	ORPHA:1786
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillb...	OMIM:263630
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Protruding ear, Clinodactyly of the 5t...	OMIM:268305
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of th...	ORPHA:794
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Opsismodysplasia	Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic ...	ORPHA:2746
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Long fingers, Patent ductus a...	OMIM:608149
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla...	ORPHA:228396
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Abnormality of the hand, Cryptorchidis...	ORPHA:369891
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc...	ORPHA:2751
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Large earl...	OMIM:615716
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hearing impairment, Hypoplasia of the maxilla, Low-set ears, Clinodactyly, Short dista...	OMIM:614261
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Absent thumb, Micrognathia, Cryptorchidism, Cario...	ORPHA:96097
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Joubert Syndrome 23	Sensorineural hearing impairment, Polydactyly	OMIM:616490
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Pallister-Hall Syndrome	Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Depressed nas...	OMIM:146510
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea...	OMIM:122880
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Macrotia, Depressed nasal bridge	ORPHA:438178
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Conductive hearing impairment, Abnormal metaphysis morphology, Depressed nasal ...	ORPHA:1861
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abn...	ORPHA:1798
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Posteriorly rotated ears, Conductive hearing impa...	OMIM:617877
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Hearing impairment, Abnormal sacroiliac joint morphology, Pat...	ORPHA:2655
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Short nose	OMIM:618087
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss...	OMIM:210710
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Anteverted nares, Polyda...	ORPHA:59315
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Achondrogenesis	Short nose, Anteverted nares, Micromelia, Micrognathia	ORPHA:932
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Microtia, Short nose, Dysplasia of ...	OMIM:616854
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Thickened helices, Bulbous nose, Clinodactyly of ...	OMIM:618828
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Hearing impairment,...	OMIM:619721
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch...	ORPHA:2879
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl...	ORPHA:1452
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Protruding ear, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly...	OMIM:615539
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Posteriorly rotated ears...	OMIM:617822
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Overfolded helix, Low-set ears, Abnormal helix morphology, ...	ORPHA:1913
Baraitser-Winter Syndrome 1	Anteverted nares, Cryptorchidism, Duplication of phalanx of hallux, Patent ductus arteriosus, Sen...	OMIM:243310
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Arachnodactyly, Camptodacty...	ORPHA:83
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Malar flattening	OMIM:600972
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5th toe, Micrognathia, Sens...	ORPHA:391408
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Cario...	OMIM:613026
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodacty...	OMIM:614815
Joubert Syndrome 37	Wide nose, Anteverted nares, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Wid...	OMIM:619185
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip disloca...	ORPHA:453510
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat ...	OMIM:271510
Meier-Gorlin Syndrome 5	Small earlobe, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate...	OMIM:613805
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Cryptorchidism, Low-set ears, Short nose, Macrotia	OMIM:615419
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Nablus Mask-Like Facial Syndrome	Small earlobe, Depressed nasal bridge, Single transverse palmar crease, Anteverted nares, Tapered...	OMIM:608156
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un...	OMIM:615866
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairmen...	ORPHA:2710
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Distal Deletion 9P	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma...	ORPHA:1642
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macrotia	ORPHA:93945
Martsolf Syndrome 1	Short metacarpal, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Metatarsus a...	OMIM:212720
Verheij Syndrome	Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, Short 5th finger, Clinodac...	OMIM:615583
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Short nose, Sandal gap	OMIM:300887
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Opsismodysplasia	Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Posteriorly rotated ears,...	OMIM:258480
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Depressed nasal rid...	ORPHA:1912
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Posteriorly rotated ears, Tapered finger, Bulbous nose, Low-s...	OMIM:618430
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Wrist flexion contracture, Ulnar deviation of the hand or of fingers of th...	OMIM:193700
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd...	ORPHA:1234
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ...	OMIM:616367
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Shor...	ORPHA:96148
Pycnodysostosis	Obtuse angle of mandible, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Hypoplastic il...	ORPHA:763
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Patent ductus arterio...	ORPHA:293939
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Low-set ea...	ORPHA:397590
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Abnormal nasal mor...	ORPHA:404440
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Low-set ears, Short p...	ORPHA:238750
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption...	OMIM:614753
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Anteverted nares, Single transverse palmar crease, Wide nasal bridg...	OMIM:614701
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sensorineural h...	OMIM:614744
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, P...	ORPHA:1120
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide...	ORPHA:363659
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo...	OMIM:215140
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Wide nasal bridge, Retrognathia, Hypoplasia of teeth, Microtia, Sho...	OMIM:620250
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Hip dysplasia, Micrognathia	OMIM:617183
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri...	OMIM:309520
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Mixed hearing impairment, Depressed...	OMIM:259775
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling o...	ORPHA:79345
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear	OMIM:618302
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Underdeveloped nasal alae, Prominent nose, Patent ductus arteriosus, Aplasia/Hypoplas...	ORPHA:2637
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg...	ORPHA:251071
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan...	OMIM:224400
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short ...	OMIM:601559
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Posteriorly rotated...	OMIM:227330
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hearing impairment, Hy...	ORPHA:1860
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ge...	OMIM:620072
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Cupped ear, Depres...	OMIM:156200
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Posteriorly rotated ears, Micrognathia, Retrognathia, Low-set ears, Short nose, Thick nasal alae	ORPHA:163961
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing...	ORPHA:2021
Cohen Syndrome	Short metacarpal, Single transverse palmar crease, Prominent nasal bridge, Tapered finger, Microg...	OMIM:216550
Pelger-Huet Anomaly	Depressed nasal bridge, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th meta...	OMIM:169400
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd...	ORPHA:2189
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Posteriorly rotated ears, Long fin...	ORPHA:3309
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Arachnodactyly, Anteverted nares, Broad hallux, Hypoplasia of the maxilla, Bulbous nose, Hip disl...	ORPHA:481152
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasa...	OMIM:616430
Van Maldergem Syndrome 2	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C...	OMIM:615546
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Low-set ears, Short nose	ORPHA:314655
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De...	OMIM:618774
Braddock Syndrome	Posteriorly rotated ears, Missing ribs, Micrognathia, Preaxial hand polydactyly, Overfolded helix	ORPHA:52047
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ...	OMIM:211350
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Depressed nasal bridge, Anteverted nares, Hearing impairment, Micrognathia, Cryptorch...	OMIM:616894
Tetrasomy 18P	Large hands, Short nose, Low-set, posteriorly rotated ears	ORPHA:3307
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:300534
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Wide nose, Broad hallux, Prominent nasal bridge, Micrognathia, Slender...	ORPHA:251028
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge, Camptodacty...	ORPHA:261344
Pterygium Colli, Isolated	Short nose, Protruding ear	OMIM:177990
Peho Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:260565
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption...	ORPHA:819
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Posteriorly rotated ears, Hearing impairment, Tapered finger, Broad nasal ...	OMIM:239300
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia, Postaxial polydactyly	ORPHA:544254
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w...	OMIM:617809
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Tapered finger, Wide nasal bridge, Hydrocele testis, Sh...	OMIM:613603
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular...	ORPHA:1908
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polydactyly, Postaxial hand pol...	OMIM:614175
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Conductive hearin...	ORPHA:561
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Cry...	ORPHA:363528
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Micr...	OMIM:601812
Joubert Syndrome 16	Polydactyly	OMIM:614465
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e...	OMIM:614069
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Scapular winging, Short metacarpal, Anteverted nares, ...	OMIM:272460
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypo...	ORPHA:2673
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Overlapping toe, Wide nasal bridge, Low-set ears, Overlapp...	OMIM:619383
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Ivic Syndrome	Aplastic clavicle, Hearing impairment, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ...	ORPHA:2307
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Micrognathia	ORPHA:2598
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose, Mandibular prognathia, Uplifted earlobe	OMIM:300143
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Sensorineural hearing impairment, Hip dysplasia, Finger join...	ORPHA:544503
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Protruding ear, Depressed nasal bridge, Anteverted nar...	OMIM:613458
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Small hand, Wide nasal bridg...	OMIM:145420
Van Maldergem Syndrome 1	Short fourth metatarsal, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Sensorineural...	OMIM:601390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Posteriorly rotated ears, Coxa valga, Micrognathia, Hammertoe, Hip dyspla...	OMIM:619833
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morpholog...	ORPHA:1784
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Wide nose, Depressed nasa...	ORPHA:192
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Posteriorly rotated...	OMIM:247200
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu valgum, Microtia, Severe sensorineural hearing impairment...	ORPHA:2983
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hearing impairment, Micrognathia, Broad nasal tip, Hypoplasia of the maxil...	OMIM:620157
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Triphalangeal thumb, C...	OMIM:149730
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Underdeveloped nasal a...	OMIM:616007
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Hearing impairment, Tapered finger, Posteriorly rotat...	OMIM:601353
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Broad nasal tip, Metatarsus adductus, Short toe, Bulbous...	ORPHA:3041
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Broad nasal tip, Thickened cortex of long bones, Small hand, Depressed...	ORPHA:488434
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Slender long bone, Mic...	OMIM:613804
Tarp Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Anteverted nares, Single tra...	ORPHA:2886
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Proxi...	ORPHA:168549
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Posteriorly rotated ears, Abnormal pinna morphology, Bowing of...	OMIM:269860
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Depressed nasal bridge, Broad hallux, Bowed hum...	OMIM:618019
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Prominent nasal bridge, Hearing impairment, Underdeveloped nasal alae, Aplasia of ...	ORPHA:364577
Joubert Syndrome 27	Polydactyly	OMIM:617120
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered finger, P...	OMIM:300968
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Hearing impairment, Patent ductus arteriosus, Abnormal metaph...	ORPHA:93274
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Choanal stenosis, Conductive hearing impairment, Abnormality of the wrist, Elbow ...	ORPHA:95699
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Lim...	OMIM:166210
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size	ORPHA:93950
Developmental Malformations-Deafness-Dystonia Syndrome	Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears...	OMIM:618571
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Short nose, Macro...	OMIM:614225
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un...	OMIM:615485
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari...	OMIM:164200
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Protruding ear, C...	ORPHA:2031
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ...	OMIM:614105
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r...	ORPHA:2399
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Patent du...	ORPHA:251061
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micromelia, Abnormality of the nose, M...	ORPHA:35107
Lowry-Maclean Syndrome	Choanal atresia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Hypopla...	ORPHA:2409
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorchidism, Abnormal f...	ORPHA:1812
3C Syndrome	Finger syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Wide nasal bridge, Hand po...	ORPHA:7
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Short nose	ORPHA:496790
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Prominent nasal bridge, Sandal gap, Tapered finger, Micrognath...	ORPHA:193
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Micrognathia, Bulbous nose, ...	OMIM:614114
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelv...	OMIM:302960
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres...	ORPHA:87
Hogue-Janssen Syndrome 2	Broad hallux, Anteverted nares, Postaxial polydactyly, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short nose, Adducted thumb	ORPHA:50810
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Congenital se...	ORPHA:500159
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Low-set ears, Malar flattenin...	ORPHA:357001
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr...	OMIM:180700
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hip dysplasia, Polydactyly, Wide nasal ridge	ORPHA:531151
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,...	OMIM:613803
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Micrognathia, Cryptorchid...	OMIM:615948
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Mend Syndrome	Microretrognathia, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Posterior...	OMIM:300960
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape...	OMIM:200990
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Protruding ear	OMIM:618737
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Patent ductus arteriosus, Abnormal metacarpal morphology, Conductive h...	ORPHA:2095
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing...	OMIM:109120
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Sensorineural ...	ORPHA:560
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Limb undergrowth, Short nose, Retro...	OMIM:618005
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Cryptorchidism, Humeroradial synos...	OMIM:134780
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Tapere...	OMIM:301040
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Narrow pelvis bone, Ha...	OMIM:608022
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Posteriorly rotated ears, Micrognathia, P...	OMIM:602398
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Patent ductus arteriosus, Wide nasal bridge, 2-3 toe syndactyly, Palmo...	OMIM:106260
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Long palm, Prominent nasal bridge	OMIM:300676
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Patent ductus a...	OMIM:614080
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Slender long bone, Cubitus valgus, Short nose	ORPHA:1185
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Anteverted nares, Camptodactyly of finger, ...	ORPHA:261318
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Short ...	OMIM:263650
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, Short p...	OMIM:224690
Donnai-Barrow Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme...	OMIM:222448
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Deep palmar...	OMIM:616638
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Broad nasal tip, Patent d...	ORPHA:354
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia	OMIM:602196
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the el...	ORPHA:3015
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu...	ORPHA:140
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5...	ORPHA:3103
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Acromelic Frontonasal Dysplasia	Broad nasal tip, Bifid nasal tip, Cryptorchidism, Patellar hypoplasia, Bifid nose, Talipes equino...	ORPHA:1827
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Frontorhiny	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti...	ORPHA:391474
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Long nose, Cryptorchidism, Carious teeth, Camptodactyly, Clinodactyly...	OMIM:617602
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, Depressed nasal ridge, Conductive hearing impairment, Aplasia/Hypoplasi...	ORPHA:2753
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Tape...	OMIM:601088
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Small cervical vertebral bodies, Abnormal acetabulum morpholog...	ORPHA:397715
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Short nose, Depressed nasal bridge, Hip dislocation	OMIM:608776
Geleophysic Dysplasia 1	Anteverted nares, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital femoral epiphysi...	OMIM:231050
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Osteolytic defects of the distal phalanges...	OMIM:608612
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, Wide nasal br...	OMIM:619124
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Conductive hearing impairment, Clinodac...	ORPHA:264450
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Autosomal Recessive Robinow Syndrome	Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synosto...	ORPHA:1507
Robinow Syndrome	Micrognathia, Syndactyly, Depressed nasal bridge, Anteverted nares, Persistence of primary teeth,...	ORPHA:97360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Malar flattening...	OMIM:242860
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Macrotia, Wide nasal bridge, Short nose	OMIM:620292
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short long bone, Meso...	OMIM:616229
Trisomy 10P	Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the hand, Abnormality...	ORPHA:171929
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold,...	OMIM:209885
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Mic...	ORPHA:476126
Peho Syndrome	Anteverted nares, Tapered finger, External ear malformation, Malar flattening, Short nose, Macrotia	ORPHA:2836
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchidism, Sensorineural ...	ORPHA:261236
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Dpm1-Cdg	Depressed nasal bridge, Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases	OMIM:611936
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia...	ORPHA:306542
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho...	ORPHA:93352
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Low-s...	ORPHA:175
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Single transverse pal...	ORPHA:521426
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Malar flatte...	OMIM:241310
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Patent ductus arteriosus, Bulb...	ORPHA:284169
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Thickened ears	ORPHA:79134
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Sensorineural hearing impairment, Depressed nasal bridge, Postaxial polydactyly	OMIM:615824
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Micrognat...	OMIM:200980
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact...	OMIM:617527
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Posteriorly rotat...	OMIM:618454
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Anteverted nares, Camptodactyly of finger, Micrognathia...	ORPHA:2462
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-3 toe sy...	OMIM:618162
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Larg...	ORPHA:2636
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s...	OMIM:617802
Omodysplasia 1	Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Mala...	OMIM:258315
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali...	ORPHA:261112
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, Cli...	OMIM:618332
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Cerebrofacioarticular Syndrome	Syndactyly, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Wide nas...	ORPHA:314679
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet...	ORPHA:37553
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Patent ...	OMIM:192350
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Marshall-Smith Syndrome	Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Choanal stenosis, Clinodacty...	OMIM:602535
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Mic...	ORPHA:2554
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Anteverted nares, Posteriorly rotated ears, Micrognathia, Metatarsus adductus, Cr...	OMIM:182212
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Choanal Atresia	Nasal congestion, Chronic sinusitis, Polydactyly	ORPHA:137914
Down Syndrome	Brachydactyly, Depressed nasal bridge, Sandal gap, Conductive hearing impairment, Depressed nasal...	ORPHA:870
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Brachydactyly, Overlapping toe, Single transverse palmar creas...	ORPHA:221120
Warburg Micro Syndrome 3	Micrognathia, Clinodactyly of the 5th finger, Short nose, Macrotia, Decreased testicular size	OMIM:614222
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Low-set ears, Clinodactyly of t...	ORPHA:65286
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Micrognathia	OMIM:615042
Faciocardiomelic Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Slender long bone, P...	OMIM:612731
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Micromelia	ORPHA:2772
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix m...	ORPHA:261144
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bulbous nose, Increased femora...	OMIM:609460
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Posteriorly rotated e...	OMIM:605627
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger...	ORPHA:1358
Au-Kline Syndrome	Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal...	OMIM:616580
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Sle...	ORPHA:536467
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge...	OMIM:614749
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypto...	OMIM:613457
Dermotrichic Syndrome	Short nose, Macrotia, Depressed nasal bridge	ORPHA:99688
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutaneous finger synd...	OMIM:211380
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Prominent nose, Micrognathia, Bulbous nose, Sensorineural hearing impairm...	OMIM:301022
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Nicolaides-Baraitser Syndrome	Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan...	OMIM:601358
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Hearing impairment, Micrognathia, Absent radiu...	ORPHA:233
Acrocephalopolydactylous Dysplasia	Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Low-set ears, Short nose	OMIM:200995
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Broad nasal tip, Prominent...	ORPHA:177907
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l...	OMIM:269150
Toriello-Carey Syndrome	Abnormal pinna morphology, Hearing impairment, Micrognathia, Cryptorchidism, Patent ductus arteri...	ORPHA:3338
Dystonia-Deafness Syndrome 1	Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante...	OMIM:303600
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long ...	OMIM:256520
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hypoplasia of ...	OMIM:614800
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Posteriorly rotated ears, Long nose, Slender long bone, Low-set ears, Mal...	OMIM:618590
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Patent ductus arteriosus, W...	ORPHA:1519
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Orofaciodigital Syndrome Type 1	Finger syndactyly, Choanal atresia, Tarsal synostosis, Underdeveloped nasal alae, Micrognathia, P...	ORPHA:2750
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Coxa valga, Micrognathia, Bulbous nose, L...	OMIM:619297
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Decreased palmar creases, Tapered finger, E...	ORPHA:2953
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Posteriorl...	OMIM:213980
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Broad nasal tip, Preaxial hand poly...	ORPHA:1297
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Low-set ears, Malar flattening, Shor...	OMIM:219200
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious...	OMIM:129400
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arterios...	OMIM:617088
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Low-s...	OMIM:615398
Joubert Syndrome 14	Posteriorly rotated ears, Prominent nasal bridge, Postaxial polydactyly, Low-set ears, Malar flat...	OMIM:614424
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Narrow internal audito...	ORPHA:207
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Single transverse palmar cr...	OMIM:244450
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short...	OMIM:615803
Adnp Syndrome	Broad hallux, Depressed nasal bridge, Single transverse palmar crease, Sandal gap, Abnormal toe m...	ORPHA:404448
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Anteverted nares, Low-set ears, Malar flattening, Short nose	OMIM:601853
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Micrognathia, Elbow...	OMIM:620369
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand polydactyly, Postaxi...	ORPHA:46059
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Sensorineural hearing impairm...	OMIM:616541
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus	OMIM:601389
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Depress...	ORPHA:3003
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryp...	OMIM:257300
Jaberi-Elahi Syndrome	Depressed nasal bridge, Protruding ear, Talipes equinovarus, Low-set ears, Hand clenching, Short ...	OMIM:617988
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Overlapping toe, Hearing impairment, Broad nasal tip, Tapered finger, Cry...	OMIM:309590
Myhre Syndrome	Mandibular prognathia, Overlapping toe, Prominent nasal bridge, Hearing impairment, Hypoplasia of...	OMIM:139210
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Patent ductus arteriosus, Hip dysplasia, Enamel hypoplasia, Retrognathia	OMIM:614576
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Preaxial hand polydactyly, Dep...	ORPHA:2211
Ring Chromosome 7 Syndrome	Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Single transverse...	ORPHA:1449
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Sensorineural hearing impairment, Low-set ears, Overlapping fingers, Sho...	OMIM:608779
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Conductiv...	OMIM:122470
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Prominent nose, Bilateral cryptorchidism, Micrognathia, Hypoplas...	OMIM:180849
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Micrognathia, Short toe, Recurrent mandibular subluxations, Low-set ears, Limb undergrowth, Short...	OMIM:225410
Trisomy 18	Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Camptodactyly of finger, C...	ORPHA:3380
Donnai-Barrow Syndrome	Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment	ORPHA:2143
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat...	OMIM:114290
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Posteriorly ro...	OMIM:115150
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Hearing impairment, Underdeveloped nasal alae, Carious teeth, Supe...	OMIM:311200
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Thickened helices, Hypoplasia of the maxilla, Patent du...	OMIM:608328
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Broad palm, Broad ph...	OMIM:277600
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Cryptorchidism, Bulbous nose, Sensorineural h...	ORPHA:488632
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Low-set ears, Short nose, Maxillozy...	ORPHA:1790
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,...	OMIM:301044
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:610829
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Cryptorchidism, Bulbo...	ORPHA:99776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Pate...	ORPHA:280633
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the maxilla, Sensorine...	ORPHA:96129
Alg9-Cdg	Microretrognathia, Low-set, posteriorly rotated ears, Hitchhiker thumb, Ulnar deviation of the ha...	ORPHA:79328
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Hearing impairment, Micrognathia	OMIM:256600
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Simple ear, Postaxial hand polydact...	OMIM:613610
Arterial Tortuosity Syndrome	Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo...	ORPHA:3342
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Stillbirth, Short ribs, Metaphyseal cupping, Short lower limbs	OMIM:241500
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Micromelia	ORPHA:64755
Micro Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bri...	ORPHA:2510
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchid...	ORPHA:1465
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality ...	ORPHA:319182
Chops Syndrome	Anteverted nares, Hearing impairment, Cryptorchidism, Patent ductus arteriosus, Thickened helices...	OMIM:616368
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Cryptorc...	ORPHA:464306
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Small earlobe, Anteve...	OMIM:619522
Aymé-Gripp Syndrome	Depressed nasal bridge, Rocker bottom foot, Posteriorly rotated ears, Tapered finger, Cryptorchid...	ORPHA:1272
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Witteveen-Kolk Syndrome	Proximal placement of thumb, Uplifted earlobe, Protruding ear, Short palm, Clinodactyly of the 5t...	OMIM:613406
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Depressed nasal bridge, Overlapping toe, Conductive hearing impairment, De...	ORPHA:99843
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Palmoplantar kera...	OMIM:604173
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, 2-3 toe syndactyly,...	OMIM:107480
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Wide nose, Short nose, Micrognathia	OMIM:615851
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Abnormal morphology ...	ORPHA:1340
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
C Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micr...	ORPHA:1308
Monosomy 9Q22.3	Delayed eruption of teeth, Palmar pits, Thickened ears, Polydactyly, Low-set ears, Short nose	ORPHA:77301
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones,...	OMIM:109400
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Tibial...	OMIM:231070
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Tapered finger, Cryptorchidism, Post...	OMIM:615873
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Depressed nasal bridge, Tibial bowing, Femoral bowing, Neonatal death, Mesomelia, Pal...	OMIM:616482
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microretrognathia, Aplasia/Hypoplasia of the ribs, Mandibular prognathia, Broad hallux, Overlappi...	ORPHA:508498
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Cryptorchidi...	ORPHA:2719
Waardenburg Syndrome Type 1	Mandibular prognathia, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi...	ORPHA:894
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Cryptorchidism...	OMIM:619005
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Choanal atresia, Hearing impairment, Bowing of the legs, Aplasia/Hypoplasi...	OMIM:617063
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D...	OMIM:236680
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares	ORPHA:884
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:174300
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Antev...	ORPHA:2308
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabia...	ORPHA:357074
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Shortening of all distal ph...	OMIM:614207
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia	ORPHA:1915
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia	OMIM:234050
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Anteverted nares, Short proximal phalanx of the 2nd fin...	ORPHA:261323
Pallister-Hall Syndrome	Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Low-set, posteriorly rotated ear...	ORPHA:672
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Single transverse palmar crease	ORPHA:79243
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ...	ORPHA:1791
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal...	OMIM:601707
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hearing impairment, Hypoplasia o...	ORPHA:2588
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Cryptorchidism, Talipes equin...	ORPHA:261494
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Missing ribs, Cryptorchidism, Low-set ear...	OMIM:147791
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia,...	ORPHA:3404
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ...	OMIM:613848
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Mandibular prognathia, Congenital hip dislo...	ORPHA:373
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Microtia, Low-set ears, Neonatal death, S...	OMIM:608013
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Micrognathia, Broad nasal tip, Sensorineural hearing impairment, Wide nas...	OMIM:300749
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Po...	OMIM:607330
Gm1-Gangliosidosis, Type Ii	Limb undergrowth, Patent ductus arteriosus, Hypoplastic vertebral bodies, Coxa valga	OMIM:230600
Congenital Sialidosis Type 2	Polydactyly, Low-set ears, Hearing impairment	ORPHA:93400
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Conductive hearing impairment, Disl...	ORPHA:2044
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Anteverted nares, Overlapping toe, Broad nasal tip, Bilateral cryptorchidi...	OMIM:617402
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Wide nose, Mandibular prognathia, Depressed nasal bridge, Broad ...	OMIM:614188
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Polydactyly, Retrognathia, Overhanging nasal tip, Hearing i...	OMIM:619869
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Retrognathia, Hip dysplasia,...	OMIM:619426
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Low-set, posteriorly rotat...	ORPHA:818
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly rotated ears...	ORPHA:800
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Polydactyly, Advanced...	ORPHA:769
Khan-Khan-Katsanis Syndrome	Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micrognathia, Sensorineura...	OMIM:618460
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Conic...	ORPHA:289
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Microm...	ORPHA:1675
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Dental ma...	ORPHA:1855
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyl...	ORPHA:199
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Hearing impairment	ORPHA:782
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose, Micrognathia	OMIM:266810
Prolidase Deficiency	Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia	OMIM:170100
Ablepharon Macrostomia Syndrome	Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped...	ORPHA:920
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Hearing impairment, Short palm, Short nose, Brachydactyly	ORPHA:3339
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Broad hallux phalanx, Anteverted nares, Single transverse palm...	ORPHA:363611
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Hearing impairment, Postaxial hand polydactyly, Postaxial foot...	OMIM:209900
Cadds	Short nose, Sensorineural hearing impairment, Micrognathia	ORPHA:369942
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Overfolded helix, Low-set ears	OMIM:613735
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Micr...	ORPHA:2282
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Protruding ear, Microtia, Short middle phalanx of finger, Clinodactyly of...	OMIM:301030
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Hypopla...	OMIM:252500
Stickler Syndrome	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, Micrognathia, Hypo...	ORPHA:828
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge, Hearing impa...	OMIM:601499
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Depressed n...	OMIM:312870
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Single transverse...	OMIM:607932
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Short nose, Macrotia, Broad thumb	ORPHA:109
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Hearing impairment...	ORPHA:444077
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Finger syndactyly, Preaxial hand polydactyly, Cryptorchidism, ...	ORPHA:887
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Short nose, Congenital hip dislocation, Contracture of the proximal interphalangeal...	ORPHA:457279
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D...	ORPHA:3044
Degcags Syndrome	Prominent nose, Micrognathia, Syndactyly, Anteverted nares, Short thumb, Cryptorchidism, Patent d...	OMIM:619488
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose	OMIM:613038
Geleophysic Dysplasia 2	Cone-shaped epiphysis, Short nose, Short foot, Short palm	OMIM:614185
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Microre...	OMIM:300855
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Tapered finger...	ORPHA:268261
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short...	OMIM:617157
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Abnormality of the stapes, Overlapping toe, Broad nasal tip, Micrognat...	ORPHA:798
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Prominent nose, Low-set, posteriorly rotated ears, Depressed nasal br...	ORPHA:480880
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Dental malocclusion, Micrognathia	ORPHA:329178
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Atresia of the external auditory canal, Conduct...	OMIM:123500
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Natal tooth, Camptodactyly of finger, Postaxial polydactyly...	OMIM:249000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Conductive hearing impairment, Syndactyly, Broad hallux, Cryptorchidism, Patent duc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Conductive hearing impairment, Syndactyly, Broad hallux, Cryptorchidism, Patent duc...	ORPHA:353277
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Microgn...	ORPHA:280
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Mandibular prognath...	ORPHA:1299
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux, Micrognathia, ...	OMIM:194190
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Low-set ears	OMIM:103050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Choanal atresia, Hypoplasia ...	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Toe syndactyly, Choanal atresia, Broad nasal tip, Hypoplasia of ...	OMIM:129900
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural hearing impairment, Abnormal ...	ORPHA:2315
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Microretrogn...	OMIM:270400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Ulnar ...	ORPHA:1101
Slc39A8-Cdg	Elbow flexion contracture, Cutaneous syndactyly of toes, Low-set ears, Limb undergrowth, Hearing ...	ORPHA:468699
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Conductive hearing im...	OMIM:113620
Treacher-Collins Syndrome	Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cryp...	ORPHA:861
Culler-Jones Syndrome	Cryptorchidism, Postaxial polydactyly	OMIM:615849
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger clinodactyly, Cli...	ORPHA:508488
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micr...	ORPHA:709
Zttk Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Small hand, Wide nas...	OMIM:617140
Deeah Syndrome	Overlapping fingers, Cryptorchidism, Low-set ears, Prominent nasal tip, Short nose, Retrognathia,...	OMIM:619004
Fontaine Progeroid Syndrome	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia...	OMIM:612289
Meckel Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Micrognathia, Preaxial hand polydact...	ORPHA:564
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Micrognathia, Cryptorchidism, Protruding ear, Low-set ears...	OMIM:618820
Schisis Association	Micromelia	ORPHA:63862
Maternal Uniparental Disomy Of Chromosome 2	Clinodactyly of the 5th finger, Preaxial hand polydactyly, Bilateral cryptorchidism	ORPHA:96179
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis, Hearing i...	OMIM:615108
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Hip dyspl...	ORPHA:2729
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Neu-Laxova Syndrome	Micromelia, Micrognathia, Trismus, Depressed nasal ridge, Retrognathia, Large hands, Macrotia	ORPHA:2671
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Arachnodactyly, Posteriorly rotated ears, Hearing impairment, Cryptorchidism, ...	OMIM:601776
Trichothiodystrophy 1, Photosensitive	Short nose, Macrotia, Retrognathia, Protruding ear	OMIM:601675
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Sandal gap, Posteriorly rotated ears, Broad nasal tip, Long fingers, Wide ...	OMIM:620330
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Abnormal mitochondrial shape, Patent ductus arteriosus, Sensorineural...	ORPHA:17
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal ...	ORPHA:93271
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis, Hearing i...	OMIM:615109
Cleft Velum	Conductive hearing impairment, Hypoplasia of the maxilla	ORPHA:99772
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Hearing impairment, External ear malformation, Preaxial han...	ORPHA:857
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Prominent nasal tip, Short ...	ORPHA:522077
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Patent duct...	OMIM:609942
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding ear, Eruption failure, Short nose	OMIM:230740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Sensorineural ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Sensorineural ...	ORPHA:352665
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Long ear, Broad nasal tip	ORPHA:293948
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ...	OMIM:610828
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Cryptorchidism, Short nose, Abnormal testis morphology, Hearing impairment	ORPHA:96147
Macrocephaly/Autism Syndrome	Hydrocele testis, Short nose, Depressed nasal bridge	OMIM:605309
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose	ORPHA:280200
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Trismus, Metaphyseal widening, Elb...	ORPHA:3206
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Short nos...	OMIM:300661
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis, Hearing i...	OMIM:158350
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of...	OMIM:610682
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Short nose	ORPHA:1394
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Abnormal dental enamel morphology, Mic...	ORPHA:3310
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, Long fingers, Macro...	OMIM:256040
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Carious teeth, Wide nasal bridge, Microtia, M...	ORPHA:93
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Depressed nasal bridge, Anteverted nar...	OMIM:259050
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Camptodactyly of 2nd-5...	OMIM:601803
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Patent duct...	OMIM:610168
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ...	OMIM:229400
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Hypoplasia of the maxilla, Carious teeth, Palmoplantar kera...	ORPHA:1775
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Arachnodactyly, Absent thumb, Hypoplasia of the maxilla, Patent ductus ar...	ORPHA:500150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Hearing impairment	ORPHA:137605
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:105830
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Single transverse palmar crease, Bulbous nose, Cupped ear, Wide nasal bridge, D...	OMIM:619475
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease, Sensorineural hearing impairment	OMIM:614863
Craniofacial Microsomia 1	Micrognathia, Underdeveloped tragus, Hypoplasia of the maxilla, Partial duplication of thumb phal...	OMIM:164210
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis, Anteverted nares	ORPHA:238468
Williams Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormal dental enamel ...	ORPHA:904
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Short nose, Deep palmar crease	ORPHA:505248
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Short nose, Convex nasal ridge, Genu valgum	OMIM:619321
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Patent ductus arteri...	OMIM:619534
Williams-Beuren Syndrome	Hallux valgus, Depressed nasal bridge, Anteverted nares, Down-sloping shoulders, Broad nasal tip,...	OMIM:194050
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Polydactyly, Depressed nasal ridge, Abnormal digit morphology	ORPHA:95494
Penile Agenesis	Posteriorly rotated ears, Depressed nasal bridge, Cryptorchidism, Bilateral talipes equinovarus, ...	ORPHA:49
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Short nose, Tinnitus, Narrow nasal ridge	OMIM:606721
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500

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 Vps25

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Vps25.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ESCRT-dependent control of craniofacial morphogenesis with concomitant perturbation of NOTCH signaling.	Developmental biology (August 2023)	Vps25^{tm1(KOMP)Vlcg}	37573008
ESCRT-II/Vps25 constrains digit number by endosome-mediated selective modulation of FGF-SHH signaling.	Cell reports (October 2014)	Vps25^{tm1(KOMP)Vlcg}	PMC4223648

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MGI Allele	Allele Type	Produced
Vps25^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Vps25^{tm47348(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vps25^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Vps25^{tm290428(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vps25^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vps25 MGI:106354

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Eye Morphology

X-ray

Eye Morphology

X-ray

Adult LacZ

Gross Pathology and Tissue Collection

X-ray

Combined SHIRPA and Dysmorphology

Human diseases caused by Vps25 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data