Polydactyly and Syndactyly Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13099 AHI1 81407,81479 Order Options and Pricing
AKT3 81479,81479
ALDH1A3 81479,81479
ALX3 81479,81479
ALX4 81479,81479
ANKRD11 81479,81479
ARHGAP31 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
ARMC9 81479,81479
ASTN2 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BCO1 81479,81479
BCOR 81479,81479
BHLHA9 81479,81479
BMP4 81479,81479
BMPR1B 81479,81479
CACNA1C 81479,81479
CANT1 81479,81479
CC2D2A 81479,81479
CCBE1 81479,81479
CCND2 81479,81479
CCNQ 81479,81479
CDH1 81406,81479
CDH11 81479,81479
CDH3 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP55 81479,81479
CHST11 81479,81479
CHSY1 81479,81479
CHUK 81479,81479
CIBAR1 81479,81479
CILK1 81479,81479
CKAP2L 81479,81479
CNOT2 81479,81479
COL2A1 81479,81479
CPLANE1 81479,81479
CREBBP 81407,81406
CRIPT 81479,81479
CSPP1 81479,81479
CTU2 81479,81479
DHCR7 81405,81479
DLL4 81479,81479
DLX5 81479,81479
DLX6 81479,81479
DOCK6 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
DYNC2I2 81479,81479
DYNC2LI1 81479,81479
DYNLT2B 81479,81479
EBP 81479,81479
EFNB1 81479,81479
EFTUD2 81479,81479
EOGT 81479,81479
EP300 81479,81479
ESCO2 81479,81479
EVC 81479,81479
EVC2 81479,81479
FAT1 81479,81479
FBLN1 81479,81479
FBN1 81408,81479
FBXW11 81479,81479
FDFT1 81479,81479
FGF16 81479,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FGFR3 81479,81479
FLNA 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
FUZ 81479,81479
GDF5 81479,81479
GJA1 81479,81479
GLI1 81479,81479
GLI2 81479,81479
GLI3 81479,81479
GNAS 81479,81479
GPC3 81479,81479
GREM1 81479,81479
GRHL2 81479,81479
GRIN2B 81479,81479
HOXA1 81479,81479
HOXA13 81479,81479
HOXD12 81479,81479
HOXD13 81479,81479
IFT122 81479,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT43 81479,81479
IFT52 81479,81479
IFT74 81479,81479
IFT80 81479,81479
IFT81 81479,81479
IHH 81479,81479
INPP5E 81479,81479
INTU 81479,81479
IQCE 81479,81479
IRF6 81479,81479
KAT6A 81479,81479
KATNB1 81479,81479
KATNIP 81479,81479
KCTD1 81479,81479
KDM6A 81479,81479
KDM6B 81479,81479
KIAA0586 81479,81479
KIAA0825 81479,81479
KIAA1109 81479,81479
KIF14 81479,81479
KIF7 81479,81479
KMT2A 81479,81479
KMT2D 81479,81479
LMBR1 81479,81479
LRP4 81479,81479
LRP5 81406,81479
LZTFL1 81479,81479
MAB21L2 81479,81479
MAP3K20 81479,81479
MBL2 81479,81479
MED12 81479,81479
MEGF8 81479,81479
MEIS2 81479,81479
MIPOL1 81479,81479
MIR17HG 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MSX1 81479,81479
MYCN 81479,81479
MYH8 81479,81479
NAA10 81479,81479
NECTIN4 81479,81479
NEDD4L 81479,81479
NEK1 81479,81479
NIPBL 81479,81479
NOG 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
OFD1 81479,81479
PAPSS2 81479,81479
PAX3 81479,81479
PCNT 81479,81479
PDE3A 81479,81479
PDE4D 81479,81479
PDE6D 81479,81479
PDGFC 81479,81479
PHF6 81479,81479
PHGDH 81479,81479
PIK3CA 81479,81479
PIK3R2 81479,81479
PITX1 81479,81479
PITX2 81479,81479
PORCN 81479,81479
PPP1R12A 81479,81479
PTDSS1 81479,81479
RAB23 81479,81479
RAD21 81479,81479
RALGAPA1 81479,81479
RECQL4 81479,81479
RIPK4 81479,81479
ROR2 81479,81479
RPGRIP1L 81479,81479
SALL1 81479,81479
SALL4 81479,81479
SBF1 81479,81479
SCN1A 81407,81479
SDCCAG8 81479,81479
SEM1 81479,81479
SETD5 81479,81479
SF3B4 81479,81479
SHH 81479,81479
SLC25A21 81479,81479
SLC25A24 81479,81479
SLC26A2 81479,81479
SMARCAD1 81479,81479
SMC1A 81479,81479
SMC3 81479,81479
SMO 81479,81479
SMOC1 81479,81479
SOX9 81479,81479
SRCAP 81479,81479
STAG2 81479,81479
STKLD1 81479,81479
TBX1 81479,81479
TBX3 81479,81479
TCF12 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TFAP2B 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TNNT3 81479,81479
TP63 81479,81479
TRAF3IP1 81479,81479
TRAPPC6A 81479,81479
TRIM32 81479,81479
TTC21B 81479,81479
TTC26 81479,81479
TTC30B 81479,81479
TTC8 81479,81479
TWIST1 81404,81403
WASHC5 81407,81479
WDPCP 81479,81479
WDR19 81479,81479
WDR35 81479,81479
WDR37 81479,81479
WNT10B 81479,81479
WNT5A 81479,81479
YY1AP1 81479,81479
ZBTB18 81479,81479
ZNF141 81479,81479
ZSWIM6 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13099Genes x (233)81479 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1530 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Congenital polydactyly (also known as hyperdactyly or hexadactyly) is defined as extra fingers or toes. It is one of the most common limb birth defects with an estimated incidence of one in 700–1,000 live births (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795; Ahmed et al. 2017. PubMed ID: 29263957). It is mainly a failure in the control of digit number at cellular and developmental levels (Malik. 2014. PubMed ID: 24020795). It may manifest isolated (non-syndromic) or as part of many syndromic conditions. Polydactyly can be further divided as preaxial (radial), central (axial), and postaxial (ulnar) (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).

Congenital syndactyly is defined as joined fingers or toes by soft tissue or by bone. Syndactyly has an estimated incidence of 1 in 2,000 to 3,000 live births. This condition is caused by failed separation during embryonic development (Ahmed et al. 2017. PubMed ID: 29263957; Tonkin. 2009. PubMed ID: 19380059). It may manifest as an isolated (non-syndromic) case or as part of more than 300 syndromic conditions. Syndactyly can present as unilateral/bilateral, finger/toe; complete or partial (Malik. 2012. PubMed ID: 22333904; Deng and Tan. 2015. PubMed ID: 26069458; Tonkin. 2009. PubMed ID: 19380059).

Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with a variety of syndactyly and polydactyly conditions. Co-features of many of these conditions may require medical attention.

Genetics

This panel combines genes associated with a variety of genetic syndactyly and polydactyly disorders that have been identified through literature, OMIM, and HGMD searches. The patterns of inheritance can be autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) (Al-Qattan. 2019. PubMed ID: 31637260; Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795). Examples include Split-hand/foot malformation (also known as ectrodactyly), FGFR2-related conditions (Apert syndrome, LADD syndrome, and Saethre-Chotzen syndrome), HOXD13-related Syndactyly/polydactyly, Robinow syndrome, TP63-related conditions, Lenz-Majewski hyperostotic dwarfism, Temtamy preaxial brachydactyly syndrome, Squalene synthase deficiency, Filippi syndrome, Roberts syndrome, Metacarpal 4-5 fusion, Bartsocas-Pappas syndrome, Cenani-Lenz syndactyly syndrome, GLI3-related conditions, GLI1-related polydactyly, DHCR7-related Smith-Lemli-Opitz syndrome, and Acrocallosal syndrome.

See individual gene test descriptions for information on molecular biology of gene products, and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, pathogenic variants were found in 18% (36/199) of patients with a genetic etiology of congenital upper limb defects. Among them, 13/199 cases had a copy number variation at the chromosomal level, and 23/199 cases were found to have a pathogenic variant involving a single nucleotide substitution, or small deletion/insertion (Carli et al. 2013. PubMed ID: 24343878).

This test is able to detect both large copy number variation (large deletions and insertions) (CNV) as well as smaller sequence variants (SNVs) with high analytical sensitivity.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients with polydactyly and syndactyly should be considered.

Genes

Official Gene Symbol OMIM ID
AHI1 608894
AKT3 611223
ALDH1A3 600463
ALX3 606014
ALX4 605420
ANKRD11 611192
ARHGAP31 610911
ARL13B 608922
ARL6 608845
ARMC9 617612
ASTN2 612856
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCO1 605748
BCOR 300485
BHLHA9 615416
BMP4 112262
BMPR1B 603248
CACNA1C 114205
CANT1 613165
CC2D2A 612013
CCBE1 612753
CCND2 123833
CCNQ 300708
CDH1 192090
CDH11 600023
CDH3 114021
CEP104 616690
CEP120 613446
CEP164 614848
CEP290 610142
CEP41 610523
CEP55 610000
CHST11 610128
CHSY1 608183
CHUK 600664
CIBAR1 617273
CILK1 612325
CKAP2L 616174
CNOT2 604909
COL2A1 120140
CPLANE1 614571
CREBBP 600140
CRIPT 604594
CSPP1 611654
CTU2 617057
DHCR7 602858
DLL4 605185
DLX5 600028
DLX6 600030
DOCK6 614194
DYNC2H1 603297
DYNC2I1 615462
DYNC2I2 613363
DYNC2LI1 617083
DYNLT2B 617353
EBP 300205
EFNB1 300035
EFTUD2 603892
EOGT 614789
EP300 602700
ESCO2 609353
EVC 604831
EVC2 607261
FAT1 600976
FBLN1 135820
FBN1 134797
FBXW11 605651
FDFT1 184420
FGF16 300827
FGF8 600483
FGFR1 136350
FGFR2 176943
FGFR3 134934
FLNA 300017
FRAS1 607830
FREM1 608944
FREM2 608945
FUZ 610622
GDF5 601146
GJA1 121014
GLI1 165220
GLI2 165230
GLI3 165240
GNAS 139320
GPC3 300037
GREM1 603054
GRHL2 608576
GRIN2B 138252
HOXA1 142955
HOXA13 142959
HOXD12 142988
HOXD13 142989
IFT122 606045
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT52 617094
IFT74 608040
IFT80 611177
IFT81 605489
IHH 600726
INPP5E 613037
INTU 610621
IQCE 617631
IRF6 607199
KAT6A 601408
KATNB1 602703
KATNIP 616650
KCTD1 613420
KDM6A 300128
KDM6B 611577
KIAA0586 610178
KIAA0825 617266
KIAA1109 611565
KIF14 611279
KIF7 611254
KMT2A 159555
KMT2D 602113
LMBR1 605522
LRP4 604270
LRP5 603506
LZTFL1 606568
MAB21L2 604357
MAP3K20 609479
MBL2 154545
MED12 300188
MEGF8 604267
MEIS2 601740
MIPOL1 606850
MIR17HG 609415
MKKS 604896
MKS1 609883
MSX1 142983
MYCN 164840
MYH8 160741
NAA10 300013
NECTIN4 609607
NEDD4L 606384
NEK1 604588
NIPBL 608667
NOG 602991
NPHP1 607100
NPHP3 608002
OFD1 300170
PAPSS2 603005
PAX3 606597
PCNT 605925
PDE3A 123805
PDE4D 600129
PDE6D 602676
PDGFC 608452
PHF6 300414
PHGDH 606879
PIK3CA 171834
PIK3R2 603157
PITX1 602149
PITX2 601542
PORCN 300651
PPP1R12A 602021
PTDSS1 612792
RAB23 606144
RAD21 606462
RALGAPA1 608884
RECQL4 603780
RIPK4 605706
ROR2 602337
RPGRIP1L 610937
SALL1 602218
SALL4 607343
SBF1 603560
SCN1A 182389
SDCCAG8 613524
SEM1 183600
SETD5 615743
SF3B4 605593
SHH 600725
SLC25A21 607571
SLC25A24 608744
SLC26A2 606718
SMARCAD1 612761
SMC1A 300040
SMC3 606062
SMO 601500
SMOC1 608488
SOX9 608160
SRCAP 611421
STAG2 300826
STKLD1 618530
TBX1 602054
TBX3 601621
TCF12 600480
TCTN1 609863
TCTN2 613846
TCTN3 613847
TFAP2B 601601
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TNNT3 600692
TP63 603273
TRAF3IP1 607380
TRAPPC6A 610396
TRIM32 602290
TTC21B 612014
TTC26 617453
TTC30B 0
TTC8 608132
TWIST1 601622
WASHC5 610657
WDPCP 613580
WDR19 608151
WDR35 613602
WDR37 618586
WNT10B 601906
WNT5A 164975
YY1AP1 607860
ZBTB18 608433
ZNF141 194648
ZSWIM6 615951
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acheiropody 200500
Achondrogenesis Type 2 200610
Achondroplasia 100800
Acrocallosal Syndrome, Schinzel Type 200990
Acrocapitofemoral Dysplasia 607778
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Acrofacial Dysostosis 1, Nager Type AD 154400
Acromelic frontonasal dysostosis AD 603671
Acromesomelic Dysplasia Hunter Thompson Type 201250
Acromicric Dysplasia 102370
Adams-Oliver Syndrome 1 100300
Adams-Oliver Syndrome 2 614219
Adams-Oliver Syndrome 4 615297
Adams-Oliver Syndrome 6 616589
ADULT Syndrome AD 103285
Al-Gazali-Bakalinova syndrome 607131
Alkuraya-Kucinskas syndrome AR 617822
Antley-Bixler Syndrome 207410
Apert Syndrome 101200
Arthrogryposis, Distal, Type 7 AD 158300
Atelosteogenesis, Type II AR 256050
Athabaskan Brainstem Dysgenesis 601536
Baller-Gerold Syndrome AR 218600
Bardet-Biedl Syndrome 1 209900
Bardet-Biedl Syndrome 10 615987
Bardet-Biedl Syndrome 12 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 615991
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 615994
Bardet-Biedl Syndrome 18 615995
Bardet-Biedl Syndrome 19 615996
Bardet-Biedl Syndrome 2 615981
Bardet-Biedl Syndrome 20 617119
Bardet-Biedl Syndrome 3 600151
Bardet-Biedl Syndrome 5 615983
Bardet-Biedl Syndrome 6 AD 605231
Bardet-Biedl Syndrome 7 615984
Bardet-Biedl Syndrome 9 615986
Bent bone dysplasia syndrome 614592
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Blepharocheilodontic syndrome 1 AD 119580
Borjeson-Forssman-Lehmann Syndrome XL 301900
Brachydactyly Type A1 112500
Brachydactyly Type A2 AD 112600
Brachydactyly Type C 113100
Brachydactyly, type A1, C 615072
Brachydactyly, Type A1, D AD 616849
Brachydactyly, Type B1 AD 113000
Brachydactyly, Type B2 AD 611377
Brachydactyly, Type D 113200
Brachydactyly, Type E1 113300
Brachydactyly-Syndactyly Syndrome 610713
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 612847
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 610474
Camptomelic Dysplasia AD 114290
Camptosynpolydactyly, Complex 607539
Carney Complex Variant 608837
Carpenter Syndrome AR 201000
Carpenter Syndrome 2 AR 614976
CHAND syndrome AR 214350
Char Syndrome AD 169100
Charcot-Marie-Tooth Disease, Type 4B3 AR 615284
Chondrodysplasia Acromesomelic With Genital Anomalies AR 609441
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Cleft palate, cardiac defects, and mental retardation AD 600987
COACH Syndrome AR 216360
Corneal dystrophy, posterior polymorphous, 4 AD 618031
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 4 AD 614701
Cowden syndrome 5 AD 615108
Cranioectodermal Dysplasia 218330
Cranioectodermal Dysplasia 3 614099
Craniofacial Deafness Hand Syndrome AD 122880
Craniofrontonasal Dysplasia XL 304110
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis 3 AD 615314
Craniosynostosis, Type 1 AD 123100
Crouzon Syndrome 123500
Crouzon Syndrome With Acanthosis Nigricans 612247
Culler-Jones Syndrome 615849
Curry-Jones syndrome, somatic mosaic 601707
Cushing's Symphalangism AD 185800
Cutis Gyrata Syndrome Of Beare And Stevenson 123790
Czech Dysplasia Metatarsal Type 609162
Desbuquois Syndrome 251450
Diastrophic Dysplasia AR 222600
Duane-Radial Ray Syndrome AD 607323
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy AR 225280
Ectodermal Dysplasia-Syndactyly Syndrome 1 AR 613573
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Ellis-van Creveld Syndrome 225500
Elsahy-Waters syndrome AR 211380
Epiphyseal dysplasia, multiple, 7 617719
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness 132450
Fallot Tetralogy AD 187500
Feingold Syndrome 1 164280
Feingold Syndrome 2 614326
Fg Syndrome XL 305450
FG Syndrome 2 300321
Fibular Hypoplasia And Complex Brachydactyly 228900
Filippi syndrome AR 272440
Floating-Harbor Syndrome AD 136140
Focal Dermal Hypoplasia XL 305600
Fontaine progeroid syndrome AD 612289
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Frontometaphyseal Dysplasia 305620
Frontonasal Dysplasia 136760
Frontonasal Dysplasia 2 613451
Geleophysic Dysplasia 2 614185
Genitourinary and/or/brain malformation syndrome AD 618820
Grange syndrome AR 602531
Grebe Syndrome 200700
Greig Cephalopolysyndactyly Syndrome 175700
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
Hay-Wells Syndrome AD 106260
Hennekam Syndrome 235510
Hydrolethalus Syndrome 2 614120
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant AD 115300
Hypertension and Brachydactyly Syndrome AD 112410
Hypochondroplasia 146000
Hypoplastic or Aplastic Tibia with Polydactyly 188740
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies AD 618608
Ivic Syndrome AD 147750
Jackson-Weiss Syndrome AD 123150
Joubert Syndrome 614615
Joubert Syndrome 1 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 15 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 614815
Joubert Syndrome 2 AR 608091
Joubert Syndrome 21 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 616781
Joubert Syndrome 27 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 608629
Joubert Syndrome 30 617622
Joubert Syndrome 31 617761
Joubert Syndrome 4 609583
Joubert Syndrome 5 610188
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 612291
Joubert Syndrome 9 612285
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 6 AD 612702
KBG Syndrome AD 148050
Kniest Dysplasia 156550
Lacrimoauriculodentodigital Syndrome 149730
Laurin-Sandrow Syndrome 135750
Legg-Calve-Perthes Disease 150600
Lenz Microphthalmia Syndrome XL 309800
Lenz-Majewski Hyperostotic Dwarfism AD 151050
Liebenberg Syndrome AD 186550
Limb-Mammary Syndrome AD 603543
Lujan-Fryns Syndrome XL 309520
Macrodactyly, somatic 155500
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Manitoba Oculotrichoanal Syndrome AR 248450
Marfan lipodystrophy syndrome 616914
Marfan Syndrome 154700
Mass Syndrome 604308
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 249000
Meckel Syndrome 10 614175
Meckel Syndrome 12 AR 616258
Meckel Syndrome 2 AR 603194
Meckel Syndrome 4 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 614209
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 615938
Melnick-Needles Syndrome 309350
MEND Syndrome XL 300960
Menke-Hennekam syndrome 1 AD 618332
Menke-Hennekam syndrome 2 AD 618333
Mental retardation, autosomal dominant 22 AD 612337
Mental retardation, autosomal dominant 32 AD 616268
Metacarpal 4-5 fusion XL 309630
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 AR 210720
Microcephaly 20, primary, autosomal recessive AR 617914
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 618142
Microphthalmia Syndromic 6 607932
Microphthalmia With Limb Anomalies AR 206920
Microphthalmia, Isolated 8 AR 615113
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome AR 615877
Muenke Syndrome 602849
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly AR 236500
Multiple Epiphyseal Dysplasia 4 AR 226900
Multiple Synostoses Syndrome 1 AD 186500
Multiple Synostoses Syndrome 2 610017
Nephronophthisis 15 614845
Neu-Laxova syndrome 1 AR 256520
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities AD 618505
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation AR 618797
Neurooculocardiogenitourinary syndrome AD 618652
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
OHDO Syndrome, X-linked; OHDOX XL 300895
Oral-Facial-Digital Syndrome 311200
Orofacial Cleft 6, Susceptibility To AD 608864
Orofacial cleft 8 618149
Orofaciodigital Syndrome IV 258860
Orofaciodigital syndrome VI 277170
Orofaciodigital syndrome XVII 617926
Osteoarthritis With Mild Chondrodysplasia 604864
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 618167
Osteoglophonic Dysplasia AD 166250
Osteoporosis AD 166710
Oto-Palato-Digital Syndrome Type 1 311300
Oto-Palato-Digital Syndrome, Type II 304120
Pallister-Hall Syndrome 146510
Patent ductus arteriosus 2 AD 617035
Periventricular Nodular Heterotopia 7 AD 617201
Pfeiffer Syndrome AD 101600
Phosphoglycerate Dehydrogenase Deficiency AR 601815
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 151210
Polydactyly Preaxial Type 4 174700
Polydactyly, Postaxial, Type A1 174200
Polydactyly, postaxial, type A10 618498
Polydactyly, postaxial, type A6 AR 615226
Polydactyly, postaxial, type A7 617642
Polydactyly, postaxial, type A8 618123
Polydactyly, postaxial, type A9 AR 618219
Polydactyly, preaxial I 174400
Polydactyly, Preaxial II 174500
Popliteal Pterygium Syndrome AD 119500
Popliteal pterygium syndrome 2, lethal type AR 263650
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Progressive Osseous Heteroplasia AD 166350
Pseudohypoparathyroidism Type 1A AD 103580
Pseudohypoparathyroidism Type 1B AD 603233
Pseudohypoparathyroidism Type 1C AD 612462
Rapadilino Syndrome AR 266280
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
Renal Dysplasia And Retinal Aplasia 266900
Retinitis Pigmentosa 74 616562
Ritscher-Schinzel syndrome 1 AR 220210
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Robinow-Sorauf Syndrome AD 180750
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Rubinstein-Taybi Syndrome 2 AD 613684
SADDAN 616482
Saethre-Chotzen Syndrome AD 101400
Scalp-ear-nipple syndrome AD 181270
Sclerosteosis 2 AR 614305
Senior-Loken Syndrome 6 610189
Senior-Loken Syndrome 7 AR 613615
Short stature with microcephaly and distinctive facies AR 615789
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly 615630
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly 616300
Short-rib thoracic dysplasia 14 with polydactyly 616546
Short-rib thoracic dysplasia 15 with polydactyly 617088
Short-rib thoracic dysplasia 16 with or without polydactyly 617102
Short-rib thoracic dysplasia 17 with or without polydactyly AR 617405
Short-rib thoracic dysplasia 18 with polydactyly 617866
Short-rib thoracic dysplasia 19 with or without polydactyly 617895
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly 611263
Short-rib thoracic dysplasia 20 with polydactyly 617925
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly 613091
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly 263520
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly 266920
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 300209
Smith-Lemli-Opitz Syndrome 270400
Spastic Paraplegia 8 AD 603563
Split-foot malformation with mesoaxial polydactyly AR 616890
Split-hand/foot malformation 1 183600
Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Split-Hand/Foot Malformation 4 AD 605289
Spondyloepimetaphyseal Dysplasia Strudwick Type 184250
Spondyloepiphyseal Dysplasia Congenita 183900
Spondyloepiphyseal Sysplasia, Stanescu Type 616583
Spondyloperipheral Dysplasia 271700
Squalene synthase deficiency AR 618156
Stapes Ankylosis With Broad Thumb And Toes AD 184460
STAR Syndrome XL 300707
Stickler Syndrome Type 1 108300
Stickler Syndrome, Type I, Nonsyndromic Ocular 609508
Sweeney-Cox syndrome AD 617746
Symphalangism, Proximal, 1B 615298
Syndactyly Cenani Lenz Type AR 212780
Syndactyly Type 3 AD 186100
Syndactyly Type 5 186300
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 609432
Syndactyly, Type IV 186200
Synpolydactyly 1 186000
Synpolydactyly 2 608180
Talipes Equinovarus AD 119800
Tarsal Carpal Coalition Syndrome AD 186570
Temtamy Preaxial Brachydactyly Syndrome AR 605282
Terminal Osseous Dysplasia 300244
Thanatophoric Dysplasia Type 1 187600
Thanatophoric Dysplasia Type 2 187601
Timothy Syndrome AD 601005
Townes-Brocks Syndrome AD 107480
Trigonocephaly 2 AD 614485
Trigonocephaly, Nonsyndromic AD 190440
Ulnar-Mammary Syndrome AD 181450
Van Der Woude Syndrome AD 119300
Velocardiofacial Syndrome AD 192430
Weill-Marchesani Syndrome 2 608328
Weyers Acrofacial Dysostosis 193530
Wiedemann-Steiner Syndrome 605130
Worth Disease AD 144750

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