GenTIGS

RGDs registry under the 'Bone disorders'

Disorder Name (Total=114)	Aliases	Sub-Category	Gene	Indian Reports	Link
Diastrophic dysplasia Autosomal recessive	•Diastrophic dwarfism	Primary bone dysplasia	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed
Acrocephalosyndactyly Autosomal dominant	•Apert syndrome	Craniosynostosis	FGFR2 fibroblast growth factor receptor 2	Reports Updated as of Sep 15, 2022	PubMed
Craniodiaphyseal dysplasia, autosomal dominant Autosomal dominant	•Lion face syndrome or leontiasis ossea	Non-Neoplastic musculoskeletal disorder	SOST sclerostin	Reports Updated as of Sep 15, 2022	PubMed
Lethal osteosclerotic bone dysplasia Autosomal recessive	•Raine syndrome •Raine syndrome •Osteosclerotic bone dysplasia	Skeletal dysplasia	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
Osteogenesis imperfecta Autosomal dominant, Autosomal recessive, X-linked dominant	•Brittle bone disease •Glass bone disease •Lobstein disease •COL1A1/2-Related Osteogenesis Imperfecta	Skeletal dysplasia	P3H1 prolyl 3-hydroxylase 1 FKBP10 FKBP prolyl isomerase 10 CRTAP cartilage associated protein PPIB peptidylprolyl isomerase B COL1A2 collagen type I alpha 2 chain COL1A1 collagen type I alpha 1 chain SERPINH1 serpin family H member 1 SERPINF1 serpin family F member 1 BMP1 bone morphogenetic protein 1 TMEM38B transmembrane protein 38B WNT1 Wnt family member 1 IFITM5 interferon induced transmembrane protein 5 SP7 Sp7 transcription factor SPARC secreted protein acidic and cysteine rich TENT5A terminal nucleotidyltransferase 5A MBTPS2 membrane bound transcription factor peptidase, site 2 CREB3L1 cAMP responsive element binding protein 3 like 1 SLC34A1 solute carrier family 34 member 1 MESD mesoderm development LRP chaperone KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 GBE1 1,4-alpha-glucan branching enzyme 1 LRP5 LDL receptor related protein 5 XYLT2 xylosyltransferase 2 PHLDB1 pleckstrin homology like domain family B member 1	Reports Updated as of Sep 15, 2022	PubMed
Stickler syndrome Autosomal dominant, Autosomal recessive		Osteochondrodysplasia	COL11A1 collagen type XI alpha 1 chain COL9A1 collagen type IX alpha 1 chain COL2A1 collagen type II alpha 1 chain COL9A2 collagen type IX alpha 2 chain COL9A3 collagen type IX alpha 3 chain COL11A2 collagen type XI alpha 2 chain LOXHD1 lipoxygenase homology PLAT domains 1	Reports Updated as of Mar 09, 2023	PubMed
Autosomal recessive Robinow syndrome Autosomal recessive	•Robinow syndrome	Skeletal dysplasia	ROR2 receptor tyrosine kinase like orphan receptor 2	Reports Updated as of Mar 09, 2023	PubMed
Acromesomelic dysplasia Autosomal recessive		Osteochondrodysplasia	BMPR1B bone morphogenetic protein receptor type 1B GDF5 growth differentiation factor 5 NPR2 natriuretic peptide receptor 2 ANK2 ankyrin 2 PRKG2 protein kinase cGMP-dependent 2	Reports Updated as of Mar 09, 2023	PubMed
Pfeiffer syndrome Autosomal dominant		Dysostosis	FGFR2 fibroblast growth factor receptor 2 FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Mar 09, 2023	PubMed
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Autosomal recessive			PRG4 proteoglycan 4	Reports Updated as of Mar 09, 2023	PubMed
Fibrous dysplasia of jaw Autosomal dominant	•Cherubism •CRBM	Skeletal dysplasia	SH3BP2 SH3 domain binding protein 2	Reports Updated as of Mar 09, 2023	PubMed
Spondyloepiphyseal dysplasia with congenital joint dislocations Autosomal recessive	•CHST3-related skeletal dysplasia •Chondrodysplasia with congenital joint dislocations	Osteochondrodysplasia	CHST3 carbohydrate sulfotransferase 3	Reports Updated as of Mar 09, 2023	PubMed
Congenital contractural arachnodactyly Autosomal dominant			FBN2 fibrillin 2 FBN1 fibrillin 1	Reports Updated as of Mar 09, 2023	PubMed
Enthesitis-Related Juvenile Idiopathic Arthritis	•Enthesitis related arthritis •Enthesitis-related JIA •Juvenile ERA	Bone inflammation diseases	IL36G interleukin 36 gamma MIF macrophage migration inhibitory factor	Reports Updated as of Mar 09, 2023	PubMed
Gnathodiaphyseal dysplasia Autosomal dominant		Osteochondrodysplasia	ANO5 anoctamin 5	Reports Updated as of Mar 09, 2023	PubMed
Goldenhar syndrome Autosomal recessive		Craniosynostosis	SF3B2 splicing factor 3b subunit 2 ZYG11B zyg-11 family member B, cell cycle regulator FOXI3 forkhead box I3	Reports Updated as of Mar 09, 2023	PubMed
Hajdu-Cheney syndrome Autosomal dominant	•Arthrodentoosteodysplasia •Acroosteolysis with osteoporosis and changes in skull and mandible	Skeletal dysplasia	NOTCH2 notch receptor 2	Reports Updated as of May 24, 2023	PubMed
Hyaline fibromatosis syndrome Autosomal recessive		Skeletal dysplasia	ANTXR2 ANTXR cell adhesion molecule 2	Reports Updated as of May 24, 2023	PubMed
Neurofibromatosis type 1 Autosomal dominant	•Von Recklinghausen disease •Peripheral type neurofibromatosis	Sphenoid dysplasia	NF1 neurofibromin 1	Reports Updated as of Sep 05, 2023	PubMed
Oculodentodigital dysplasia Autosomal dominant		Skeletal dysplasia	GJA1 gap junction protein alpha 1	Reports Updated as of Sep 05, 2023	PubMed
Oto-Palato-Digital syndrome X-linked recessive	•Otopalatodigital syndrome type 1 •OPD syndrome 1	Skeletal dysplasia	FLNA filamin A	Reports Updated as of Sep 05, 2023	PubMed
Hypertrophic osteoarthropathy Autosomal recessive	•Pachydermoperiostosis	Bone inflammation diseases	HPGD 15-hydroxyprostaglandin dehydrogenase SLCO2A1 solute carrier organic anion transporter family member 2A1	Reports Updated as of Sep 05, 2023	PubMed
Polyostotic fibrous dysplasia Somatic mosaicism		Fibrous dysplasia	GNAS GNAS complex locus	Reports Updated as of Sep 05, 2023	PubMed
Progressive Pseudorheumatoid Dysplasia Autosomal recessive		Osteochondrodysplasia	CCN6 cellular communication network factor 6	Reports Updated as of Sep 05, 2023	PubMed
Shprintzen-Goldberg syndrome Autosomal dominant		Craniosynostosis	SKI SKI proto-oncogene	Reports Updated as of Sep 05, 2023	PubMed
Spondylocostal dysostosis Autosomal recessive	•Spondylothoracic dysostosis	Dysostosis	MESP2 mesoderm posterior bHLH transcription factor 2 DLL3 delta like canonical Notch ligand 3 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase HES7 hes family bHLH transcription factor 7 TBX6 T-box transcription factor 6 RIPPLY2 ripply transcriptional repressor 2	Reports Updated as of Sep 05, 2023	PubMed
Systemic-Onset Juvenile Idiopathic Arthritis	•Still Disease •Systemic-Onset Jia •Systemic onset juvenile idiopathic arthritis	Bone inflammation diseases	S100A9 S100 calcium binding protein A9 IL6 interleukin 6 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 LACC1 laccase domain containing 1	Reports Updated as of Sep 05, 2023	PubMed
Winchester syndrome Autosomal recessive		Skeletal dysplasia	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed
Fanconi anemia Autosomal recessive, X-linked dominant		Dysostosis	FANCI FA complementation group I PALB2 partner and localizer of BRCA2 FANCL FA complementation group L FANCA FA complementation group A BRIP1 BRCA1 interacting helicase 1 FANCF FA complementation group F FANCG FA complementation group G RAD51C RAD51 paralog C FANCE FA complementation group E BRCA2 BRCA2 DNA repair associated FANCB FA complementation group B FANCD2 FA complementation group D2 FANCC FA complementation group C XRCC2 X-ray repair cross complementing 2 SLX4 SLX4 structure-specific endonuclease subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit UBE2T ubiquitin conjugating enzyme E2 T BRCA1 BRCA1 DNA repair associated FANCM FA complementation group M RAD51 RAD51 recombinase MAD2L2 mitotic arrest deficient 2 like 2 RFWD3 ring finger and WD repeat domain 3 ZNF469 zinc finger protein 469 DCLRE1B DNA cross-link repair 1B	Reports Updated as of Sep 05, 2023	PubMed
Autosomal dominant Robinow syndrome Autosomal dominant	•Robinow dwarfism •Fetal face syndrome •Robinow syndrome	Skeletal dysplasia	WNT5A Wnt family member 5A DVL1 dishevelled segment polarity protein 1 DVL3 dishevelled segment polarity protein 3 FZD2 frizzled class receptor 2 CHN1 chimerin 1	Reports Updated as of Nov 30, 2023	PubMed
Camptomelic dysplasia Autosomal dominant	•Campomelic dysplasia •Campomelic dwarfism	Skeletal dysplasia	SOX9 SRY-box transcription factor 9	Reports Updated as of Nov 30, 2023	PubMed
Acrocallosal syndrome Autosomal recessive	•Hallux duplication	Skeletal dysplasia	KIF7 kinesin family member 7	Reports Updated as of Nov 30, 2023	PubMed
Achondroplasia Autosomal dominant	•Congenital Osteosclerosis •SADDAN syndrome •Achondroplastic Dwarfism •Saddan dysplasia	Skeletal dysplasia	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
Osteoglophonic dysplasia Autosomal dominant	•Osteoglophonic Dwarfism	Skeletal dysplasia	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Nov 30, 2023	PubMed
Thanatophoric dysplasia Autosomal dominant	•Thanatophoric dwarfism •Thanatophoric dysplasia type 1 •Thanatophoric dysplasia type 2	Skeletal dysplasia	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
Achondrogenesis Autosomal dominant, Autosomal recessive	•Achondrogenesis syndrome	Skeletal dysplasia	SLC26A2 solute carrier family 26 member 2 TRIP11 thyroid hormone receptor interactor 11 COL2A1 collagen type II alpha 1 chain	Reports Updated as of Nov 30, 2023	PubMed
Infantile cortical hyperostosis Autosomal dominant	•Caffey disease	Osteochondrodysplasia	COL1A1 collagen type I alpha 1 chain A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)	Reports Updated as of Nov 30, 2023	PubMed
Filippi syndrome Autosomal recessive		Skeletal dysplasia	CKAP2L cytoskeleton associated protein 2 like	Reports Updated as of Dec 07, 2023	PubMed
Floating-Harbor syndrome Autosomal dominant	•Pelletier-Leisti syndrome	Craniosynostosis	SRCAP Snf2 related CREBBP activator protein	Reports Updated as of Dec 07, 2023	PubMed
Ghosal hematodiaphyseal dysplasia Autosomal recessive	•GHDD	Skeletal dysplasia	TBXAS1 thromboxane A synthase 1	Reports Updated as of Dec 07, 2023	PubMed
Ellis-van Creveld syndrome Autosomal recessive	•Mesodermic dysplasia •Chondroectodermal dysplasia •Ellis Van Creveld syndrome	Skeletal dysplasia	EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1	Reports Updated as of Dec 07, 2023	PubMed
Greig cephalopolysyndactyly syndrome Autosomal dominant	•Greig syndrome •GCPS	Skeletal dysplasia	GLI3 GLI family zinc finger 3	Reports Updated as of Dec 07, 2023	PubMed
Gollop-Wolfgang complex Autosomal dominant, Autosomal recessive	•Femur bifid with monodactylous ectrodactyly	Dysostosis	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Dec 29, 2023	PubMed
Trichorhinophalangeal syndrome Autosomal dominant	•Trichorhinophalangeal dysplasia type I	Skeletal dysplasia	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
Spondylocarpotarsal synostosis syndrome Autosomal recessive	•Synspondylism •Spondylocarpotarsal synostosis	Skeletal dysplasia	FLNB filamin B MYH3 myosin heavy chain 3	Reports Updated as of Dec 29, 2023	PubMed
Smith-McCort dysplasia Autosomal recessive	•Smith-McCort dwarfism	Osteochondrodysplasia	DYM dymeclin RAB33B RAB33B, member RAS oncogene family	Reports Updated as of Dec 29, 2023	PubMed
Sclerosteosis Autosomal recessive	•Cortical hyperostosis-syndactyly syndrome	Hyperostosis	SOST sclerostin LRP4 LDL receptor related protein 4	Reports Updated as of Jan 04, 2024	PubMed
Schimke immuno-osseous dysplasia Autosomal recessive	•Schimke immunoosseous dysplasia •Schimke syndrome •Spondyloepiphyseal dysplasia nephrotic syndrome	Skeletal dysplasia	SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	Reports Updated as of Jan 04, 2024	PubMed
Reactive arthritis	•Arthritis urethritica •Fiessinger-Leroy disease •Polyarthritis enterica •Venereal arthritis	Bone inflammation diseases	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
Pyle metaphyseal dysplasia Autosomal recessive	•Pyle disease •Metaphyseal dysostosis •Pyle's disease	Skeletal dysplasia	SFRP4 secreted frizzled related protein 4	Reports Updated as of Jan 04, 2024	PubMed
Pyknodysostosis Autosomal recessive	•Pycnodysostosis	Skeletal dysplasia	CTSK cathepsin K	Reports Updated as of Jan 04, 2024	PubMed
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Autosomal dominant	•Pseudoachondroplasia •Pseudoachondroplastic dysplasia	Osteochondrodysplasia	COMP cartilage oligomeric matrix protein	Reports Updated as of Jan 04, 2024	PubMed
Proteus syndrome Somatic mutation	•Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome •Elattoproteus syndrome •Macrocephaly mesodermal hamartoma spectrum •Hemihypertrophy and macrocephaly	Skeletal dysplasia	AKT1 AKT serine/threonine kinase 1	Reports Updated as of Jan 04, 2024	PubMed
Progressive osseous heteroplasia Autosomal dominant	•Familial ectopic ossification • POH		GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
Miller syndrome Autosomal recessive	•Postaxial acrofacial dysostosis •Acrofacial dysostosis,POADS •Postaxial acrodysostosis	Dysostosis	DHODH dihydroorotate dehydrogenase (quinone)	Reports Updated as of Jan 04, 2024	PubMed
Otospondylomegaepiphyseal dysplasia Autosomal recessive	•Spondylo-megaepiphyseal-metaphyseal dysplasia •OSMED Syndrome	Osteochondrodysplasia	COL11A2 collagen type XI alpha 2 chain COL2A1 collagen type II alpha 1 chain	Reports Updated as of Jan 04, 2024	PubMed
Osteofibrous dysplasia Autosomal dominant		Skeletal dysplasia	MET MET proto-oncogene, receptor tyrosine kinase	Reports Updated as of Jan 04, 2024	PubMed
Opsismodysplasia Autosomal recessive		Skeletal dysplasia	INPPL1 inositol polyphosphate phosphatase like 1	Reports Updated as of Jan 04, 2024	PubMed
Nail-patella syndrome Autosomal dominant	•Onychoosteodysplasia •Arthro-Onychodysplasia •Fong disease •Turner-Kieser syndrome	Dysostosis	LMX1B LIM homeobox transcription factor 1 beta	Reports Updated as of Feb 01, 2024	PubMed
Nager syndrome Autosomal dominant	•Nager acrofacial dysostosis •Preaxial acrofacial dysostosis •Split hand deformity-mandibulofacial dysostosis	Dysostosis	SF3B4 splicing factor 3b subunit 4	Reports Updated as of Feb 01, 2024	PubMed
Multiple congenital exostosis Autosomal dominant	•Multiple osteochondromas •Hereditary multiple exostosis •Multiple exostoses	Hyperostosis	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Feb 01, 2024	PubMed
Tarsal-carpal coalition syndrome Autosomal dominant		Skeletal dysplasia	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
Ehlers-Danlos syndrome, musculocontractural type Autosomal recessive	•Musculocontractural Ehlers-Danlos syndrome •Adducted thumb-clubfoot syndrome •Dündar syndrome	Craniosynostosis	CHST14 carbohydrate sulfotransferase 14 DSE dermatan sulfate epimerase	Reports Updated as of Feb 01, 2024	PubMed
Myhre syndrome Autosomal dominant	•Growth mental deficiency syndrome of Myhre •LAPS syndrome	Skeletal dysplasia	SMAD4 SMAD family member 4	Reports Updated as of Feb 01, 2024	PubMed
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Autosomal recessive	•Nasu-Hakola disease •PLOSL	Skeletal dysplasia	TREM2 triggering receptor expressed on myeloid cells 2 TYROBP transmembrane immune signaling adaptor TYROBP	Reports Updated as of Feb 01, 2024	PubMed
Mulibrey nanism syndrome Autosomal recessive	•Muscle-liver-brain-eye nanism •Perheentupa syndrome •Mulibrey Nanism •Pericardial constriction and growth failure	Skeletal dysplasia	TRIM37 tripartite motif containing 37	Reports Updated as of Feb 01, 2024	PubMed
Multicentric osteolysis nodulosis arthropathy Autosomal recessive	•Nodulosis arthropathy osteolysis syndrome •NAO syndrome •NOA syndrome •Torg syndrome •Torg-Winchester syndrome	Skeletal dysplasia	MMP2 matrix metallopeptidase 2 LPCAT2 lysophosphatidylcholine acyltransferase 2	Reports Updated as of Feb 01, 2024	PubMed
Muenke syndrome Autosomal dominant	•FGFR3-Related craniosynostosis •Syndrome of coronal craniosynostosis •Muenke nonsyndromic coronal craniosynostosis	Craniosynostosis	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Feb 01, 2024	PubMed
Majeed syndrome Autosomal recessive	•Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis •Dyserythropoietic anemia, and neutrophilic dermatosis •CDA and CRMO	Bone inflammation diseases	LPIN2 lipin 2	Reports Updated as of Feb 01, 2024	PubMed
Maffucci syndrome	•Enchondromatosis with multiple cavernous hemangiomas •Hemangiomatosis chondrodystrophica •Kast syndrome •Multiple enchondromatosis	Vascular bone neoplasm	COL2A1 collagen type II alpha 1 chain HIF1A hypoxia inducible factor 1 subunit alpha	Reports Updated as of Feb 01, 2024	PubMed
Metachondromatosis Autosomal dominant			PTPN11 protein tyrosine phosphatase non-receptor type 11	Reports Updated as of Feb 01, 2024	PubMed
Mesoaxial synostotic syndactyly with phalangeal reduction Autosomal recessive	•Syndactyly type 9 •Syndactyly Malik-Percin type	Skeletal dysplasia	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Feb 01, 2024	PubMed
Metatropic dysplasia Autosomal dominant	•Metatropic skeletal dysplasia •Metatropic dwarfism	Skeletal dysplasia	TRPV4 transient receptor potential cation channel subfamily V member 4	Reports Updated as of Feb 01, 2024	PubMed
Langer mesomelic dysplasia syndrome Autosomal recessive	•Dyschondrosteosis, homozygous •Langer Mesomelic Dwarfism •Langer mesomelic dysplasia •Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type	Skeletal dysplasia	SHOX SHOX homeobox	Reports Updated as of Feb 01, 2024	PubMed
Acrodysostosis Autosomal dominant	•Arkless-Graham syndrome •Maroteaux-Malamut syndrome •Acrodysplasia	Skeletal dysplasia	PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha PDE4D phosphodiesterase 4D	Reports Updated as of Feb 01, 2024	PubMed
Adams-Oliver syndrome 1 Autosomal dominant	•Congenital scalp defects with distal limb reduction anomalies •Adams-Oliver syndrome •Forrest H Adams syndrome •Scalp and head syndrome •Scalp defects with ectrodactyly	Skeletal dysplasia	ARHGAP31 Rho GTPase activating protein 31	Reports Updated as of Feb 01, 2024	PubMed
Schwartz-Jampel syndrome Autosomal recessive	•Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities •Schwartz Jampel syndrome type 1 •Aberfeld syndrome •Burton skeletal dysplasia •Burton syndrome •Catel-Hempel syndrome •Dysostosis enchondralis metaepiphysaria, Catel-Hempel type •Myotonic chondrodystrophy •Myotonic myopathy, dwarfism, chondrodystrophy	Skeletal dysplasia	HSPG2 heparan sulfate proteoglycan 2	Reports Updated as of Feb 20, 2024	PubMed
Carpenter syndrome Autosomal recessive	•Acrocephalopolysyndactyly type 2 •ACPS2 •RAB23-related Carpenter syndrome •Acrocephalopolysyndactyly Type II •Carpenter syndrome 1	Craniosynostosis	RAB23 RAB23, member RAS oncogene family MEGF8 multiple EGF like domains 8	Reports Updated as of Feb 20, 2024	PubMed
Autosomal recessive osteopetrosis 8 Autosomal recessive	•OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 •OPTB8	Skeletal dysplasia	SNX10 sorting nexin 10	Reports Updated as of Jul 20, 2024	PubMed
Autosomal dominant osteopetrosis 2 Autosomal dominant	•Albers-Schönberg osteopetrosis •Albers-Schoenberg disease •Osteosclerosis fragilis generalisata •Albers-Schonberg disease, Autosomal Dominant •Autosomal Dominant Osteopetrosis Type II •Marble bones •Osteopetroses •Osteosclerosis fragilis	Skeletal dysplasia	CLCN7 chloride voltage-gated channel 7	Reports Updated as of Jul 20, 2024	PubMed
Autosomal recessive osteopetrosis 1 Autosomal recessive	•Osteopetrosis, autosomal recessive 1 •Albers-Schonberg disease, autosomal recessive •Marble bones autosomal recessive •Osteopetrosis infantile malignant 1 •TCIRG1-related autosomal recessive osteopetrosis	Skeletal dysplasia	TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Reports Updated as of Jul 20, 2024	PubMed
Osteopetrosis with renal tubular acidosis Autosomal recessive	•Autosomal recessive osteopetrosis type 3 •Carbonic anhydrase 2 deficiency •Guibaud Vainsel syndrome •Marble brain disease •Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	Skeletal dysplasia	CA2 carbonic anhydrase 2	Reports Updated as of Jul 20, 2024	PubMed
Osteoporosis with pseudoglioma Autosomal recessive	•Osteoporosis-pseudoglioma syndrome •ocular form of osteogenesis imperfecta •osteogenesis imperfecta ocular form •osteoporosis pseudoglioma syndrome •pseudoglioma with bone fragility	Osteochondrodysplasia	LRP5 LDL receptor related protein 5	Reports Updated as of Feb 01, 2025	PubMed
Asphyxiating thoracic dystrophy 3 Autosomal recessive	•Polydactyly with neonatal chondrodystrophy type 1 •Polydactyly with neonatal chondrodystrophy type III •short-rib thoracic dysplasia 3/6 with polydactyly, digenic •SRPS type 1 •SRPS type 3 •Saldino-Noonan syndrome •short rib polydactyly syndrome, Verma-Naumoff Type •short rib polydactyly syndrome 2B •short rib-polydactyly syndrome type 3 •short rib-polydactyly syndrome Saldino-Noonan type •short rib-polydactyly syndrome type 1 •short-rib polydactyly syndrome type I •short-rib polydactyly syndrome type III •short-rib thoracic dysplasia 3 with or without polydactyly •Verma Naumoff syndrome	Skeletal dysplasia	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 NEK1 NIMA related kinase 1 DYNLT2B dynein light chain Tctex-type 2B BBS10 Bardet-Biedl syndrome 10 TMEM256 transmembrane protein 256 FAM98C family with sequence similarity 98 member C DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 KIF24 kinesin family member 24	Reports Updated as of Feb 01, 2025	PubMed
Jeune thoracic dystrophy	•Asphyxiating thoracic dystrophy •Chondroectodermal dysplasia-like syndrome •Infantile thoracic dystrophy •Jeune syndrome •Jeune's syndrome •Short-rib thoracic dysplasia •Thoracic pelvic phalangeal dystrophy	Skeletal dysplasia	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IFT80 intraflagellar transport 80 TTC21B tetratricopeptide repeat domain 21B WDR19 WD repeat domain 19 LBR lamin B receptor KIAA0753 KIAA0753 WDR35 WD repeat domain 35 TRAF3IP1 TRAF3 interacting protein 1 INTU inturned planar cell polarity protein NEK1 NIMA related kinase 1 EVC2 EvC ciliary complex subunit 2 DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 IFT74 intraflagellar transport 74 IFT88 intraflagellar transport 88 IFT43 intraflagellar transport 43 FUZ fuzzy planar cell polarity protein KIAA0586 KIAA0586 B9D1 B9 domain containing 1 FLVCR1 FLVCR choline and heme transporter 1 SLTM SAFB like transcription modulator GRK2 G protein-coupled receptor kinase 2 RAB34 RAB34, member RAS oncogene family	Reports Updated as of Feb 01, 2025	PubMed
Klippel-Feil syndrome Autosomal dominant	•Cervical C2/C3 vertebral fusion •Klippel Feil syndrome autosomal dominant •cervical vertebral fusion autosomal dominant •cervical vertebral fusion autosomal recessive •Klippel-Feil Sequence	Skeletal dysplasia	GDF6 growth differentiation factor 6 GDF3 growth differentiation factor 3 MEOX1 mesenchyme homeobox 1 RIPPLY2 ripply transcriptional repressor 2 MYO18B myosin XVIIIB	Reports Updated as of Feb 01, 2025	PubMed
Klippel-Feil syndrome 2, autosomal recessive Autosomal recessive	•Cervical vertebral fusion, autosomal recessive •KFS, autosomal recessive •Klippel-Feil syndrome 2 •Klippel Feil syndrome autosomal recessive	Skeletal dysplasia	MEOX1 mesenchyme homeobox 1	Reports Updated as of Feb 01, 2025	PubMed
Osteopathia striata with cranial sclerosis X-linked dominant	•Hyperostosis generalisata with striations •Osteopathia striata with cranial sclerosis, X-linked dominant •Robinow-Unger syndrome •Osteopathia striata cranial sclerosis	Skeletal dysplasia	AMER1 APC membrane recruitment protein 1	Reports Updated as of Feb 01, 2025	PubMed
Grebe syndrome Autosomal recessive	•Acromesomelic dysplasia 2a •acromesomelic dysplasia, Grebe type •chondrodysplasia, Grebe type •Grebe chondrodysplasia •Grebe dysplasia •Langer-Saldino achondrogenesis •type II achondrogenesis •Brazilian achondrogenesis	Skeletal dysplasia	GDF5 growth differentiation factor 5	Reports Updated as of Feb 01, 2025	PubMed
Yunis-Varon syndrome Autosomal recessive	•Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia •cleidocranial dysplasia-micrognathia-absent thumbs syndrome •Yunis Varon syndrome •Yunis-Varón syndrome •Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia	Skeletal dysplasia	FIG4 FIG4 phosphoinositide 5-phosphatase VAC14 VAC14 component of PIKFYVE complex	Reports Updated as of Feb 01, 2025	PubMed
Short-rib thoracic dysplasia 6 with or without polydactyly Autosomal recessive, Digenic recessive	•Majewski syndrome •Polydactyly with neonatal chondrodystrophy, type ii •Polydactyly with neonatal chondrodystrophy type 2 •Short rib-polydactyly syndrome, type iia •Short-rib thoracic dysplasia 6 with polydactyly •Short-rib thoracic dysplasia 6 without polydactyly	Skeletal dysplasia	NEK1 NIMA related kinase 1 WDR35 WD repeat domain 35 TTC21B tetratricopeptide repeat domain 21B TRAF3IP1 TRAF3 interacting protein 1 IFT172 intraflagellar transport 172 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 FUZ fuzzy planar cell polarity protein	Reports Updated as of Feb 26, 2025	PubMed
Familial X-linked hypophosphatemic vitamin D refractory rickets X-linked dominant	•X-linked dominant hypophosphatemic rickets •hereditary hypophosphatemic rickets, X-linked •hypophosphatemic rickets X-linked dominant •hypophosphatemic rickets, X-linked •hypophosphatemic rickets, X-linked dominant, X-linked dominant •rickets, vitamin D-resistant •X-linked hereditary hypophosphatemic rickets •Hypophosphatemic vitamin D-resistant Rickets •Hypophosphatemia, vitamin D-resistant rickets •Hypophosphatemic Rickets, X-Linked Dominant •Vitamin D-resistant rickets, X-linked •X-Linked Hypophosphatemia •XLH	Primary bone dysplasia	PHEX phosphate regulating endopeptidase X-linked	Reports Updated as of Sep 08, 2025	PubMed
Autosomal dominant hypophosphatemic rickets Autosomal dominant	•Hypophosphatemia, autosomal dominant •Autosomal dominant hereditary hypophosphatemic rickets •Autosomal dominant hypophosphatemia •Hereditary hypophosphatemic rickets, autosomal dominant •Hypophosphatemic rickets, autosomal dominant •Vitamin d-resistant rickets, autosomal dominant •ADHR	Primary bone dysplasia	FGF23 fibroblast growth factor 23	Reports Updated as of Sep 08, 2025	PubMed
3M syndrome 2 Autosomal recessive	•Dolichospondylic dysplasia •Gloomy face syndrome •Le Merrer syndrome •Miller-McKusick-Malvaux syndrome •Three m syndrome •Yakut short stature syndrome •3-M syndrome •OBSL1-Related •THREE M SYNDROME 2	Skeletal dysplasia	OBSL1 obscurin like cytoskeletal adaptor 1	Reports Updated as of Jan 05, 2026	PubMed
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Autosomal recessive	•POR Deficiency	Craniosynostosis	POR cytochrome p450 oxidoreductase	Reports Updated as of Jan 05, 2026	PubMed
Hypochondroplasia Autosomal dominant	•Hypochondrodysplasia •HCH	Skeletal dysplasia	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Jan 05, 2026	PubMed
Sponastrime dysplasia Autosomal recessive	•Spondylar and nasal alterations with striated metaphyses •Spondylar and nasal alterations-striated metaphyses syndrome •Spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia •Spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia	Skeletal dysplasia	TONSL tonsoku like, DNA repair protein	Reports Updated as of Jan 05, 2026	PubMed
Steel syndrome Autosomal recessive	•Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome •STLS •Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome	Skeletal dysplasia	COL27A1 collagen type XXVII alpha 1 chain	Reports Updated as of Jan 05, 2026	PubMed
Spondylometaphyseal dysplasia - Sutcliffe type Autosomal dominant	•Spondylometaphyseal dysplasia corner fracture type •Spondylometaphyseal dysplasia, 'corner fracture' type •Sutcliffe SMD •Spondylometaphyseal dysplasia, sutcliffe type •Sutcliffe type of spondylometaphyseal dysplasia	Skeletal dysplasia	FN1 fibronectin 1 COL2A1 collagen type II alpha 1 chain	Reports Updated as of Jan 05, 2026	PubMed
Roberts-SC phocomelia syndrome Autosomal recessive	•Long bone deficiencies associated with cleft lip palate •ESCO2 spectrum disorder •Hypomelia-hypotrichosis-facial hemangioma syndrome •Long bone deficiencies associated with cleft lip-palate •Hypomelia hypotrichosis facial hemangioma syndrome •Roberts syndrome/sc phocomelia •Roberts tetraphocomelia syndrome •Tetraphocomelia-cleft palate syndrome •Appelt-Gerken-Lenz syndrome •Pseudothalidomide syndrome •Roberts syndrome •Robert's syndrome •SC phocomelia syndrome •RBS	Skeletal dysplasia	ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2	Reports Updated as of Jan 05, 2026	PubMed
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Autosomal recessive	•Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type •Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome •SEMDFA	Skeletal dysplasia	RSPRY1 ring finger and SPRY domain containing 1	Reports Updated as of Jan 05, 2026	PubMed
Osteosclerotic metaphyseal dysplasia Autosomal recessive	•OSMD	Skeletal dysplasia	LRRK1 leucine rich repeat kinase 1	Reports Updated as of Jan 05, 2026	PubMed
Metaphyseal chondrodysplasia, Schmid type Autosomal dominant	•Japanese type spondylometaphyseal dysplasia •MCDS •Metaphyseal chondrodysplasia schmid type •metaphyseal dysplasia, Schmid type •Schmid metaphyseal chondrodysplasia •Schmid type metaphyseal dysplasia •Spondylometaphyseal dysplasia, japanese type	Skeletal dysplasia	COL10A1 collagen type X alpha 1 chain	Reports Updated as of Jan 05, 2026	PubMed
3M syndrome 1 Autosomal recessive	•Gloomy face syndrome •Dolichospondylic dysplasia •Le Merrer syndrome •Miller-McKusick-Malvaux syndrome •three m syndrome •Yakut short stature syndrome •3-M Syndrome, CUL7-Related •3-M Syndrome	Skeletal dysplasia	CUL7 cullin 7 OBSL1 obscurin like cytoskeletal adaptor 1	Reports Updated as of Feb 10, 2026	PubMed
Treacher Collins syndrome 1 Autosomal dominant	•TCOF1-Related Treacher Collins Syndrome •TCS1 •Treacher-Collins syndrome •Franceschetti klein syndrome •Franceschetti syndrome •Franceschetti-klein syndrome •Mandibulofacial dysostosis without limb anomalies •Treacher collins-Franceschetti syndrome	Dysostosis	TCOF1 treacle ribosome biogenesis factor 1	Reports Updated as of Feb 10, 2026	PubMed
Desbuquois dysplasia 1 Autosomal recessive	•Desbuquois dysplasia 1, Kim variant •DBQD1 •Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Skeletal dysplasia	CANT1 calcium activated nucleotidase 1 XYLT1 xylosyltransferase 1	Reports Updated as of Feb 10, 2026	PubMed
Multicentric carpo-tarsal osteolysis with or without nephropathy Autosomal dominant	•Carnevale Canun Mendoza syndrome •Idiopathic multicentric osteolysis with or without nephropathy •Multicentric osteolysis of carpal bones and nephropathy •Multicentric Carpotarsal Osteolysis with or without Nephropathy •Multicentric carpotarsal osteolysis syndrome •Multicentric osteolysis, autosomal dominant •Osteolysis, hereditary, of carpal bones with or without nephropathy	Skeletal dysplasia	MAFB MAF bZIP transcription factor B	Reports Updated as of Mar 30, 2026	PubMed
Split hand-foot malformation 4 Autosomal dominant	•SHFM4 syndrome •Split-Hand/Foot Malformation Type 4 (SHFM4 syndrome) •Split-Hand/Foot Malformation Type 4 (SHFM4)	Dysostosis	TP63 tumor protein p63	Reports Updated as of Mar 30, 2026	PubMed
Split hand-foot malformation 6 Autosomal recessive	•Ectrodactyly, autosomal recessive	Dysostosis	WNT10B Wnt family member 10B	Reports Updated as of Mar 30, 2026	PubMed
Atelosteogenesis type II Autosomal recessive	•Atelosteogenesis de la Chapelle type •Atelosteogenesis type 2 •Neonatal osseous dysplasia i •Neonatal osseous dysplasia type 1 •Neonatal osseous dysplasia 1 •Atelosteogenesis type 2 •AO2 •AOII •Atelosteogenesis type ii	Bone dysplasia	SLC26A2 solute carrier family 26 member 2 FLNB filamin B	Reports Updated as of Mar 30, 2026	PubMed
Schinzel phocomelia syndrome Autosomal recessive	•Congenital absence of ulna and fibula •Severe limb deficit •Al Awadi-Raas-Rothschild syndrome •Aplasia/hypoplasia of limbs and pelvis •Phocomelia Schinzel type • Phocomelia, Schinzel type •Al-Awadi/Raas-Rothschild syndrome •Limb/pelvis-hypoplasia/aplasia syndrome •Ulna and fibula, absence of, with severe limb deficiency	Skeletal dysplasia	WNT7A Wnt family member 7A	Reports Updated as of Mar 30, 2026	PubMed
Autosomal recessive osteopetrosis 4 Autosomal recessive	•Infantile Malignant CLCN7-related autosomal recessive osteopetrosis •Infantile malignant CLCN7-related recessive osteopetrosis	Skeletal dysplasia	CLCN7 chloride voltage-gated channel 7	Reports Updated as of Mar 30, 2026	PubMed
X-linked chondrodysplasia punctata 1 X-linked recessive	•Arse x-linked chondrodysplasia punctata •Brachytelephalangic chondrodysplasia punctata •Chondrodysplasia punctata, x-linked recessive •Chondrodysplasia punctata, x-linked recessive, x-linked recessive •X-linked chondrodysplasia punctata caused by mutation in arse •Chondrodysplasia punctata, brachytelephalangic •CDPX1	Skeletal dysplasia	ARSL arylsulfatase L	Reports Updated as of Apr 28, 2026	PubMed
Autosomal dominant Kenny-Caffey syndrome Autosomal dominant	•Kenny-Caffey syndrome type 2 •Kenny-Caffey syndrome, autosomal dominant	Primary bone dysplasia	FAM111A FAM111 trypsin like peptidase A	Reports Updated as of Apr 28, 2026	PubMed