Phenotype: Synostosis involving bones of the upper limbs (HP:0100238)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: IHH
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: SMAD6
disease_id: OMIM:179300
disease_name: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SF3B4
disease_id: ORPHA:1788
disease_name: Acrofacial dysostosis, Rodríguez type
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: TBX5
disease_id: ORPHA:392
disease_name: Holt-Oram syndrome
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:2307
disease_name: IVIC syndrome
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MECOM
disease_id: ORPHA:71289
disease_name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: HOXA11
disease_id: ORPHA:71289
disease_name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: ESCO2
disease_id: ORPHA:2319
disease_name: Juberg-Hayward syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: KAT6B
disease_id: ORPHA:85201
disease_name: Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: DHODH
disease_id: OMIM:263750
disease_name: POSTAXIAL ACROFACIAL DYSOSTOSIS
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: COLEC10
disease_id: OMIM:248340
disease_name: 3MC SYNDROME 3
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: TBX22
disease_id: OMIM:302905
disease_name: ABRUZZO-ERICKSON SYNDROME
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: DONSON
disease_id: OMIM:617604
disease_name: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: NOG
disease_id: OMIM:186570
disease_name: TARSAL-CARPAL COALITION SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: CYP26B1
disease_id: OMIM:614416
disease_name: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
gene_symbol: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
gene_symbol: GDF5
disease_id: OMIM:610017
disease_name: MULTIPLE SYNOSTOSES SYNDROME 2
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: LMBR1
disease_id: ORPHA:988
disease_name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Absent tibia-polydactyly syndrome
Werner mesomelic spectrum
gene_symbol: SHH
disease_id: ORPHA:988
disease_name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Absent tibia-polydactyly syndrome
Werner mesomelic spectrum
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: MACROH2A1
disease_id: ORPHA:1275
disease_name: Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
gene_symbol: PITX1
disease_id: ORPHA:1275
disease_name: Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
gene_symbol: FGF16
disease_id: OMIM:309630
disease_name: METACARPAL 4-5 FUSION
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: HOXD13
disease_id: ORPHA:93406
disease_name: Syndactyly type 5
Postaxial syndactyly with metacarpal synostosis
SD5
gene_symbol: BHLHA9
disease_id: ORPHA:157801
disease_name: Mesoaxial synostotic syndactyly with phalangeal reduction
MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type
gene_symbol: FBLN1
disease_id: OMIM:608180
disease_name: SYNPOLYDACTYLY 2
gene_symbol: TCF12
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: ZIC1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: MYH3
disease_id: ORPHA:3275
disease_name: Spondylocarpotarsal synostosis
Synspondylism
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: COL27A1
disease_id: OMIM:615155
disease_name: STEEL SYNDROME
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: FLNB
disease_id: ORPHA:3275
disease_name: Spondylocarpotarsal synostosis
Synspondylism
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2