Hereditary musculoskeletal diseases

Hereditary musculoskeletal disease includes both functional and morphological alterations of the skeletal system.

Systematic

Hereditary diseases
	Disposition to infections
	Genetic alterations of drug tolerance
	Hereditary broncho-pulmonary disease
	Hereditary cardiac disease
	Hereditary dermatological disorders
	Hereditary diseases of the hematopoetic system and coagulopathies
	Hereditary endocrinological diseases
	Hereditary immunological disorders
	Hereditary kidney diseases
	Hereditary liver disease
	Hereditary malformations
	Hereditary metabolic diseases
	Hereditary musculoskeletal diseases
		Hereditary bone disease
			Acro-renal-ocular syndrome
				SALL4
			Albright hereditary osteodystrophy
				GNAS
			Bone dysplasia
				Achondroplasia
					FGFR3
				Achondroplasia-SCID syndrome
				Acrocapitofemoral dysplasia
					IHH
				Antley-Bixler syndrome 1
					POR
				Antley-Bixler syndrome 2
					FGFR2
				Apert syndrome
					FGFR2
				Cherubism
					SH3BP2
				Chondrodysplasia of Blomstrand type
					PTH1R
				Chondrodysplasia, Grebe type
					Acromesomelic dysplasia, Demirhan type
						BMPR1B
					Acromesomelic dysplasia, Grebe type
						GDF5
					Acromesomelic dysplasia, Hunter-Thompson type
						GDF5
					GDF5
				Crouzon syndrome
					FGFR3
				Eiken syndrome
					PTH1R
				Failure of tooth eruption
					PTH1R
				McCune-Albright syndrom
					GNAS
				Metaphyseal chondrodysplasia of Murk Jansen type
					PTH1R
				Muenke syndrome
					FGFR3
				Osteofibrous dysplasia
					MET
				Osteopathia striata with cranial sclerosis
					AMER1
				Schimke Immunoosseous dysplasia
					SMARCAL1
				Thanatophoric dysplasia 1
					FGFR3
				Thanatophoric dysplasia 2
					FGFR3
			Ehlers-Danlos syndrome due to tenascin-X deficiency
				TNXB
			Familial expansile osteolysis
				TNFRSF11A
			IVIC syndrome
				SALL4
			Juvenile Paget disease
				TNFRSF11A
			Kabuki syndrome
				KDM6A
				Kabuki syndrome 1
					KMT2D
				Kabuki syndrome 2
					KDM6A
			Metabolic bone disease
				Hereditary Rickets
					Hypophosphatasia
						Adult hypophosphatasia
							ALPL
						Childhood hypophosphatasia
							ALPL
						Infantile hypophosphatasia
							ALPL
						Odontohypophosphatasia
							ALPL
					Hypophosphatemic bone and kindney disease
						Disorders of the renal phosphate transporters
							Hypophosphatemic rickets with hypercalciuria
								SLC34A3
							Idiopathic basal ganglia calcification 1
								SLC20A2
							Nephrolithiasis/osteoporosis, hypophosphatemic, 1
								SLC34A1
							Nephrolithiasis/osteoporosis, hypophosphatemic, 2
								SLC9A3R1
						FGF23-induced hypophosphatemic rickets
							Autosomal dominant hypophosphatemic rickets
								FGF23
							Autosomal recessive hypophosphatemic rickets type 1
								DMP1
							Autosomal recessive hypophosphatemic rickets type 2
								ENPP1
							X-linked dominant hypophosphatemic rickets
								PHEX
						Fanconi-type hypophosphatemic rickets
							Nephrolithiasis/osteoporosis, hypophosphatemic, 1
								SLC34A1
							X-linked recessive hypophosphatemic rickets
								CLCN5
								OCRL
						Hypophosphatemic rickets with hyperparathyroidism
							KL
						Osteoglophonic dysplasia
							FGFR1
						Raine syndrome
							FAM20C
						X-linked dominant hypophosphatemic rickets
							PHEX
					Vitamin D hydroxylation-deficient rickets type 1A
						CYP27B1
					Vitamin D hydroxylation-deficient rickets type 1B
						CYP2R1
					Vitamin D-dependent rickets, type 2A
						VDR
					Vitamin D-dependent rickets, type 2B
						RXRA
				Inherited human diseases of heterotopic bone formation
					Familial tumoral calcinosis
						Familial normophosphatemic tumoral calcinosis
							SAMD9
						Hyperphosphatemic familial tumoral calcinosis
							FGF23
							GALNT3
							KL
					Fibrodysplasia ossificans progressiva
						ACVR1
					Progressive osseous heteroplasia
						GNAS
				Osteopetrosis
					Autosomal dominant osteopetrosis 1
						LRP5
					Autosomal dominant osteopetrosis 2
						CLCN7
					Autosomal recessive osteopetrosis 4
						CLCN7
					Autosomal recessive osteopetrosis 7
						TNFRSF11A
					Combined renal tubular acidosis 3 with osteopetrosis 3
						CA2
				Osteoporosis/renal Osteodystrophy
					CASR
					LRP5
					RXRA
					VDR
				Pseudohypoparathyroidism
					Albright hereditary osteodystrophy
						GNAS
					Pseudohypoparathyroidism type IB
						GNAS
						GNAS-AS1
						STX16
			Osteoarthritis susceptibility 5
				GDF5
		Hereditary joint disease
			Hereditary arterial and articular multiple calcification syndrome
				NT5E
		Hereditary muscle diseases
			Inclusion body myopathy 2
				GNE
			Nonaka myopathy
				GNE
			Polyglucosan body myopathy type 1
				RBCK1
		Inborn skeletal malformations
			Al-Gazali-Bakalinova syndrome
				KIF7
			Brachydactyly
				Brachydactyly type A1
					Brachydactyly type A1, A
						IHH
					Brachydactyly type A1, B
					Brachydactyly type A1, C
						GDF5
					Brachydactyly type A1, D
						BMPR1B
				Brachydactyly type A2
					BMPR1B
				Brachydactyly type A3
				Brachydactyly type A4
				Brachydactyly type B1
					ROR2
				Brachydactyly type B2
					NOG
				Brachydactyly type C
					GDF5
				Brachydactyly type D
					HOXD13
				Brachydactyly type E1
					HOXD13
				Brachydactyly type E2
					PTHLH
				Brachydactyly types B and E combined
				Brachydactyly-syndactyly
					HOXD13
				Fibular aplasia-complex brachydactyly syndrome
					GDF5
			Branchio-oculo-facial syndrome
				TFAP2A
			Congenital contractural arachnodactyly
				FBN2
			Ehlers-Danlos syndrome due to tenascin-X deficiency
				TNXB
			Hydrolethalus 2
				KIF7
			Lacrimoauriculodentodigital syndrome
				FGF10
			Loeys-Dietz syndrome
				Loeys-Dietz syndrome 1
					TGFBR1
				Loeys-Dietz syndrome 2
					TGFBR2
			Multiple synostoses syndrome
				Multiple synostoses syndrome 1
					NOG
				Multiple synostoses syndrome 2
					GDF5
				Multiple synostoses syndrome 3
					FGF9
				NOG
			Multiple synostoses syndrome 3
				FGF9
			Orofacial cleft 11
				BMP4
			Orofaciodigital syndrome
				Orofaciodigital syndrome 01
					OFD1
				Orofaciodigital syndrome 04
					TCTN3
				Orofaciodigital syndrome 06
					CPLANE1
				Orofaciodigital syndrome 16
					TMEM107
				Orofaciodigital syndrome 9
			Periodontal Ehlers-Danlos syndrome
				C1R
				C1S
			Proximal symphalangism
				Proximal symphalangism 1A
					NOG
				Proximal symphalangism 1B
					GDF5
			Renal tubular acidosis with arthrogryposis
				Arthrogryposis, renal dysfunction, and cholestasis 1
					VPS33B
				Arthrogryposis, renal dysfunction, and cholestasis 2
					VIPAS39
			Simpson-Golabi-Behmel syndrome
				Simpson-Golabi-Behmel syndrome 1
					GPC3
				Simpson-Golabi-Behmel syndrome 2
					OFD1
			Stapes ankylosis with broad thumbs and toes
				NOG
			Syndactyly type 5
				HOXD13
			Synpolydactyly type 1
				HOXD13
			Tarsal-carpal coalition syndrome
				NOG
			Tatton-Brown-Rahman syndrome
				DNMT3A
			Townes-Brocks syndrome
				SALL1
				Townes-Brocks branchiootorenal-like syndrome
					SALL1
				Townes-Brocks syndrome 1
					SALL1
				Townes-Brocks syndrome 2
					DACT1
			Trigonocephaly 2
				FREM1
			Van Maldergem syndrome 2
				FAT4
		Short stature
			Acrocapitofemoral dysplasia
				IHH
			Brachydactyly
				Brachydactyly type A1
					Brachydactyly type A1, A
						IHH
					Brachydactyly type A1, B
					Brachydactyly type A1, C
						GDF5
					Brachydactyly type A1, D
						BMPR1B
				Brachydactyly type A2
					BMPR1B
				Brachydactyly type A3
				Brachydactyly type A4
				Brachydactyly type B1
					ROR2
				Brachydactyly type B2
					NOG
				Brachydactyly type C
					GDF5
				Brachydactyly type D
					HOXD13
				Brachydactyly type E1
					HOXD13
				Brachydactyly type E2
					PTHLH
				Brachydactyly types B and E combined
				Brachydactyly-syndactyly
					HOXD13
				Fibular aplasia-complex brachydactyly syndrome
					GDF5
			Short stature, SHOX-linked
				Langer mesomelic dysplasia
					SHOX
				Leri-Weill dyschondrosteosis
					SHOX
				X-linked familial short stature
					SHOX
				Y-linked familial short stature
					SHOX
			Sotos syndrome 1
				NSD1
			Syndromic growth retardation
				Growth retardation with developmental delay and facial dysmorphism
					FTO
				Short stature, developmental delay, and congenital heart defects
					TKT
	Hereditary neurological disorders
	Hereditary ocular disease and visual impairment
	Hereditary otorhinolaryngological disorders
	Hereditary pancreatic disease
	Hereditary tumors
	Hereditary vascular disease
	Hypertension

References:

1.	None (2015) Skeletal Dysplasias: An Overview.

2.	Huegel J et al. (2013) Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.

3.	Nishimura G et al. (2012) TRPV4-associated skeletal dysplasias.

Update: June 23, 2025

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