Some conditions that are not Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidismAbnormal fusion of dental cementum with alveolar boneAbsence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearanceAbsence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactylyAbsence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathyAbsence of ulna and fibula with severe limb deficiencyAbsence of upper and lower limbs with pulmonary hypoplasiaAbsence or underdevelopment of the 6th and 7th cranial nervesAbsence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomaliesAbsent enamel, nephrocalcinosis and apparently normal calcium metabolismAbsent eyebrows and eyelashes with mental retardationAbsent middle phalanges of digits 2-5 with nail dysplasiaAbsent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardationAbsent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndromeAbsent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palateAcetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxiaAcetyl-CoA alpha-glucosaminide n-acetyltransferase deficiencyAchondroplasia so-called and severe combined immunodeficiencyAchondroplasia-severe combined immunodeficiency syndromeAchondroplasia-Swiss type agammaglobulinemia syndromeAcral dysostosis with facial and genital abnormalitiesAcral renal ectodermal dysplasia lipoatrophic diabetesAcrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardationAcromegaloid facial appearance syndrome and hypertrichosisAcroosteolysis with osteoporosis and changes in skull and mandibleAcrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetesACTH-independent macronodular adrenocortical hyperplasiaAcute encephalitis with refractory repetitive partial seizuresAcute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteinsAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsAcute infantile liver failure-multisystemic involvement syndromeAcute inflammatory demyelinating polyradiculoneuropathyAcute myeloid leukaemia with myelodysplasia-related featuresAcute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variantsAcute non-herpetic encephalitis with severe refractory status epilepticusAcute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic traumaAcyl-CoaA dehydrogenase family, member 8, deficiency ofAdenosine deaminase deficient severe combined immunodeficiencyAdermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalitiesADNP-related syndromic intellectual disability-autism spectrum disorderAdrenal hyperfunction resulting from pituitary acth excessAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCYAdrenocorticotropic hormone-independent macronodular adrenal hyperplasiaAdult-onset autosomal dominant demyelinating leukodystrophyAdult-onset immunodeficiency due to anti-interferon-gamma autoantibodyAdult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma AutoantibodiesAdult-onset leukodystrophy with neuroaxonal spheroidsAdult-onset leukoencephalopathy with axonal spheroids and pigmented gliaAdult-onset recurrent respiratory papillomatosis (type)Adynamia episodica hereditaria with or without myotoniaAgammaglobulinemia and isolated growth hormone deficiency, x-linkedAgenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomaliesAgenesis of corpus callosum with facial anomalies and Robin sequenceAgenesis of corpus callosum with peripheral neuropathyAgenesis of the corpus callosum with mental retardation and osseous lesionsAgenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndromeAgnathia, microstomia, synotia and cardiac and pulmonary maldevelopmentAHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeAlacrima-achalasia-adrenal insufficiency neurologic disorderAlacrimia-choreoathetosis-liver dysfunction syndromeAl-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeAlbinism with hemorrhagic diathesis and pigmented reticuloendothelial cellsAlbright hereditary osteodystrophy with multiple hormone resistanceAlbright hereditary osteodystrophy without multiple hormone resistanceAlcohol-Related Neurodevelopmental Disorder (ARND) - typeAldosterone deficiency due to defect in 18 hydroxylaseAlopecia congenita with hyperkeratosis of the palms and solesAlopecia universalis, onychodystrophy, and total vitiligoAlopecia with mild to moderate intellectual deficitAlopecia, psychomotor epilepsy, pyorrhea, and mental subnormalityAlopecia-contractures-dwarfism intellectual disabilitysyndromeAlopecia-epilepsy-intellectual disability syndrome, Moynahan typeAlpers diffuse degeneration of cerebral gray matter with hepatic cirrhosisAlpha thalassemia intellectual disability syndrome, nondeletion type, X-linkedAlpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunityAlpha-dystroglycan-related limb-girdle muscular dystrophy R16Alpha-lecithin cholesterol acyltransferase deficiencyAlpha-N-acetylgalactosaminidase deficiency adult onsetAlveolar capillary dysplasia with misalignment of pulmonary veinsAlveolar capillary dysplasia with pulmonary venous misalignmentAmelogenesis imperfecta 3, hypoplastic type (formerly)AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)AML with t(15;17)(q22;q12);(PML/RARalpha) and variantsAmyloid cranial neuropathy with lattice corneal dystrophyAmyloidosis cerebral with spongiform encephalopathyAmyloidosis of gingiva and conjunctiva with mental retardationAmyotrophic lateral sclerosis, Parkinsonism/Dementia complex of GuamAmyotrophy, hereditary neuralgic, with predilection for brachial plexusAnal anomalies, renal tract abnormalities, genital malformations, and syndactylyAndrogen insensitivity, partial, with or without breast cancerAnemia, hypochromic microcytic, with defect in iron metabolismAnesthetic-induced malignant hyperpyrexia in childrenAngioimmunoblastic with dysproteinemia lymphadenopathyAnhidrotic ectodermal dysplasia with immune deficiencyAnhidrotic ectodermal dysplasia, autosomal recessiveAniridia associated with mental retardation and other eye abnormalitiesAniridia partial with unilateral renal agenesis and psychomotor retardationAniridia, ectopia lentis, abnormal upper incisors and mental retardationAniridia-ptosis-intellectual disability-familial obesity syndromeAnisospondylic camptomicromelic dwarfism Rolland-Desbuquois typeAnisospondylic camptomicromelic dwarfism Silverman-Handmaker typeAnkyloblepharon ectodermal defects cleft lip/palateAnoctamin-5-related limb-girdle muscular dystrophy R12Anonychia and absence/hypoplasia of distal phalangesAnophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitaliaAnophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorderAnophthalmia/microphthalmia and pulmonary hypoplasiaAnotia/microtia, upslanted fissures, sutural synostosis,multipleAnterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosisAntineutrophil cytoplasmic antibody-associated vasculitisAnti-neutrophil cytoplasmic antibody-associated vasculitisAnus, imperforate, with hand, foot and ear anomaliesAortic aneurysm/aortic dissection and patent ductus arteriosusAortic arch anomaly-facial dysmorphism-intellectual disability syndromeAortic arch anomaly-peculiar facies-intellectual disability syndromeAphalangy of the hands and feet, hemivertebrae, and visceral malformationsAplasia cutis congenita with gastrointestinal atresiaAplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactylyApraxia, oculomotor, with congenital contractures and muscle atrophyArachnodactyly, abnormal ossification and mental retardationArachnodactyly, joint laxity, and spondylolisthesisArachnodactyly, receding lower jaw and joint laxity of hands/feetArachnodactyly-intellectual disability-dysmorphism syndromeArterial calcification and distal joint calcificationArteriovenous aneurysm of mid-brain and retina, facial nevi and mental changesArthogryposis with oculomotor limitation and electroretinal abnormalitiesArthrogryposis - ectodermal dysplasia - other anomaliesArthrogryposis multiplex congenita associated with lissencephalyArthrogryposis multiplex congenita distal type II with craniofacial abnormalitiesArthrogryposis multiplex congenita with epileptic seizures and migrational brain disorderArthrogryposis multiplex congenita with pulmonary hypoplasiaArthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findingsArthrogryposis multiplex congenita, renal dysfunction, and cholestasisArthrogryposis multiplex congenita-whistling face syndromeArthrogryposis- oculomotor limitation-electroretinal anomalies syndromeArthrogryposis with oculomotor limitation and electroretinal abnormalitiesArthrogryposis-oculomotor limitation-electroretinal anomalies syndromeArthrogryposis-renal dysfunction-cholestasis syndromeArthropathy, progressive pseudorheumatoid, of childhoodArthrosis, flat face, hypotonia, short neck and macrocephalyAssociation of cutaneous vascular malformations and different pigmentary disordersAssociation of muscular pseudohypertrophy and hypothyroidism in childrenAssociation of skeletal defects resembling achondrogenesis with generalized bone sclerosisAsymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresiaAsymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresiaAsymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toesAtaxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiencyAtaxia-deafness-retardation syndrome with ketoaciduriaAtherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic diseaseAtrio-ventricular and ventriculo-arterial double discordiaAtrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and solesAttenuated MPS (subtype; formerly known as mild MPS II)Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)Atypical Gaucher disease due to saposin C deficiencyAtypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormalityAtypical mycobacterial infection, familial disseminatedAtypical Philadelphia-negative chronic myeloid leukemiaAutism, dementia, ataxia, and loss of purposeful hand useAutoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeAutoimmune hemolytic anemia and autoimmune thrombocytopeniaAutoimmune lymphoproliferative syndrome type 1, autosomal dominantAutoimmune lymphoproliferative syndrome without FAS mutationsAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)Autoinflammation, panniculitis, and dermatosis syndromeAutosomal dominant acute necrotizing encephalopathyAutosomal dominant adult-onset demyelinating leukodystrophyAutosomal dominant axonal Charcot-Marie-Tooth diseaseAutosomal dominant blepharophimosis with multiple congenital anomaliesAutosomal dominant cerebellar ataxia with mental retardationAutosomal dominant cerebellar ataxia, deafness and narcolepsyAutosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2Autosomal dominant Charcot-Marie-Tooth disease type 2LAutosomal dominant Charcot-Marie-Tooth disease type 2NAutosomal dominant Charcot-Marie-Tooth disease type 2OAutosomal dominant Charcot-Marie-Tooth disease type 2QAutosomal dominant childhood-onset proximal spinal muscular atrophy with contracturesAutosomal dominant childhood-onset proximal spinal muscular atrophy without contracturesAutosomal dominant deafness-onychodystrophy syndromeAutosomal dominant demyelinating Charcot-Marie-Tooth diseaseAutosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine typesAutosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndromeAutosomal dominant form of benign neonatal seizuresAutosomal dominant hereditary motor and sensory neuropathy type 2 with giant axonsAutosomal dominant intermediate Charcot-Marie-Tooth diseaseAutosomal dominant intermediate Charcot-Marie-Tooth disease type AAutosomal dominant intermediate Charcot-Marie-Tooth disease type BAutosomal dominant intermediate Charcot-Marie-Tooth disease type CAutosomal dominant intermediate Charcot-Marie-Tooth disease type DAutosomal dominant intermediate Charcot-Marie-Tooth disease type EAutosomal dominant intermediate Charcot-Marie-Tooth disease type FAutosomal dominant leukoencephalopathy with neuroaxonal spheroidsAutosomal dominant limb-girdle muscular dystrophy type 1CAutosomal dominant limb-girdle muscular dystrophy type 1DAutosomal dominant limb-girdle muscular dystrophy type 1EAutosomal dominant limb-girdle muscular dystrophy type 1FAutosomal dominant limb-girdle muscular dystrophy type 1GAutosomal dominant limb-girdle muscular dystrophy type 1HAutosomal dominant lower extremity-predominant spinal muscular atrophy-1Autosomal dominant medullary cystic kidney disease (former)Autosomal dominant medullary cystic kidney disease type 2Autosomal dominant medullary cystic kidney disease type 2 (former)Autosomal dominant nonnuclear polymorphic congenital cataractAutosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactylyAutosomal dominant palmoplantar hyperkeratosis and congenital alopeciaAutosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadiasAutosomal dominant primary hypomagnesemia with hypocalciuriaAutosomal Dominant Retinal Vasculopathy with Cerebral LeukodystrophyAutosomal dominant SLC4A1-associated distal renal tubular acidosisAutosomal dominant sleep-related hypermotor epilepsyAutosomal dominant spinal muscular atrophy with lower extremity predominanceAutosomal dominant tubulointerstitial kidney disease, MUC1-associatedAutosomal dominant tubulointerstitial kidney disease, REN-relatedAutosomal Dominant Tubulointerstitial Kidney Disease, UMOD-RelatedAutosomal recessive adducted thumb-club foot syndromeAutosomal recessive ataxia due to coenzyme Q10 deficiencyAutosomal recessive ataxia due to ubiquinone deficiencyAutosomal recessive axonal Charcot-Marie-Tooth disease type 2KAutosomal recessive cerebellar ataxia - blindness - deafnessAutosomal recessive cerebellar ataxia-blindness-deafness syndromeAutosomal recessive cerebelloparenchymal disorder type 3Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotoniaAutosomal recessive congenital hypomyelinating neuropathyAutosomal recessive deafness-onychodystrophy syndromeAutosomal recessive demyelinating Charcot-Marie-ToothAutosomal recessive distal renal tubular acidosis with deafnessAutosomal recessive distal renal tubular acidosis with hearing lossAutosomal recessive dystrophic epidermolysis bullosa generalisata gravisAutosomal recessive dystrophic epidermolysis bullosa generalisata mitisAutosomal recessive dystrophic epidermolysis bullosa, generalized otherAutosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens typeAutosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)Autosomal recessive early-onset inflammatory bowel diseaseAutosomal recessive form of cleidocranial dysostosisAutosomal recessive hereditary thrombophilia due to protein C deficiencyAutosomal recessive intermediate Charcot-Marie-Tooth disease type AAutosomal recessive intermediate Charcot-Marie-Tooth disease type BAutosomal recessive lethal chondrodystrophy with congenital hydropsAutosomal recessive limb-girdle muscular dystrophy due to plectin deficiencyAutosomal recessive limb-girdle muscular dystrophy type 2CAutosomal recessive limb-girdle muscular dystrophy type 2IAutosomal recessive limb-girdle muscular dystrophy type 2JAutosomal recessive limb-girdle muscular dystrophy type 2KAutosomal recessive limb-girdle muscular dystrophy type 2LAutosomal recessive limb-girdle muscular dystrophy type 2MAutosomal recessive limb-girdle muscular dystrophy type 2NAutosomal recessive limb-girdle muscular dystrophy type 2OAutosomal recessive limb-girdle muscular dystrophy type 2PAutosomal recessive limb-girdle muscular dystrophy type 2QAutosomal recessive limb-girdle muscular dystrophy type 2SAutosomal recessive limb-girdle muscular dystrophy type 2TAutosomal recessive Melnick-Needles syndrome (formerly)Autosomal recessive neuronal ceroid lipofuscinosis 4AAutosomal recessive non-lethal multiple pterygium syndromeAutosomal recessive nonsyndromic congenital nail disorder-4Autosomal recessive nonsyndromic mental retardation-18Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemiaAutosomal recessive progressive external ophthalmoplegiaAutosomal recessive sensorineural hearing impairment and goiterAutosomal recessive sensorineural hearing impairment, dizziness, and hypodontiaAutosomal recessive spastic ataxia - optic atrophy - dysarthriaAutosomal recessive spastic ataxia of Charlevoix-SaguenayAutosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeAutosomal recessive spinocerebellar ataxia-blindness-deafness syndromeAutosomal recessive spinocerebellar ataxia-blindness-hearing loss syndromeAutosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changesAutosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontiaAutosomal recessive thrombophilia due to congenital protein C deficiencyAutosomal recessive thrombophilia due to congenital protein C deficiencyAutosomal recessive thrombophilia due to PC deficiencyAutosomal recessive thrombophilia due to PC deficiencyAxonal Charcot-Marie-Tooth disease with pyramidal involvementAzoospermia obstructive and chronic sinopulmonary infections

Absent radii and thrombocytopenia - See TAR syndrome.

Matt and his wife Cristina knew almost right away that their son Bertrand had some difficulties, which became worse over time.

When families band together, their efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and unfortunately many patient lifetimes) to a year or two.Matt Might and his family provide one such genome sequencing story. The Genetic and Rare Diseases Information Center (GARD) was created in 2002 by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) - two agencies at the National Institutes of Health (NIH).GARD provides immediate, virtually round-the-clock access to experienced information specialists who can furnish current and accurate information …

Knowing Bertrand's symptoms and mutations quickly allowed for the identification of at least 15 other children with the same disease, and the establishment of the Matt Might and his family provide one such genome sequencing story. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Many families have gone through years of "diagnostic odysseys," going from one specialist to another trying to find the root cause for their family member's rare disorder.

His disorder was so rare that mutations in this gene had never been documented, and he was the first known human to lack this protein. Get the latest public health information from CDC: No hemos publicado información en español sobre enfermedades que comiencen con esta letra. Abuelo Forman Rubin syndrome - See …

His disorder was so rare that mutations in this gene had never been documented, and he was the first known human to lack this protein. Genomics is ending diagnostic odysseys for patients with rare diseases.Did you know that there are truly rare people born all the time? Knowing Bertrand's symptoms and mutations quickly allowed for the identification of at least 15 other children with the same disease, and the establishment of the Another inspiring story of how genome sequencing can transform the life of someone with a rare disease comes from Along with their colleagues, the couple have already conducted a groundbreaking study on the impact of Another inspiring story of how genome sequencing can transform the life of someone with a rare disease comes from Along with their colleagues, the couple have already conducted a groundbreaking study on the impact of If you have a family member who has seen a number of medical professionals but not yet received a diagnosis, they could apply to the Just like Sonia and Bertrand, he has contributed to medical research by allowing his genome to be sequenced and studied.If you have a family member who has seen a number of medical professionals but not yet received a diagnosis, they could apply to the Just like Sonia and Bertrand, he has contributed to medical research by allowing his genome to be sequenced and studied.Enter your email address to receive updates about the latest advances in genomics research. In the last 10 years, a large number of patient groups have formed after the genomic cause has been identified for a specific rare disorder. It is one of the rarest-known genetic diseases with only around 500 cases known in medical history. Symptoms: Indications include childhood obesity, sensorineural hearing loss, and vision impairment. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment The ability to read the human genome quickly and cheaply has led to substantial advances in discovering the causes of rare disorders. So, he helped define the list of symptoms observed when someone does not have the NGLY1 protein, including an inability to produce tears or properly move some muscles.

Perhaps more importantly, many of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to participate in scientific studies. In the last 10 years, a large number of patient groups have formed after the genomic cause has been identified for a specific rare disorder. When families band together, their efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and unfortunately many patient lifetimes) to a year or two.Did you know that there are truly rare people born all the time? Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate - See Rapadilino syndrome. Por favor If you have problems viewing PDF files, download the latest version of Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names.