Hereditary malformations

Malformations are inborn morphological deviations from the normal body or organ structure. Such deformities show wide variability from non-disabling alterations to severe lethal disfigurement. Different organs and pody parts can be affected by a highly variable genetic background.

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
		Bohring-Opitz syndrome
			ASXL1
		Congenital abnormalities of the kidney and urinary tract
			Acro-renal-ocular syndrome
				SALL4
			Aplasia of lacrimal and salivary glands
				FGF10
			Autosomal dominant Robinow syndrome 1
				WNT5A
			Autosomal recessive Robinow syndrome
				ROR2
			BMP7
			BNAR syndrome
				FREM1
			Brain malformations with urinary tract defects
				NFIA
			Branchio-oculo-facial syndrome
				TFAP2A
			Branchiootic syndrome
				Branchiootic syndrome 1
					EYA1
				Branchiootic syndrome 3
					SIX1
			Branchiootorenal dysplasia
				Branchiootorenal dysplasia 1
					EYA1
				Branchiootorenal dysplasia 2
					SIX5
				SIX2
				Townes-Brocks branchiootorenal-like syndrome
					SALL1
			CHARGE syndrome
				CHD7
				SEMA3E
				TBX18
			CHD1L
			Congenital anomalies of kidney and urinary tract 1
				DSTYK
			Congenital anomalies of kidney and urinary tract 2
				TBX18
			Congenital hypogonadotropic hypogonadism with anosmia 1
				ANOS1
			Congenital hypogonadotropic hypogonadism without anosmia 5
				CHD7
			Denys-Drash syndrome
				WT1
			Fraser syndrome
				FRAS1
				FREM2
				GRIP1
			Frasier syndrome
				WT1
			Goldberg-Shprintzen syndrome
				KIF1BP
			IVIC syndrome
				SALL4
			Ivemark syndrome
				Renal-hepatic-pancreatic dysplasia 1
					NPHP3
				Renal-hepatic-pancreatic dysplasia 2
					NEK8
			Kabuki syndrome
				KDM6A
				Kabuki syndrome 1
					KMT2D
				Kabuki syndrome 2
					KDM6A
			Lacrimoauriculodentodigital syndrome
				FGF10
			Mowat-Wilson syndrome
				ZEB2
			Papillorenal syndrome
				PAX2
			Renal cysts and diabetes (RCAD)
				HNF1B
			Renal dysplasia with hypopituitarism and diabetes
				HNF1A
			Renal hypodysplasia/aplasia
				GREB1L
				Renal hypodysplasia/aplasia 1
					DSTYK
					ITGA8
					PAX2
					RET
					UPK3A
				Renal hypodysplasia/aplasia 2
					FGF20
			Renal tubular dysgenesis
				ACE
				AGT
				AGTR1
				REN
			SERKAL syndrome
				WNT4
			Simpson-Golabi-Behmel syndrome
				Simpson-Golabi-Behmel syndrome 1
					GPC3
				Simpson-Golabi-Behmel syndrome 2
					OFD1
			Smith-Lemli-Opitz syndrome
				DHCR7
			Somatic nephroblastoma
				GPC3
				WT1
			Susceptibility to cystic renal dysplasia
				BICC1
			Syndromic microphthalmia 6
				BMP4
			Urofacial syndrome
				HPSE2
			Vesicoureteral reflux
				Familial vesicoureteral reflux 2
					ROBO2
				Familial vesicoureteral reflux 3
					SOX17
				Familial vesicoureteral reflux 8
					TNXB
			WAGR syndrome
				PAX6
				WT1
		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
		Smith-Kingsmore syndrome
			MTOR
		Spondyloepiphyseal dysplasia tarda
			TRAPPC2
	Hereditary metabolic diseases
	Hereditary musculoskeletal diseases
	Hereditary neurological disorders
	Hereditary ocular disease and visual impairment
	Hereditary otorhinolaryngological disorders
	Hereditary pancreatic disease
	Hereditary tumors
	Hereditary vascular disease
	Hypertension