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List of Defects

The following medical conditions have the word "defect" or similar in their name. Refer to the Disease Center or the Main List of Diseases for full lists of all medical conditions.

|A| B| C| D| E| F| G| H| I| J| K| L| M| N| O| P| Q| R| S| T| U| V| W| X| Y| Z|

A

  • A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects ... see Van Bogaert-Hozay syndrome
  • Absence defect of limbs, scalp and skull ... see Adams-Oliver Syndrome
  • ACF with Cardiac Defects ... see Cayler syndrome
  • Acro-pectoro-renal field defect
  • Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects
  • Acrodefects-gingival fibromatosis ... see Zimmerman-Laband syndrome
  • Acropectorenal field defect ... see Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys
  • Acrorenal defect ... see AREDYLD
  • Acrorenal field defect ... see AREDYLD
  • Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes ... see AREDYLD
  • Adrenal hyperplasia, congenital, due to defects in several steroid-biosynthetic enzymes ... see Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
  • Agammaglobulinemia due to early proB cell defect ... see Agammaglobulinemia, non-Bruton type
  • Albinism with immune and hematologic defects ... see Kotzot-Richter syndrome
  • Aldosterone deficiency due to defect in 18-hydroxylase ... see 18-Hydroxylase deficiency
  • Aldosterone Deficiency due to defect in steroid 18-Hydroxylase ... see Corticosterone Methyloxidase type I Deficiency
  • Aldosterone Deficiency due to defect in steroid 18-Oxidase ... see Corticosterone Methyloxidase type I Deficiency
  • Alopecia, neurological defects and endocrinopathy ... see Alopecia, mental retardation and neurological problems
  • Alopecia, neurological defects and hormonal deficiencies ... see Alopecia, mental retardation and neurological problems
  • Ankle defects short stature
  • Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae) ... see Hay-Wells syndrome, recessive type
  • Ankyloblepharon-ectodermal defects-cleft lip/palate ... see Hay-Wells Syndrome
  • Anophthalmia - hand and foot defects - mental retardation
  • Anotia - facial palsy - cardiac defect
  • Antibody deficiency due to defect in CD19 ... see Hypogammaglobulinemia due to CD19 deficiency
  • Aortic arches defect
  • Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly
  • ASD with atrioventricular conduction defects ... see Atrial septal defect atrioventricular conduction
  • Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis ... see Pyknoachondrogenesis
  • Asternia with Cardiac, Diaphragmatic, and Abdominal defects
  • Asymmetric Crying Face with Cardiac Defects ... see Cayler syndrome
  • Asymmetric crying facies-cardiac defect ... see Cayler syndrome
  • Atrial Septal Defect
  • Atrial septal defect 1
  • Atrial septal defect 2
  • Atrial septal defect atrioventricular conduction
  • Atrioventricular canal defects ... see Atrioventricular septal defect
  • Atrioventricular defect ... see Houlston ironton temple syndrome de
  • Atrioventricular defect blepharophimosis radial defects ... see Houlston ironton temple syndrome de
  • Atrioventricular defect-persistent A-V ostium ... see Atrioventricular septal defect
  • Atrioventricular septal defect
  • Atrioventricular Septal Defects
  • Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes ... see Irons-Bhan syndrome
  • Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss ... see Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
  • Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss

    B

  • Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance ... see Burn-McKeown syndrome
  • Bilateral radial defects, club foot deformity, micrognathia and cleft palate ... see Radial defect - Robin sequence
  • Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects ... see Deafness - enamel hypoplasia - nail defects
  • Bile acid synthesis defect, congenital, 1 ... see Bile acid synthesis defects, congenital, 1
  • Bile acid synthesis defect, congenital, 2
  • Bile acid synthesis defect, congenital, 4
  • Bile acid synthesis defects
  • Bile acid synthesis defects, congenital, 1
  • Bile acid synthesis defects, congenital, 2
  • Bile acid synthesis defects, congenital, 3
  • Bile acid synthesis defects, congenital, 4
  • Biodefective growth hormone ... see Kowarski syndrome
  • Birth defects ... see Congenital conditions
  • Blastogenesis defect ... see Axial mesodermal dysplasia spectrum
  • Blue-yellow color vision defects
  • Brachial amelia, forebrain defects and facial clefts ... see Yim Ebbin syndrome
  • Brachial arch defects, X-linked ... see Toriello syndrome
  • Brachydactyly - mesomelia - mental retardation - heart defects
  • Brachydactyly and intraventricular conduction defect ... see Heart-hand syndrome, Spanish type

    C

  • Camptodactyly, joint contractures, facial skeletal defects ... see Camptodactyly - joint contractures and facial skeletal dysplasia
  • Cardiac and laterality defects
  • Cardiac conduction defect, familial ... see Heart block progressive, familial
  • Cardiac conduction defect, progressive ... see Heart block progressive, familial
  • Cardiofacial defect ... see Cayler syndrome
  • Cardiomyopathy dilated with conduction defect
  • Cardiomyopathy dilated with conduction defect type 1
  • Cardiomyopathy dilated with conduction defect type 2
  • Cardiomyopathy, dilated with conduction defect and muscular dystrophy ... see Limb-girdle muscular dystrophy type 1E
  • Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine ... see Carnitine transporter deficiency
  • Carnitine uptake defect ... see Carnitine transporter deficiency
  • Cataract - intellectual deficit - anal atresia - urinary defects
  • Cataract mental retardation anal atresia urinary defects ... see Karandikar-Maria-Kamble syndrome
  • Cataract microphthalmia septal defect ... see Wilkie Taylor Scambler syndrome
  • Cataracts, microphthalmia, radiculomegaly and septal heart defects ... see Oculofaciocardiodental syndrome
  • Choanal atresia - deafness - cardiac defects - dysmorphia
  • Choanal atresia - deafness - cardiac defects - dysmorphism
  • Cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid ... see Bile acid synthesis defects, congenital, 4
  • Cilia with defective radial spokes ... see Immotile cilia syndrome, due to defective radial spokes
  • Citrulline transport defect
  • Cleft lip and palate, lower lip pits, and limb deficiency defects ... see Kuster syndrome
  • Cleft palate - cardiac defect - genital anomalies - ectrodactyly
  • Cleft palate cardiac defect ectrodactyly
  • Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects ... see Hay-Wells syndrome, recessive type
  • Coagulation defects ... see Bleeding disorders
  • Colobomata unilobar lung heart defect
  • Complete atrioventricular septal defect ... see Complete atrioventricular canal
  • Complex congenital heart defect, renal agenesis, and cleft lip and palate ... see Holzgreve-Wagner-Rehder syndrome
  • Congenital defect of skull and scalp ... see Aplasia Cutis Congenita
  • Congenital defects of head skin (aplasia cutis congenita) with terminal transverse defects of limbs, and skull defects ... see Adams-Oliver Syndrome
  • Congenital heart defect ... see Sonoda syndrome
  • Congenital heart defects
  • Congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure ... see Cardiofaciocutaneous Syndrome
  • Congenital heart defects, hamartomas of tongue and polysyndactyly ... see Orstavik-Lindemann-Solberg syndrome
  • Congenital heart septum defect
  • Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
  • Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects ... see Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
  • Congenital microgastria and limb reduction defects ... see Congenital microgastria limb reduction defect
  • Congenital microgastria limb reduction defect
  • Congenital scalp defects associated with postaxial polydactyly ... see Scalp defects - postaxial polydactyly
  • Congenital scalp defects with distal limb reduction anomalies ... see Adams-Oliver Syndrome
  • Conotruncal cardiac defects ... see Conotruncal heart malformations
  • Costovertebral segmentation defect ... see Robinow syndrome, autosomal recessive
  • Costovertebral segmentation defect with mesomelia (formerly) ... see Robinow syndrome, autosomal recessive
  • Craniofacial and osseous defects ... see Grix-Blankenship-Peterson syndrome
  • Craniofacial and osseous defects mental retardation ... see Grix-Blankenship-Peterson syndrome
  • Craniofacial and skeletal defects
  • Craniofacial dysostosis, fibrous metaphyseal defects ... see Osteoglophonic dwarfism
  • Craniosynostosis - alopecia - brain defect
  • Craniosynostosis mental retardation heart defects ... see Craniosynostosis - congenital heart disease - mental retardation
  • Craniosynostosis with radial defects ... see Craniosynostosis radial aplasia syndrome
  • Craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects ... see Calabro syndrome
  • Crying facies-cardiac defect ... see Cayler syndrome
  • Cystin transport, protein defect of ... see Cystinosis
  • Cystinosin, defect of ... see Nephropathic cystinosis

    D

  • Dandy-Walker-like malformation with atrioventricular septal defect ... see 3C syndrome
  • Deafness - enamel hypoplasia - nail defects
  • Defect 11 syndrome ... see Potocki-Shaffer syndrome
  • Defect in leucine metabolism ... see HMG-CoA lyase deficiency
  • Defect in metabolism of cystatin C ... see Amyloidosis VI
  • Defect in synthesis of adenosylcobalamin
  • Defective apolipoprotein B-100
  • Defective apolipoprotein B-100, familial ... see Hypercholesterolemia due to arg3500 mutation of Apo B-100
  • Defective expression of HLA class 1
  • Defective expression of HLA class 2
  • Defective Ligand Apolipoprotein B-100, Familial ... see Defective apolipoprotein B-100
  • Dense granules defects ... see Storage pool platelet disease
  • Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies ... see Rommen-Mueller-Sybert syndrome
  • Diaphragmatic defect - limb deficiency - skull defect
  • Diaphragmatic hernia - upper limb defects
  • Dilated cardiomyopathy with conduction defect ... see Idiopathic dilation cardiomyopathy
  • Dwarfism, micromelic with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects ... see Spondyloepimetaphyseal dysplasia, micromelic
  • Dysraphism - cleft lip palate - limb reduction defects

    E

  • Early constraint defects ... see Amniotic Bands
  • Ectrodactyly of lower limbs, congenital heart defect and characteristic facies ... see Ectrodactyly - cardiopathy - dysmorphism
  • Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum ... see Saal-Bulas syndrome
  • Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery ... see Kasznica-Carlson-Coppedge syndrome
  • Encephalopathy, Fatal Infatnile, with Mitochondrial Respiratory Chain Defects ... see Pontocerebellar Hypoplasia Type 6
  • Endocardial septal defects ... see Atrioventricular septal defect
  • Enterocyte intrinsic factor receptor, defect of ... see Megaloblastic anemia
  • Eye defects - arachnodactyly - cardiopathy

    F

  • Familial defective apolipoprotein B-100 ... see Defective apolipoprotein B-100
  • Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects ... see Cranio osteoarthropathy
  • Fatal infantile encephalopathy with mitochondrial respiratory chain defects ... see Pontocerebellar Hypoplasia Type 6

    G

  • GABA metabolic defect ... see SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
  • Global developmental delay - osteopenia - ectodermal defect
  • Glucose transport defect, blood-brain barrier
  • Glutamate and aspartate transport defect ... see Dicarboxylicaminoaciduria
  • Glutamate-aspartate transport defect ... see Dicarboxylicaminoaciduria
  • Goldenhar syndrome with ipsilateral radial defect ... see Microsomia - hemifacial - radial defects

    H

  • Hair defect photosensitivity mental retardation
  • Hair defect with photosensitivity and mental retardation
  • Heart defect ... see Sonoda syndrome
  • Heart defect round face congenital retarded development ... see Sonoda syndrome
  • Heart defect tongue hamartoma polysyndactyly ... see Orstavik-Lindemann-Solberg syndrome
  • Heart defect, tongue hamartoma and polysyndactyly
  • Heart defects - limb shortening
  • Heart septal defects, ventricular ... see Ventricular septal defect
  • Hemifacial microsomia with radial defects ... see Microsomia - hemifacial - radial defects
  • Hemochromatosis due to defect in ferroportin ... see Hemochromatosis type 4
  • Hemochromatosis due to defect in transferrin receptor 2 ... see Hemochromatosis type 3
  • Hereditary Branchial Arch Defects ... see Aksu von Stockhausen syndrome
  • Hereditary bundle branch system defect ... see Heart block progressive, familial
  • Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect ... see Hirschsprung disease - polydactyly - heart disease
  • Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect ... see Laurence-Prosser-Rocker syndrome
  • Histidinuria, renal tubular defect
  • Homocystinuria due to defect in methylation (cbl g)
  • Homocystinuria due to defect in methylation cbl e
  • Homocystinuria due to defect in methylation type cbl E ... see Homocytsinuria due to defect in methylation cbl e
  • Homocystinuria due to defect in methylation type cbl G ... see Homocystinuria due to defect in methylation (cbl g)
  • Homocystinuria due to defect in methylation, MTHFR deficiency ... see Methylene tetrahydrofolate reductase deficiency
  • Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cbIE complementation type ... see Methylcobalamin deficiency, cbl E complementation type
  • Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type ... see Methylcobalamin deficiency cbl G type
  • Homocytsinuria due to defect in methylation cbl e
  • Homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects ... see Abuelo Forman Rubin Syndrome
  • Hyperbrachycephaly, short face, fused cervical vertebrae, bone defects, and destruction of periodontium ... see Bazopoulou-Kyrkanidou syndrome
  • Hyperphenylalaninemia caused by a defect in biopterin metabolism ... see Tetrahydrobiopterin Deficiency
  • Hyperthermia induced defects
  • Hyperthermia-induced spectrum of defects ... see Hyperthermia induced defects
  • Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport defect ... see Thyroid hormone plasma membrane transport defect
  • Hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart ... see DiGeorge syndrome
  • Hypoplasia of Depressor Anguli Oris Muscle with Cardiac Defects ... see Cayler syndrome
  • Hypothyroidism due to iodide transport defect

    I

  • Immotile cilia syndrome, due to defective radial spokes
  • Immune defect due to absence of thymus
  • Immunodeficiency due to defect in MAPBP-interacting protein
  • Intractable diarrhea due to congenital enterocyte defects ... see Intractable diarrhea with enterocytes assembly abnormalities, congenital, familial

    L

  • Laron syndrome due to postreceptor defect ... see Laron syndrome type 2
  • Laterality defects dominant
  • Leucine metabolism defect ... see HMG-CoA lyase deficiency
  • Leucocyte adhesion defect ... see Leukocyte Adhesion Defect
  • Leukocyte Adhesion Defect
  • Limb reduction defect
  • Limb reduction defect (generic term)
  • Limb transversal defect - cardiac anomaly
  • Limb, scalp and skull defects ... see Adams-Oliver Syndrome
  • Lipid transport defect of intestine ... see Chylomicron Retention Disease
  • Lissencephaly, type 1, isolated, without known genetic defects
  • Lobster-claw with ectodermal defects syndrome ... see EEC syndrome
  • Lower mesodermal defects ... see Mesodermal defects lower type
  • Lung agenesis heart defect thumb anomalies ... see Manouvrier syndrome
  • Lung herniation - congenital defect of sternum
  • Lung herniation congenital defect of sternem ... see Lung herniation - congenital defect of sternum
  • Lymphedema, atrial septal defect, and characteristic facial changes ... see Irons-Bhan syndrome
  • Lymphedema, cardiac septal defects and characteristic facies ... see Lymphoedema - atrial septal defects - facial changes
  • Lymphoedema - atrial septal defects - facial changes
  • Lysosomal cystine transport protein, defect of ... see Nephropathic cystinosis
  • Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues ... see Fucosidosis

    M

  • Magnesium, defect in renal tubular transport of ... see Hypomagnesemia primary
  • Malabsorption due to bile acid synthesis defects, idiopathic
  • Male pseudohermaphroditism due to defective LH molecule
  • Male pseudohermaphroditism due to LH defects ... see Male pseudohermaphroditism due to defective LH molecule
  • Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect ... see Smith-Lemli-Opitz syndrome, type 2
  • Mental and growth retardation, congenital defects, heart abnormalities, intestinal malrotation, characteristic facies ... see Kapur-Toriello syndrome
  • Mental retardation - myopathy - short stature - endocrine defect
  • Mental retardation short stature heart and skeletal defects ... see Mental retardation - short stature - heart and skeletal anomalies
  • Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure ... see Lowry-Maclean syndrome
  • Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect ... see McDonough syndrome
  • Mental retardation, spasticity and transverse limb defects ... see Mental retardation - spasticity - ectrodactyly
  • Mesodermal defects lower type
  • Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl
  • Methylmalonic aciduria, synthesis defect of AdoCbl and MeCbl ... see Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl
  • Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type ... see Methylmalonic acidemia, cobalamin A deficiency
  • Microcephaly brain defect spasticity hypernatremia
  • Microcephaly cardiac defect lung malsegmentation ... see Ellis-Yale-Winter syndrome
  • Microcephaly with chemotactic defect and transient hypogammaglobulinemia ... see Say-Barber-Miller syndrome
  • Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis ... see Ellis-Yale-Winter syndrome
  • Microcephaly, hypotonia, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, kyphoscoliosis, osteoporosis ... see Pena-Shokeir syndrome Type 2
  • Microgastria limb reduction defect ... see Congenital microgastria limb reduction defect
  • Microgastria-limb reduction defects association ... see Congenital microgastria limb reduction defect
  • Microphthalmia with linear skin defects ... see Microphthalmia, syndromic 7
  • Microsomia - hemifacial - radial defects
  • Midline development field defects ... see Schisis association
  • Midline field defects
  • Mirror hands and feet and nasal defects ... see Mirror hand syndrome
  • Mirror hands and feet with nasal defects ... see Mirror hand syndrome
  • Mirror hands feet nasal defects ... see Mirror hand syndrome
  • Mirror polydactyly - segmentation and limbs defects
  • Mirror polydactyly - vertebral segmentation - limbs defects
  • Mullerian duct-renal-cervicothoracic-upper limb defects ... see Klippel Feil deformity conductive deafness absent vagina
  • Multiple Craniofacial and Skeletal Defects ... see Mastroiacovo de rosa satta syndrome
  • Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects ... see Teeth noneruption of with maxillary hypoplasia and genu valgum
  • Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects ... see Teeth noneruption of with maxillary hypoplasia and genu valgum

    N

  • Neural tube defect
  • Neural tube defect, folate-sensitive
  • Neural tube defects X-linked

    O

  • OAVS with radial defect ... see Microsomia - hemifacial - radial defects
  • Oculoauriculovertebral spectrum with radial defect ... see Microsomia - hemifacial - radial defects
  • Odonto-onycho-hypohidrotic dysplasia, midline scalp defects ... see Tuffli-Laxova syndrome
  • OFD syndrome with tibial defects ... see Oral facial digital syndrome, type 4
  • Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects ... see Omphalocele - exstrophy - imperforate anus
  • Overgrowth radial ray defect arthrogryposis

    P

  • Partial atrioventricular septal defect ... see Partial atrioventricular canal
  • PDS, defective biosynthesis of ... see Ehlers-Danlos syndrome, progeroid form
  • PDS, defective biosynthesis of dermatan sulfate proteoglycan ... see Ehlers-Danlos syndrome, progeroid form
  • Peroxisomal defects
  • Photosensitivity with defective DNA synthesis ... see Xeroderma pigmentosum, variant type
  • Piebald trait neurologic defects ... see Telfer-Sugar-Jaeger syndrome
  • Piebald-neurologic defect ... see Telfer-Sugar-Jaeger syndrome
  • Pierre Robin sequence - congenital heart defect - talipes
  • Platelet defects and oculocutaneous albinism ... see Hermansky-Pudlak syndrome type 2
  • Polyneuropathy - hand defect
  • Protein intolerance defective transport of basic amino acids ... see Dibasic aminoaciduria 2
  • Proteodermatan sulfate (PDS), defective biosynthesis of ... see Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency
  • Proteodermatan sulfate, defective biosynthesis of ... see Ehlers-Danlos syndrome, progeroid form
  • Proteus like syndrome mental retardation eye defect
  • Proteus like syndrome mental retardation eye defects ... see Proteus like syndrome mental retardation eye defect
  • Proteus-Like syndrome with mental retardation and eye defects ... see Cohen-Hayden syndrome
  • Pterygia, Heart defects, Autosomal recessive inheritance, Vertebral defects, Ear anomalies, and Radial defects ... see Powell-Chandra-Saal syndrome
  • Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect ... see Anophthalmia with pulmonary hypoplasia
  • Pulmonary atresia with ventricular septal defect
  • Pulmonary hypoplasia, hypoplasia of the pulmonary Artery, agonadism, Omphalocele/diaphragmatic defect, and Dextrocardia ... see Kennerknecht-Sorgo-Oberhoffer syndrome

    R

  • Radial defect - Robin sequence
  • Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia ... see Ivic Syndrome
  • Red cell phospholipid defect with hemolysis
  • Red-green color vision defects
  • Reductional transverse limb defects
  • Renal agenesis - meningomyelocele - mullerian defect
  • Renal carnitine transport defect ... see Carnitine transporter deficiency
  • Renal dysplasia - limb defects syndrome
  • Renal dysplasia limb defects ... see Renal dysplasia - limb defects syndrome
  • Rhizomelic shortness with clavicular defect ... see Cleidorhizomelic syndrome
  • Rib gap defects with micrognathia ... see Cerebrocostomandibular Syndrome
  • Right Pulmonary Artery, Anomalous Origin Of, With Ventricular Septal Defect, Patent Foramen Ovale and Patent Ductus Arteriosus ... see Right pulmonary artery, anomalous origin of, familial
  • Right ventricle origin of both great arteries, infracristal ventricular septal defect, absence of pulmonic stenosis ... see Double outlet - right ventricle II
  • Right ventricular origin of both great arteries, subaortic ventricular defect, pulmonic stenosis ... see Double outlet - right ventricle IV
  • Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development ... see Sonoda syndrome

    S

  • Sacral defect and anterior sacral meningocele
  • Sacral Defect Anterior Meningocele ... see Sacral defect and anterior sacral meningocele
  • Sacral defect anterior sacral meningocele ... see Sacral defect and anterior sacral meningocele
  • Sacral meningocele - conotruncal heart defects
  • Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck ... see Sacral meningocele - conotruncal heart defects
  • Scalp defect, congenital ... see Aplasia Cutis Congenita
  • Scalp defects - postaxial polydactyly
  • Scalp defects with ectrodactyly ... see Adams-Oliver Syndrome
  • Scalp defects, congenital with distal limb reduction anomalies ... see Adams-Oliver Syndrome
  • Scalp defects, congenital, with distal limb anomalies ... see Adams-Oliver Syndrome
  • Selective T-cell defect ... see ZAP70 deficiency
  • Short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect ... see Short ribs - craniosynostosis - polysyndactyly
  • Short stature - pituitary and cerebellar defects - small sella turcica
  • Short stature heart defect craniofacial anomalies ... see Rommen-Mueller-Sybert syndrome
  • Short stature mental retardation eye defects
  • Short stature mental retardation eye defects absent patella ... see Singh-Chhaparwal-Dhanda syndrome
  • Short stature microcephaly heart defect ... see D ercole syndrome
  • Short stature, heart defect and craniofacial anomalies ... see Rommen-Mueller-Sybert syndrome
  • Shoulder and girdle defect - mental retardation, familial
  • Shoulder girdle defect - mental retardation, familial
  • Shoulder girdle defect mental retardation familial type ... see Shoulder and girdle defect - mental retardation, familial
  • Situs inversus, complex cardiac defects, and splenic defects, X-linked ... see Heterotaxy, visceral, X-linked
  • Spherocytosis, severe atypical, due to suspected ankyrin defect ... see Hereditary spherocytosis
  • Splenogonadal Fusion Limb Defect Syndrome ... see Splenogonadal fusion, limb defects, micrognathia
  • Splenogonadal fusion limb defects micrognatia ... see Splenogonadal fusion, limb defects, micrognathia
  • Splenogonadal Fusion with Limb Defects and Micrognathia ... see Splenogonadal fusion, limb defects, micrognathia
  • Splenogonadal fusion, limb defects, micrognathia

    T

  • Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava ... see Pierre Robin sequence - congenital heart defect - talipes
  • Terminal transverse defects of hand, unilateral ... see Adactylia unilateral
  • Terminal transverse defects of the limbs associated with congenital heart malformations ... see Limb transversal defect - cardiac anomaly
  • Throacoabdominal wall defect ... see Pentalogy of Cantrell
  • Thyroid hormone plasma membrane transport defect
  • Thyroid hormone resistance due to T4 plasma membrane transport defect ... see Thyroid hormone plasma membrane transport defect
  • Transketolase defect ... see Wernicke-Korsakoff syndrome
  • Trigonomacrocephaly - tibial defect - polydactyly

    U

  • Ulnar/fibula ray defect ... see Morava-Mehes syndrome
  • Unilateral terminal transverse defects of hand ... see Adactylia unilateral dominant
  • Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects ... see Cyprus facial neuromusculoskeletal syndrome
  • Upper limb defect eye and ear abnormalities

    V

  • Valine metabolic defect ... see 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency
  • Ventricular septal defect
  • Vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects ... see VACTERL association
  • Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial dysplasia ... see VATER association
  • Vertebral Ossification, defect in, with Nephrogenic Rests ... see Diaphanospondylodysostosis
  • Vertebral, radial, congenital heart, and ear defects ... see Powell-Chandra-Saal syndrome

    X

  • Xeroderma talipes enamel defects
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