Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Lead Sponsor: Sanford Health

Collaborator: National Ataxia Foundation
International WAGR Syndrome Association
4p- Support Group
ML4 Foundation
Cornelia de Lange Syndrome Foundation
Stickler Involved People
Kawasaki Disease Foundation
Klippel-Feil Syndrome Alliance
Klippel-Feil Syndrome Freedom
Hyperacusis Research Limited
Hypersomnia Foundation
Kabuki Syndrome Network
Kleine-Levin Syndrome Foundation
Leiomyosarcoma Direct Research Foundation
Marinesco-Sjogren Syndrome Support Group - NORD
Mucolipidosis Type IV (ML4) Foundation
People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
Soft Bones Incorporated
American Multiple Endocrine Neoplasia Support
Atypical Hemolytic Uremic Syndrome Foundation
All Things Kabuki
Wiedemann-Steiner Syndrome Foundation
Breast Implant Victim Advocates
PROS Foundation
American Behcet's Disease Association
Alstrom United Kingdom
Athymia
Curing Retinal Blindness Foundation
HSAN1E Society
1p36 Deletion Support and Awareness
The Alagille Syndrome Alliance
Autoinflammatory Alliance
Beyond Batten
Bohring-Opitz Syndrome Foundation, INC
Cockayne Syndrome Network (Share and Care)
CRMO Foundation
Cure VCP Disease,INC
FOD Support
Cystinosis Research Foundation
Global DARE Foundation
Hypnic Jerk-Sleep Myoclonus Support Group
Jansen's Foundation
KCNMA1 Channelopathy International Advocacy Foundation
Kawasaki Disease Foundation Australia
Life with LEMS Foundation
Lowe Syndrome Association
The Malan Syndrome Foundation
Maple Syrup Urine Disease Family Support Group
International Association for Muscle Glycogen Storage Disease (IamGSD)
Myhre Syndrome Foundation
DNM1 Families
Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
The PBCers Organization
Pitt Hopkins Research Foundation
Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc
Recurrent Meningitis Association
Recurrent Respiratory Papillomatosis Foundation
Remember the Girls
Smith-Kingsmore Syndrome Foundation
SPG Research Foundation
Team Telomere
Transient Global Amnesia Project
The Charlotte & Gwenyth Gray Foundation
The Cute Syndrome Foundation
The Maddi Foundation
White Sutton Syndrome Foundation
Zmynd11 Gene Disorder
Cauda Equina Foundation, Inc
Tango2 Research Foundation
Noah's Hope - Hope4Bridget Foundation
Project Sebastian
SMC1A Epilepsy Foundation
International Foundation for Gastrointestinal Disorders
Endosalpingiosis Foundation, Inc
International Sacral Agenesis/Caudal Regression Association (ISACRA)
Scheuermann's Disease Fund

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS: - Contact information: Name, Mailing Address, Phone Number, Email Address - Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity - Health information: Family History, Information related to Diagnosis De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts. A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases. Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG. The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS. If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS. CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

• Rare Disorders
• Undiagnosed Disorders
• Disorders of Unknown Prevalence
• Cornelia De Lange Syndrome
• Prenatal Benign Hypophosphatasia
• Perinatal Lethal Hypophosphatasia
• Odontohypophosphatasia
• Adult Hypophosphatasia
• Childhood-onset Hypophosphatasia
• Infantile Hypophosphatasia
• Hypophosphatasia
• Kabuki Syndrome
• Bohring-Opitz Syndrome
• Narcolepsy Without Cataplexy
• Narcolepsy-cataplexy
• Hypersomnolence Disorder
• Idiopathic Hypersomnia Without Long Sleep Time
• Idiopathic Hypersomnia With Long Sleep Time
• Idiopathic Hypersomnia
• Kleine-Levin Syndrome
• Kawasaki Disease
• Leiomyosarcoma
• Leiomyosarcoma of the Corpus Uteri
• Leiomyosarcoma of the Cervix Uteri
• Leiomyosarcoma of Small Intestine
• Acquired Myasthenia Gravis
• Addison Disease
• Hyperacusis (Hyperacousis)
• Juvenile Myasthenia Gravis
• Transient Neonatal Myasthenia Gravis
• Williams Syndrome
• Lyme Disease
• Myasthenia Gravis
• Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
• Isolated Klippel-Feil Syndrome
• Frasier Syndrome
• Denys-Drash Syndrome
• Beckwith-Wiedemann Syndrome
• Emanuel Syndrome
• Isolated Aniridia
• Axenfeld-Rieger Syndrome
• Aniridia-intellectual Disability Syndrome
• Aniridia - Renal Agenesis - Psychomotor Retardation
• Aniridia - Ptosis - Intellectual Disability - Familial Obesity
• Aniridia - Cerebellar Ataxia - Intellectual Disability
• Aniridia - Absent Patella
• Aniridia
• Peters Anomaly - Cataract
• Peters Anomaly
• Potocki-Shaffer Syndrome
• Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
• Silver-Russell Syndrome Due to Imprinting Defect of 11p15
• Silver-Russell Syndrome Due to 11p15 Microduplication
• Syndromic Aniridia
• WAGR Syndrome
• Wolf-Hirschhorn Syndrome
• 4p16.3 Microduplication Syndrome
• 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
• Autosomal Recessive Stickler Syndrome
• Stickler Syndrome Type 2
• Stickler Syndrome Type 1
• Stickler Syndrome
• Mucolipidosis Type 4
• X-linked Spinocerebellar Ataxia Type 4
• X-linked Spinocerebellar Ataxia Type 3
• X-linked Intellectual Disability - Ataxia - Apraxia
• X-linked Progressive Cerebellar Ataxia
• X-linked Non Progressive Cerebellar Ataxia
• X-linked Cerebellar Ataxia
• Vitamin B12 Deficiency Ataxia
• Toxic Exposure Ataxia
• Unclassified Autosomal Dominant Spinocerebellar Ataxia
• Thyroid Antibody Ataxia
• Sporadic Adult-onset Ataxia of Unknown Etiology
• Spinocerebellar Ataxia With Oculomotor Anomaly
• Spinocerebellar Ataxia With Epilepsy
• Spinocerebellar Ataxia With Axonal Neuropathy Type 2
• Spinocerebellar Ataxia Type 8
• Spinocerebellar Ataxia Type 7
• Spinocerebellar Ataxia Type 6
• Spinocerebellar Ataxia Type 5
• Spinocerebellar Ataxia Type 4
• Spinocerebellar Ataxia Type 37
• Spinocerebellar Ataxia Type 36
• Spinocerebellar Ataxia Type 35
• Spinocerebellar Ataxia Type 34
• Spinocerebellar Ataxia Type 32
• Spinocerebellar Ataxia Type 31
• Spinocerebellar Ataxia Type 30
• Spinocerebellar Ataxia Type 3
• Spinocerebellar Ataxia Type 29
• Spinocerebellar Ataxia Type 28
• Spinocerebellar Ataxia Type 27
• Spinocerebellar Ataxia Type 26
• Spinocerebellar Ataxia Type 25
• Spinocerebellar Ataxia Type 23
• Spinocerebellar Ataxia Type 22
• Spinocerebellar Ataxia Type 21
• Spinocerebellar Ataxia Type 20
• Spinocerebellar Ataxia Type 2
• Spinocerebellar Ataxia Type 19/22
• Spinocerebellar Ataxia Type 18
• Spinocerebellar Ataxia Type 17
• Spinocerebellar Ataxia Type 16
• Spinocerebellar Ataxia Type 15/16
• Spinocerebellar Ataxia Type 14
• Spinocerebellar Ataxia Type 13
• Spinocerebellar Ataxia Type 12
• Spinocerebellar Ataxia Type 11
• Spinocerebellar Ataxia Type 10
• Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
• Spinocerebellar Ataxia Type 1
• Spinocerebellar Ataxia - Unknown
• Spinocerebellar Ataxia - Dysmorphism
• Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
• Spasticity-ataxia-gait Anomalies Syndrome
• Spastic Ataxia With Congenital Miosis
• Spastic Ataxia - Corneal Dystrophy
• Spastic Ataxia
• Rare Hereditary Ataxia
• Rare Ataxia
• Recessive Mitochondrial Ataxia Syndrome
• Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
• Posterior Column Ataxia - Retinitis Pigmentosa
• Post-Stroke Ataxia
• Post-Head Injury Ataxia
• Post Vaccination Ataxia
• Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
• Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
• Non-hereditary Degenerative Ataxia
• Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
• Olivopontocerebellar Atrophy - Deafness
• NARP Syndrome
• Myoclonus - Cerebellar Ataxia - Deafness
• Multiple System Atrophy, Parkinsonian Type
• Multiple System Atrophy, Cerebellar Type
• Multiple System Atrophy
• Maternally-inherited Leigh Syndrome
• Machado-Joseph Disease Type 3
• Machado-Joseph Disease Type 2
• Machado-Joseph Disease Type 1
• Leigh Syndrome
• Late-onset Ataxia With Dementia
• Infection or Post Infection Ataxia
• GAD Ataxia
• Hereditary Episodic Ataxia
• Gliadin/Gluten Ataxia
• Friedreich Ataxia
• Fragile X-associated Tremor/Ataxia Syndrome
• Familial Paroxysmal Ataxia
• Exposure to Medications Ataxia
• Episodic Ataxia With Slurred Speech
• Episodic Ataxia Unknown Type
• Episodic Ataxia Type 7
• Episodic Ataxia Type 6
• Episodic Ataxia Type 5
• Episodic Ataxia Type 4
• Episodic Ataxia Type 3
• Episodic Ataxia Type 1
• Epilepsy and/or Ataxia With Myoclonus as Major Feature
• Early-onset Spastic Ataxia-neuropathy Syndrome
• Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
• Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
• Early-onset Ataxia With Dementia
• Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
• Dilated Cardiomyopathy With Ataxia
• Cataract - Ataxia - Deafness
• Cerebellar Ataxia, Cayman Type
• Cerebellar Ataxia With Peripheral Neuropathy
• Cerebellar Ataxia - Hypogonadism
• Cerebellar Ataxia - Ectodermal Dysplasia
• Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
• Brain Tumor Ataxia
• Brachydactyly - Nystagmus - Cerebellar Ataxia
• Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
• Autosomal Recessive Syndromic Cerebellar Ataxia
• Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
• Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
• Autosomal Recessive Spastic Ataxia
• Autosomal Recessive Metabolic Cerebellar Ataxia
• Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine
• Autosomal Recessive Ataxia, Beauce Type
• Autosomal Recessive Ataxia Due to Ubiquinone Deficiency
• Autosomal Recessive Ataxia Due to PEX10 Deficiency
• Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
• Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
• Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
• Autosomal Recessive Congenital Cerebellar Ataxia
• Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
• Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
• Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
• Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
• Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
• Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
• Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
• Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
• Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
• Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
• Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
• Autosomal Recessive Cerebellar Ataxia
• Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
• Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
• Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
• Autosomal Dominant Spastic Ataxia Type 1
• Autosomal Dominant Spastic Ataxia
• Autosomal Dominant Optic Atrophy
• Ataxia-telangiectasia Variant
• Ataxia-telangiectasia
• Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
• Autosomal Dominant Cerebellar Ataxia Type 4
• Autosomal Dominant Cerebellar Ataxia Type 3
• Autosomal Dominant Cerebellar Ataxia Type 2
• Autosomal Dominant Cerebellar Ataxia Type 1
• Autosomal Dominant Cerebellar Ataxia
• Ataxia-telangiectasia-like Disorder
• Ataxia With Vitamin E Deficiency
• Ataxia With Dementia
• Ataxia - Oculomotor Apraxia Type 1
• Ataxia - Other
• Ataxia - Genetic Diagnosis - Unknown
• Acquired Ataxia
• Adult-onset Autosomal Recessive Cerebellar Ataxia
• Alcohol Related Ataxia
• Multiple Endocrine Neoplasia
• Multiple Endocrine Neoplasia Type II
• Multiple Endocrine Neoplasia Type 1
• Multiple Endocrine Neoplasia Type 2
• Multiple Endocrine Neoplasia, Type IV
• Multiple Endocrine Neoplasia, Type 3
• Multiple Endocrine Neoplasia (MEN) Syndrome
• Multiple Endocrine Neoplasia Type 2B
• Multiple Endocrine Neoplasia Type 2A
• Atypical Hemolytic Uremic Syndrome
• Atypical HUS
• Wiedemann-Steiner Syndrome
• Breast Implant-Associated Anaplastic Large Cell Lymphoma
• Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
• Hemophagocytic Lymphohistiocytosis
• Behcet's Disease
• Alagille Syndrome
• Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
• Lowe Syndrome
• Pitt Hopkins Syndrome
• 1p36 Deletion Syndrome
• Jansen Type Metaphyseal Chondrodysplasia
• Cockayne Syndrome
• Chronic Recurrent Multifocal Osteomyelitis
• CRMO
• Malan Syndrome
• Hereditary Sensory and Autonomic Neuropathy Type Ie
• VCP Disease
• Hypnic Jerking
• Sleep Myoclonus
• Mollaret Meningitis
• Recurrent Viral Meningitis
• CRB1
• Leber Congenital Amaurosis
• Retinitis Pigmentosa
• Rare Retinal Disorder
• KCNMA1-Channelopathy
• Primary Biliary Cirrhosis
• ZMYND11
• Transient Global Amnesia
• Glycogen Storage Disease
• Alstrom Syndrome
• White Sutton Syndrome
• DNM1
• EIEE31
• Myhre Syndrome
• Recurrent Respiratory Papillomatosis
• Laryngeal Papillomatosis
• Tracheal Papillomatosis
• Refsum Disease
• Nicolaides Baraitser Syndrome
• Leukodystrophy
• Tango2
• Cauda Equina Syndrome
• Rare Gastrointestinal Disorders
• Achalasia-Addisonian Syndrome
• Achalasia Cardia
• Achalasia Icrocephaly Syndrome
• Anal Fistula
• Congenital Sucrase-Isomaltase Deficiency
• Eosinophilic Gastroenteritis
• Idiopathic Gastroparesis
• Hirschsprung Disease
• Rare Inflammatory Bowel Disease
• Intestinal Pseudo-Obstruction
• Scleroderma
• Short Bowel Syndrome
• Sacral Agenesis
• Sacral Agenesis Syndrome
• Caudal Regression
• Scheuermann Disease
• SMC1A Loss of Function Epilepsy

Sampling Method: Non-Probability Sample

Criteria:

Inclusion Criteria: - Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease Exclusion Criteria: - Diagnosis of a disease which is not rare

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Last Name: CoRDS Team

Phone: 1-877-658-9192

Email: [email protected]

Australia

United States

July 2020

Type: Sponsor

• Rare Diseases
• Neglected Diseases
• Orphan Diseases
• Rare Disease Research
• Registries
• WAGR Syndrome
• Ataxia
• Cornelia de Lange Syndrome
• Stickler Syndrome
• Ataxia Telangiectasia
• Kawasaki Disease
• Batten Disease
• Mucolipidosis IV
• Klippel-Feil Syndrome
• Multiple Endocrine Neoplasia
• Atypical Hemolytic Uremic Syndrome
• Undiagnosed
• Uncommon Disease
• Kabuki Syndrome
• Hypersomnia
• Hyperacusis
• Kleine-Levin Syndrome
• Marinesco-Sjogren Syndrome
• Leiomyosarcoma
• 4p-/Wolf-Hirschhorn Syndrome
• Hypophosphatasia
• Narcolepsy
• Wiedermann-Steiner Syndrome
• Breast Implant-Associated Anaplastic Large Cell Lymphoma
• Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA)
• Hemophagocytic Lymphohistiocytosis (HLH)
• Behcet's Disease
• Alagille Syndrome
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)
• Lowe Syndrome
• Pitt Hopkins Syndrome
• 1p36 deletion syndrome
• Jansen metaphyseal chondrodysplasia
• Cockayne Syndrome
• Chronic recurrent multifocal osteomyelitis (CRMO)
• Malan syndrome
• Hereditary Sensory and Autonomic Neuropathy

• Meningococcal Infections
• Osteomyelitis
• Lyme Disease
• Meningitis, Viral
• Neoplasms
• Lymphoma, Large-Cell, Anaplastic
• Leiomyosarcoma
• Papilloma
• Endocrine Gland Neoplasms
• Multiple Endocrine Neoplasia
• Multiple Endocrine Neoplasia Type 1
• Multiple Endocrine Neoplasia Type 2a
• WAGR Syndrome
• Multiple Endocrine Neoplasia Type 2b
• Denys-Drash Syndrome
• Muscle Spasticity
• Muscular Diseases
• Sjogren's Syndrome
• Arthrogryposis
• Muscle Weakness
• Mucolipidoses
• Cockayne Syndrome
• Craniofacial Abnormalities
• Osteochondrodysplasias
• Arthritis
• Silver-Russell Syndrome
• Klippel-Feil Syndrome
• Brachydactyly
• Scheuermann Disease
• Inflammatory Bowel Diseases
• Gastroparesis
• Gastroenteritis
• Esophageal Achalasia
• Digestive System Diseases
• Gastrointestinal Diseases
• Short Bowel Syndrome
• Rectal Fistula
• Liver Cirrhosis, Biliary
• Hirschsprung Disease
• Alagille Syndrome
• Eosinophilic Esophagitis
• Intestinal Pseudo-Obstruction
• Behcet Syndrome
• Hearing Loss
• Deafness
• Hearing Loss, Sensorineural
• Hyperacusis
• Dementia
• Epilepsy
• Peripheral Nervous System Diseases
• Ataxia
• Cerebellar Ataxia
• Meningitis
• Muscular Atrophy
• Polyneuropathies
• Myasthenia Gravis
• Intellectual Disability
• Craniocerebral Trauma
• Narcolepsy
• Spinocerebellar Ataxias
• Spinocerebellar Degenerations
• Multiple System Atrophy
• Shy-Drager Syndrome
• Frontotemporal Dementia
• Aphasia, Primary Progressive
• Pick Disease of the Brain
• Friedreich Ataxia
• Blindness
• Apraxias
• Leukoencephalopathies
• Disorders of Excessive Somnolence
• Ataxia Telangiectasia
• Cataplexy
• Dysarthria
• Myoclonus
• Nystagmus, Pathologic
• Amnesia
• Williams Syndrome
• Optic Atrophy
• Hypersomnolence, Idiopathic
• Machado-Joseph Disease
• Leigh Disease
• Alstrom Syndrome
• Amnesia, Transient Global
• Kleine-Levin Syndrome
• Oculocerebrorenal Syndrome
• De Lange Syndrome
• Cauda Equina Syndrome
• Hereditary Sensory and Autonomic Neuropathies
• Refsum Disease
• Cogan Syndrome
• Optic Atrophy, Autosomal Dominant
• Olivopontocerebellar Atrophies
• Meningocele
• Myasthenia Gravis, Neonatal
• Cataract
• Retinitis
• Retinitis Pigmentosa
• Leber Congenital Amaurosis
• Aniridia
• Retinal Diseases
• Eye Diseases, Hereditary
• Retinal Detachment
• Corneal Opacity
• Eye Abnormalities
• Hemolytic-Uremic Syndrome
• Atypical Hemolytic Uremic Syndrome
• Frasier Syndrome
• Cardiomyopathies
• Telangiectasis
• Cardiomyopathy, Dilated
• Mucocutaneous Lymph Node Syndrome
• Lymphohistiocytosis, Hemophagocytic
• Congenital Abnormalities
• Glycogen Storage Disease
• Hypophosphatasia
• Ectodermal Dysplasia
• Beckwith-Wiedemann Syndrome
• Wolf-Hirschhorn Syndrome
• Abnormalities, Multiple
• Connective Tissue Diseases
• Vitamin B 12 Deficiency
• Vitamin E Deficiency
• Hypogonadism
• Addison Disease
• Disease
• Syndrome
• Atrophy
• Fistula
• Rare Diseases
• Hemolysis
• Nerve Degeneration
• Channelopathies
• Uniparental Disomy

Observational Model: Case-Only

Time Perspective: Prospective