Phenotype: Synostosis involving bones of the hand (HP:0004278)
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: 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: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
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: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT 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: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: GDF5
disease_id: OMIM:610017
disease_name: MULTIPLE SYNOSTOSES SYNDROME 2
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: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME
gene_symbol: TWIST1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: FGFR3
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
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: 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: 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: NOG
disease_id: OMIM:186570
disease_name: TARSAL-CARPAL COALITION SYNDROME
gene_symbol: NOG
disease_id: OMIM:611377
disease_name: BRACHYDACTYLY, TYPE B2
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: NOG
disease_id: OMIM:185800
disease_name: SYMPHALANGISM, PROXIMAL, 1A
gene_symbol: COL27A1
disease_id: OMIM:615155
disease_name: STEEL SYNDROME
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC 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: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY 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: B3GALT6
disease_id: OMIM:615349
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome